Disorders 

1 2 3 4 5 6 9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

1 

10p13-p14 Deletion SyndromeTests Available
11-beta-Hydroxylase-Deficient Congenital Adrenal HyperplasiaTests Available
11p15-p14 Deletion SyndromeTests Available
15q13.3 MicrodeletionTests Available
15q24 Microdeletion SyndromeTests Available
16p11.2 MicrodeletionTests Available
16p13.3 Deletion SyndromeTests Available
17-alpha-Hydroxylase-Deficient Congenital Adrenal HyperplasiaTests Available
17-Beta Hydroxysteroid Dehydrogenase III DeficiencyTests Available
17-Beta-Hydroxysteroid Dehydrogenase X DeficiencyTests Available
17-Linked Subcortical Band HeterotopiaTests Available
17q21.31 Microdeletion SyndromeTests Available
1p36 Deletion SyndromeTests Available
1q21.1 DeletionTests Available
 

2 

2,4-Dienoyl-CoA Reductase DeficiencyTests Available
21-Hydroxylase-Deficient Congenital Adrenal HyperplasiaTests Available
22q11.2 Deletion SyndromeTests Available
22q11.2 Distal Deletion SyndromeTests Available
22q11.2 DuplicationTests Available
2p16.1-p15 Deletion SyndromeTests Available
2q37 Microdeletion SyndromeTests Available
 

3 

3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal HyperplasiaTests Available
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 DeficiencyTests Available
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase DeficiencyTests Available
3-Hydroxyacyl-Coenzyme A Dehydrogenase DeficiencyTests Available
3-Hydroxyisobutryl-CoA Hydrolase DeficiencyTests Available
3-M SyndromeTests Available
3-M Syndrome, CCDC8-RelatedTests Available
3-M Syndrome, CUL7-RelatedTests Available
3-M Syndrome, OBSL1-RelatedTests Available
3-Methylcrotonyl-CoA Carboxylase DeficiencyTests Available
3-Methylglutaconic Aciduria Type 1Tests Available
3-Methylglutaconic Aciduria Type 2Tests Available
3-Methylglutaconic Aciduria Type 3Tests Available
3-Methylglutaconic Aciduria Type 5Tests Available
3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and NeutropeniaTests Available
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like SyndromeTests Available
3MC Syndrome 1Tests Available
3MC Syndrome 2Tests Available
3MC Syndrome 3Tests Available
3q29 Deletion SyndromeTests Available
 

4 

46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals and LungsTests Available
46,XX Testicular Disorder of Sex DevelopmentTests Available
46,XY Disorder of Sex Development and 46,XY Complete Gonadal DysgenesisTests Available
 

5 

5-Oxoprolinase DeficiencyTests Available
5q22 Deletion SyndromeTests Available
 

6 

6-Pyruvoyltetrahydropterin Synthase DeficiencyTests Available
 

9 

9q22.3 MicrodeletionTests Available
 

A 

Aarskog SyndromeTests Available
ABCA1-Associated Familial High Density Lipoprotein DeficiencyTests Available
ABCA1-Related DisordersTests Available
ABCA1-Related Familial High Density Lipoprotein Deficiency
ABCA12-Related Autosomal Recessive Congenital IchthyosisTests Available
ABCA12-Related Autosomal Recessive Congenital IchthyosisTests Available
ABCA3-Related Pulmonary Surfactant Metabolism DysfunctionTests Available
ABCA4-Related Retinitis PigmentosaTests Available
ABCA4-Related Stargardt Disease 1Tests Available
ABCB1-Related Altered Drug MetabolismTests Available
ABCB11-Related Intrahepatic CholestasisTests Available
ABCB11-Related Intrahepatic CholestasisTests Available
ABCC2-Related Altered Drug MetabolismTests Available
ABCC4-Related Altered Drug MetabolismTests Available
ABCC8-Related HyperinsulinismTests Available
ABCC8-Related Permanent Neonatal Diabetes MellitusTests Available
ABCC8-Related Transient Neonatal Diabetes Mellitus 2Tests Available
ABCC9-Related Dilated CardiomyopathyTests Available
ABCC9-Related Familial Atrial FibrillationTests Available
Abducens Palsy
AbetalipoproteinemiaTests Available
ABL1 KD-Related Altered Drug MetabolismTests Available
Ablepharon-Macrostomia SyndromeTests Available
Absence of Abdominal Muscles with Urinary Tract Abnormality and CryptorchidismTests Available
Absence of Ulna and Fibula with Severe Limb DeficiencyTests Available
Acampomelic Campomelic DysplasiaTests Available
AcatalasemiaTests Available
ACD-Related Dyskeratosis CongenitaTests Available
AceruloplasminemiaTests Available
Acetyl-CoA Carboxylase DeficiencyTests Available
Acetyl-CoA Carboxylase-Beta DeficiencyTests Available
Achalasia-Addisonianism-Alacrima SyndromeTests Available
Achondrogenesis Type 1BTests Available
Achondrogenesis Type 2Tests Available
Achondrogenesis Type IATests Available
AchondroplasiaTests Available
AchromatopsiaTests Available
Achromatopsia 2Tests Available
Achromatopsia 3Tests Available
Achromatopsia 4Tests Available
Achromatopsia 5Tests Available
Achromatopsia 6Tests Available
Achromatopsia 7Tests Available
Acid Sphingomyelinase DeficiencyTests Available
Acid-Labile Subunit DeficiencyTests Available
Acne Inversa, Familial, 3Tests Available
Acquired Partial Lipodystrophy, Susceptibility toTests Available
Acro-Renal-Ocular Syndrome
Acrocallosal SyndromeTests Available
Acrodermatitis Enteropathica, Zinc-Deficiency TypeTests Available
Acrodysostosis 1, with or without Hormone ResistanceTests Available
Acrodysostosis 2, with or without Hormone ResistanceTests Available
Acromelic Frontonasal DysostosisTests Available
Acromesomelic Dysplasia, Demirhan TypeTests Available
Acromesomelic Dysplasia, Hunter-Thompson TypeTests Available
Acromesomelic Dysplasia, Maroteaux TypeTests Available
Acromicric DysplasiaTests Available
ACTA1-Related Congenital Fiber-Type DisproportionTests Available
ACTA1-Related Nemaline MyopathyTests Available
ACTA2-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
ACTC1-Related Dilated CardiomyopathyTests Available
ACTC1-Related Familial Hypertrophic CardiomyopathyTests Available
ACTH DeficiencyTests Available
ACTH-Independent Macronodular Adrenal Hyperplasia 2Tests Available
ACTN2-Related Dilated CardiomyopathyTests Available
ACTN2-Related Familial Hypertrophic CardiomyopathyTests Available
Acute Hepatic PorphyriaTests Available
Acute Intermittent PorphyriaTests Available
Acute Lymphoblastic Leukemia, SomaticTests Available
Acute Lymphoblastic Leukemia, susceptibility to 3Tests Available
Acute Myeloid LeukemiaTests Available
Acute Myeloid Leukemia, FLT3-RelatedTests Available
Acute Myeloid Leukemia, KIT-RelatedTests Available
Acute Myeloid Leukemia, Somatic DNMT3A-RelatedTests Available
Acute Myeloid Leukemia, Susceptibility, GATA2-RelatedTests Available
Acute pre-B-cell Lymphoblastic LeukemiaTests Available
Acute Promyelocytic LeukemiaTests Available
Acute Promyelocytic Leukemia NUMA/RARA TypeTests Available
Acute Promyelocytic Leukemia PML/RARA TypeTests Available
ACVR2B-Related Visceral HeterotaxyTests Available
ACVRL1-Related Hereditary Hemorrhagic TelangiectasiaTests Available
Acyl-CoA Dehydrogenase 9 DeficiencyTests Available
Acyl-CoA Dehydrogenase, Short/Branched Chain DeficiencyTests Available
Adams-Oliver SyndromeTests Available
Adams-Oliver Syndrome 1Tests Available
Adams-Oliver Syndrome 2Tests Available
Adams-Oliver Syndrome 3Tests Available
Adams-Oliver Syndrome 4Tests Available
Adams-Oliver Syndrome 5Tests Available
Adams-Oliver Syndrome 6Tests Available
ADAMTS10-Related Weill-Marchesani SyndromeTests Available
ADAMTSL4-Related Eye DisordersTests Available
ADAR-Related Aicardi-Goutieres SyndromeTests Available
ADAR-Related Aicardi-Goutieres SyndromeTests Available
Adenine Phosphoribosyltransferase DeficiencyTests Available
Adenocarcinoma of Lung, SomaticTests Available
Adenosine Deaminase DeficiencyTests Available
Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (SCID)Tests Available
Adenylosuccinase DeficiencyTests Available
ADH1C-Related Parkinson Disease SusceptibilityTests Available
ADRA2A-Related Altered Drug MetabolismTests Available
Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or CompleteTests Available
Adrenoleukodystrophy, X-LinkedTests Available
AdrenomyeloneuropathyTests Available
Adult i Blood Group with or without Congenital CataractTests Available
Adult Polyglucosan Body DiseaseTests Available
ADULT SyndromeTests Available
Agammaglobulinemia 1, Autosomal RecessiveTests Available
Agammaglobulinemia 2, Autosomal RecessiveTests Available
Agammaglobulinemia 3, Autosomal RecessiveTests Available
Agammaglobulinemia 4, Autosomal RecessiveTests Available
Agammaglobulinemia 5, Autosomal DominantTests Available
Agammaglobulinemia 6, Autosomal RecessiveTests Available
Agammaglobulinemia 7, Autosomal RecessiveTests Available
Agammaglobulinemia 8, Autosomal Dominant
AGBL5-Related Retinitis Pigmentosa
Age-Related Macular DegenerationTests Available
Age-Related Macular Degeneration 1Tests Available
Age-Related Macular Degeneration 2Tests Available
Age-Related Macular Degeneration 3Tests Available
Age-Related Macular Degeneration 4Tests Available
Age-Related Macular Degeneration 5Tests Available
Age-Related Macular Degeneration 6Tests Available
Age-Related Macular Degeneration 7Tests Available
Age-Related Macular Degeneration 8Tests Available
Age-Related Macular Degeneration 9Tests Available
Agenesis of Corpus Callosum with Abnormal GenitaliaTests Available
Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and MicrognathiaTests Available
Agnathia-Otocephaly ComplexTests Available
AGRN-Related Congenital Myasthenic SyndromeTests Available
AHI1-Related Joubert SyndromeTests Available
Aicardi SyndromeTests Available
Aicardi-Goutieres SyndromeTests Available
Aicardi-Goutieres Syndrome 1Tests Available
Aicardi-Goutieres Syndrome 2Tests Available
Aicardi-Goutieres Syndrome 3Tests Available
Aicardi-Goutieres Syndrome 4Tests Available
Aicardi-Goutieres Syndrome 5Tests Available
Aicardi-Goutieres Syndrome 6Tests Available
Aicardi-Goutieres Syndrome 7Tests Available
AIP-Related Familial Isolated Pituitary AdenomasTests Available
AIPL1-Related Leber Congenital AmaurosisTests Available
AIPL1-Related Retinitis PigmentosaTests Available
Alacrima, Achalasia, and Mental Retardation SyndromeTests Available
Alagille SyndromeTests Available
Aland Island Eye DiseaseTests Available
Alazami SyndromeTests Available
AlbinismTests Available
ALDH18A1-Related Cutis LaxaTests Available
Aldolase A DeficiencyTests Available
Alexander DiseaseTests Available
ALG1-CDG (CDG-Ik)Tests Available
ALG11-CDG (CDG-Ip)Tests Available
ALG12-CDG (CDG-Ig)Tests Available
ALG13-CDGTests Available
ALG14-Related Congenital Myasthenic Syndrome without Tubular AggregatesTests Available
ALG2-CDG (CDG-Ii)Tests Available
ALG3-CDG (CDG-Id)Tests Available
ALG6-CDG (CDG-Ic)Tests Available
ALG8-CDG (CDG-Ih)Tests Available
ALG9-CDG (CDG-IL)Tests Available
ALK-Related Neuroblastoma SusceptibilityTests Available
AlkaptonuriaTests Available
Alopecia and T-Cell ImmunodeficiencyTests Available
Alopecia Areata
Alopecia UniversalisTests Available
Alopecia, Neurologic Defects, and Endocrinopathy SyndromeTests Available
ALOX12B-Related Autosomal Recessive Congenital IchthyosisTests Available
ALOXE3-Related Autosomal Recessive Congenital IchthyosisTests Available
Alpers-Huttenlocher SyndromeTests Available
Alpha-2-Macroglobulin DeficiencyTests Available
Alpha-2-Plasmin Inhibitor DeficiencyTests Available
Alpha-B CrystallinopathyTests Available
Alpha-Ketoglutarate Dehydrogenase DeficiencyTests Available
Alpha-MannosidosisTests Available
Alpha-Methylacyl-CoA Racemase DeficiencyTests Available
Alpha-SarcoglycanopathyTests Available
Alpha-ThalassemiaTests Available
Alpha-Thalassemia X-Linked Intellectual Disability SyndromeTests Available
Alpha1-Antitrypsin DeficiencyTests Available
Alport Syndrome and Thin Basement Membrane NephropathyTests Available
ALS2-Related DisordersTests Available
ALS2-Related DisordersTests Available
ALS5-Related Amyotrophic Lateral Sclerosis
Alstrom SyndromeTests Available
Alternating Hemiplegia of ChildhoodTests Available
Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsTests Available
Alzheimer DiseaseTests Available
Alzheimer Disease Risk Factor (APOE Genotype)Tests Available
Alzheimer Disease Type 1Tests Available
Alzheimer Disease Type 2Tests Available
Alzheimer Disease Type 3Tests Available
Alzheimer Disease Type 4Tests Available
Alzheimer Disease Type 5
Alzheimer Disease, Susceptibility toTests Available
Amegakaryocytic Thrombocytopenia, CongenitalTests Available
Amelogenesis Imperfecta and Gingival Fibromatosis SyndromeTests Available
Amelogenesis Imperfecta, Hypomaturation Type, IIA1Tests Available
Amelogenesis Imperfecta, Hypomaturation Type, IIA2Tests Available
Amelogenesis Imperfecta, Hypomaturation Type, IIA3Tests Available
Amelogenesis Imperfecta, Hypomaturation Type, IIA4Tests Available
Amelogenesis Imperfecta, Type 1ETests Available
Amelogenesis Imperfecta, Type IATests Available
Amelogenesis Imperfecta, Type IBTests Available
Amelogenesis Imperfecta, Type ICTests Available
Amelogenesis Imperfecta, Type IIA5Tests Available
Amelogenesis Imperfecta, Type IIITests Available
Amelogenesis Imperfecta, Type IVTests Available
Amino Adipic AciduriaTests Available
Aminoacylase 1 DeficiencyTests Available
Amish Infantile Epilepsy SyndromeTests Available
Amish Lethal MicrocephalyTests Available
AMT-Related Glycine EncephalopathyTests Available
AmyloidosisTests Available
Amyloidosis VTests Available
Amyloidosis, Primary Localized Cutaneous 1Tests Available
Amyloidosis, Primary Localized Cutaneous 2Tests Available
Amyotrophic Lateral SclerosisTests Available
Anauxetic DysplasiaTests Available
Andersen Syndrome Type 1Tests Available
Andersen Syndrome Type 2
Andersen-Tawil SyndromeTests Available
Androgen Insensitivity SyndromeTests Available
ANG-Related Amyotrophic Lateral SclerosisTests Available
Angelman SyndromeTests Available
Angiokeratoma Corporis Diffusum with Arteriovenous FistulasTests Available
AnhaptoglobinemiaTests Available
AniridiaTests Available
Aniridia, Cerebellar Ataxia, And Mental RetardationTests Available
ANK1-Related SpherocytosisTests Available
ANKRD1-Related Dilated CardiomyopathyTests Available
Ankyloblepharon-Ectodermal Defects-Cleft Lip/PalateTests Available
ANO5-Related Muscle DiseasesTests Available
ANO5-Related Muscle DiseasesTests Available
Anonychia CongenitaTests Available
Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome
Anophthalmia/MicrophthalmiaTests Available
ANOS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Anterior Segment Mesenchymal DysgenesisTests Available
Antithrombin-III DeficiencyTests Available
Antley-Bixler SyndromeTests Available
Antley-Bixler Syndrome without Genital Anomalies or Disordered SteroidogenesisTests Available
Aortic Valve Disease 1Tests Available
Aortic Valve Disease 2Tests Available
APC-Associated Polyposis ConditionsTests Available
Apert SyndromeTests Available
Aplasia Cutis Congenita
Aplasia of Lacrimal and Salivary Glands
Aplastic Anemia Susceptibility, SBDS-RelatedTests Available
Aplastic Anemia, IFNG-RelatedTests Available
Aplastic Anemia, PRF1-RelatedTests Available
Aplastic Anemia, TERC-RelatedTests Available
Aplastic Anemia, TERT-RelatedTests Available
APOA1-Associated Familial High Density Lipoprotein DeficiencyTests Available
APOA1-Related Familial Visceral AmyloidosisTests Available
APOB-Related Familial Hypercholesterolemia, Autosomal DominantTests Available
Apolipoprotein A-II DeficiencyTests Available
Apolipoprotein C-II DeficiencyTests Available
Apolipoprotein C-III DeficiencyTests Available
Apparent Mineralocorticoid Excess SyndromeTests Available
APTX-Related Coenzyme Q10 DeficiencyTests Available
Arginase DeficiencyTests Available
Argininosuccinate Lyase DeficiencyTests Available
Argininosuccinate Lyase DeficiencyTests Available
Argininosuccinic AciduriaTests Available
ARHGEF9-Related HyperekplexiaTests Available
ARID1A-Related Coffin-Siris SyndromeTests Available
ARID1B-Related Coffin-Siris SyndromeTests Available
ARL13B-Related Joubert SyndromeTests Available
ARL2BP-Related Retinitis PigmentosaTests Available
ARL6-Related Bardet-Biedl SyndromeTests Available
ARL6-Related Retinitis PigmentosaTests Available
Aromatase DeficiencyTests Available
Aromatic L-Amino Acid Decarboxylase DeficiencyTests Available
Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyTests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 3Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 6Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 7Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12Tests Available
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy13Tests Available
ARSACSTests Available
Arterial Calcification, Generalized, of Infancy, 1Tests Available
Arterial Calcification, Generalized, of Infancy, 2Tests Available
Arterial Tortuosity SyndromeTests Available
Arteriovenous Malformations
Arthrogryposis Multiple Congenita, Ophthalmoplegia, PtosisTests Available
Arthrogryposis Multiplex Congenita, Distal, Type 1Tests Available
Arthrogryposis Multiplex Congenita, Distal, Type 2BTests Available
Arthrogryposis, Distal, Type 1BTests Available
Arthrogryposis, Distal, Type 2ATests Available
Arthrogryposis, Distal, Type 3Tests Available
Arthrogryposis, Distal, Type 5DTests Available
Arthrogryposis, Mental Retardation and SeizuresTests Available
Arthrogryposis, Renal Dysfunction, and Cholestasis SyndromeTests Available
Arts SyndromeTests Available
ARX-Related DisordersTests Available
Arylsulfatase A DeficiencyTests Available
Ashkenazi Jewish Carrier DisordersTests Available
Asparagine Synthetase DeficiencyTests Available
AspartylglycosaminuriaTests Available
Asperger DisorderTests Available
Asphyxiating Thoracic DystrophyTests Available
Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 2Tests Available
Asphyxiating Thoracic Dystrophy 3Tests Available
Asphyxiating Thoracic Dystrophy 4Tests Available
Asphyxiating Thoracic Dystrophy 5Tests Available
Asthma Susceptibility, ADRB2-RelatedTests Available
Asthma Susceptibility, CCL11-RelatedTests Available
Asthma Susceptibility, HLA-G-RelatedTests Available
Asthma Susceptibility, HNMT RelatedTests Available
Asthma Susceptibility, IL13-RelatedTests Available
Asthma Susceptibility, MUC7-RelatedTests Available
Asthma Susceptibility, PLA2G7-RelatedTests Available
Asthma Susceptibility, SCGB3A2-RelatedTests Available
Asthma Susceptibility, TNF-RelatedTests Available
Asthma, PHF11-RelatedTests Available
Ataxia with Oculomotor Apraxia 1Tests Available
Ataxia with Vitamin E DeficiencyTests Available
Ataxia-Oculomotor Apraxia 3Tests Available
Ataxia-TelangiectasiaTests Available
Ataxia-Telangiectasia-Like DisorderTests Available
Atelosteogenesis Type ITests Available
Atelosteogenesis Type IITests Available
Atelosteogenesis Type IIITests Available
Athabaskan Brain Stem Dysgenesis SyndromeTests Available
Athyroidal Hypothyroidism with Spiky Hair and Cleft PalateTests Available
ATP1A2-Related Alternating Hemiplegia of ChildhoodTests Available
ATP1A3-Related Alternating Hemiplegia of ChildhoodTests Available
ATP6V0A2-Related Cutis LaxaTests Available
ATP7A-Related Copper Transport DisordersTests Available
ATP7A-Related Distal Motor NeuropathyTests Available
ATP8B1-Related Intrahepatic CholestasisTests Available
ATP8B1-Related Intrahepatic CholestasisTests Available
AtransferrinemiaTests Available
Atrial Septal Defect 2Tests Available
Atrial Septal Defect 3Tests Available
Atrial Septal Defect 5Tests Available
Atrial Septal Defect 7, with or without AV Conduction DefectsTests Available
Atrial Septal Defect 8Tests Available
Atrial Septal Defect 9Tests Available
Atrichia with Papular LesionsTests Available
Atrioventricular Septal DefectTests Available
Atrioventricular Septal Defect 3Tests Available
Atrioventricular Septal Defect 5Tests Available
Atrioventricular Septal Defect, Partial, with Heterotaxy SyndromeTests Available
Attention Deficit-Hyperactivity Disorder Susceptibility, ADHD4-RelatedTests Available
Attention Deficit-Hyperactivity Disorder Susceptibility, DRD4-RelatedTests Available
Attention Deficit-Hyperactivity Disorder Susceptibility, DRD5-RelatedTests Available
Attenuated FAPTests Available
ATXN2-Related Parkinson Disease SusceptibilityTests Available
Atypical and Late Onset Variants of Fabry Disease
Atypical Hemolytic-Uremic SyndromeTests Available
Atypical Neuroaxonal Dystrophy
Atypical Werner SyndromeTests Available
Auditory Neuropathy, Autosomal Dominant, 1Tests Available
Auriculocondylar Syndrome 2Tests Available
Autism Spectrum Disorder Susceptibility, KMT5B-RelatedTests Available
Autism Spectrum DisordersTests Available
Autism Susceptibility, X-Linked 4Tests Available
Autistic DisorderTests Available
Autoimmune Interstitial Lung, Joint, and Kidney DiseaseTests Available
Autoimmune Lymphoproliferative SyndromeTests Available
Autoimmune Lymphoproliferative Syndrome Type IVTests Available
Autoimmune Lymphoproliferative Syndrome, Type 0
Autoimmune Lymphoproliferative Syndrome, Type IaTests Available
Autoimmune Lymphoproliferative Syndrome, Type IbTests Available
Autoimmune Lymphoproliferative Syndrome, Type IITests Available
Autoimmune Lymphoproliferative Syndrome, Type VTests Available
Autoimmune Polyendocrinopathy Syndrome Type 1Tests Available
Autoinflammation with Infantile EnterocolitisTests Available
Autoinflammation, Lipodystrophy, and Dermatosis SyndromeTests Available
Autosomal Dominant Familial Periodic FeverTests Available
Autosomal Dominant Hyper IgE SyndromeTests Available
Autosomal Dominant HypocalcemiaTests Available
Autosomal Dominant Hypocalcemia 2Tests Available
Autosomal Dominant Osteopetrosis Type IITests Available
Autosomal Dominant Progressive External OphthalmoplegiaTests Available
Autosomal Dominant Type 1 PorencephalyTests Available
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord ParesisTests Available
Autosomal Recessive Congenital IchthyosisTests Available
Autosomal Recessive Hyper IgE SyndromeTests Available
Autosomal Recessive Infantile ParkinsonismTests Available
Autosomal Recessive Isolated Ectopia LentisTests Available
Autosomal Recessive Juvenile Amyotrophic Lateral SclerosisTests Available
Autosomal Recessive Myosclerosis Myopathy
Autosomal Recessive Progressive External OphthalmoplegiaTests Available
Autosomal Recessive Sensory Neuropathy with Spastic ParaplegiaTests Available
Avascular Necrosis of Femoral Head, PrimaryTests Available
Avellino Corneal DystrophyTests Available
Axenfeld-Rieger SyndromeTests Available
Axenfeld-Rieger Syndrome, Type 1Tests Available
Axenfeld-Rieger Syndrome, Type 2
Axenfeld-Rieger Syndrome, Type 3Tests Available
Ayme-Gripp SyndromeTests Available
 

B 

B-cell Expansion with NFKB and T-cell AnergyTests Available
B-Cell Lymphoma of Mucosa-Associated Lymphoid TissueTests Available
B4GALT1-CDG (CDG-IId)Tests Available
B9D1-Related Meckel SyndromeTests Available
B9D2-Related Meckel SyndromeTests Available
BAAT-Related Familial HypercholanemiaTests Available
BAG3-Related Dilated CardiomyopathyTests Available
BAG3-Related Myofibrillar MyopathyTests Available
Bainbridge-Ropers SyndromeTests Available
Baller-Gerold SyndromeTests Available
Band-Like Calcification with Simplified Gyration and PolymicrogyriaTests Available
Bannayan-Riley-Ruvalcaba SyndromeTests Available
Baraitser-Winter Syndrome 1Tests Available
Baraitser-Winter Syndrome 2Tests Available
Barber-Say SyndromeTests Available
BARD1-Related Susceptibility to Breast CancerTests Available
Bardet-Biedl SyndromeTests Available
Bare Lymphocyte Syndrome, Type II, Complementation Group ATests Available
Bare Lymphocyte Syndrome, Type II, Complementation Group DTests Available
Bare Lymphocyte Syndrome, Type II, Complementation Group ETests Available
Barrett EsophagusTests Available
Bartter Syndrome Type 1Tests Available
Bartter Syndrome Type 2Tests Available
Bartter Syndrome Type 3Tests Available
Bartter Syndrome Type 4ATests Available
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic Tests Available
Bartter Syndrome Type 5Tests Available
Basal Ganglia Calcification, Idiopathic 6Tests Available
Basal Laminar DrusenTests Available
BBIP1-Related Bardet-Biedl SyndromeTests Available
BBS1-Related Bardet-Biedl SyndromeTests Available
BBS10-Related Bardet-Biedl SyndromeTests Available
BBS12-Related Bardet-Biedl SyndromeTests Available
BBS2-Related Bardet-Biedl SyndromeTests Available
BBS2-Related Retinitis PigmentosaTests Available
BBS4-Related Bardet-Biedl SyndromeTests Available
BBS5-Related Bardet-Biedl SyndromeTests Available
BBS7-Related Bardet-Biedl SyndromeTests Available
BBS9-Related Bardet-Biedl SyndromeTests Available
BCOR-Related Lenz Microphthalmia SyndromeTests Available
Beare-Stevenson SyndromeTests Available
Becker Muscular DystrophyTests Available
Beckwith-Wiedemann SyndromeTests Available
Benign Chronic PemphigusTests Available
Benign Familial Infantile Seizures 2Tests Available
Benign Familial Infantile Seizures 3Tests Available
Benign Hereditary ChoreaTests Available
Benign Recurrent Intrahepatic Cholestasis, Type 1Tests Available
Benign Recurrent Intrahepatic Cholestasis, Type 2Tests Available
Bent Bone Dysplasia SyndromeTests Available
Berardinelli-Seip Congenital LipodystrophyTests Available
Berardinelli-Seip Congenital Lipodystrophy Type 1Tests Available
Berardinelli-Seip Congenital Lipodystrophy Type 2Tests Available
Bernard-Soulier Syndrome Type ATests Available
Bernard-Soulier Syndrome Type BTests Available
Bernard-Soulier Syndrome Type CTests Available
Best Vitelliform Macular DystrophyTests Available
BEST1-Related Retinitis PigmentosaTests Available
Bestrophinopathy, Autosomal RecessiveTests Available
Beta-MannosidosisTests Available
Beta-Propeller Protein-Associated NeurodegenerationTests Available
Beta-SarcoglycanopathyTests Available
Beta-ThalassemiaTests Available
Beta-Ureidopropionase DeficiencyTests Available
Bethlem MyopathyTests Available
Bethlem Myopathy 2Tests Available
BH4-Deficient Hyperphenylalaninemia CTests Available
BH4-Deficient Hyperphenylalaninemia DTests Available
Bietti Crystalline DystrophyTests Available
Bifid Nose with or without Anorectal and Renal AnomaliesTests Available
Bile Acid Synthesis Defect, Congenital, 1Tests Available
Bile Acid Synthesis Defect, Congenital, 2Tests Available
Bile Acid Synthesis Defect, Congenital, 3Tests Available
Bile Acid Synthesis Defect, Congenital, 5Tests Available
Biotin-Responsive Basal Ganglia DiseaseTests Available
Biotin-Responsive Multiple Carboxylase DeficienciesTests Available
Biotinidase DeficiencyTests Available
Bipolar Disorder
Birk-Barel Mental Retardation Dysmorphism SyndromeTests Available
Birt-Hogg-Dube SyndromeTests Available
Bjornstad SyndromeTests Available
Bladder Cancer, SomaticTests Available
Blau SyndromeTests Available
Bleeding Disorder due to P2RX1 Defect, SomaticTests Available
Bleeding Disorder, Platelet Type 11Tests Available
Bleeding Disorder, Platelet Type 13, Susceptibility toTests Available
Bleeding Disorder, Platelet Type 14Tests Available
Bleeding Disorder, Platelet Type 15Tests Available
Bleeding Disorder, Platelet Type 17Tests Available
Bleeding Disorder, Platelet Type 18Tests Available
Bleeding Disorder, Platelet Type 19Tests Available
Bleeding Disorder, Platelet Type 8Tests Available
Blepharophimosis, Ptosis, and Epicanthus InversusTests Available
Blood Group--Lutheran InhibitorTests Available
Bloom SyndromeTests Available
Blue Rubber Bleb Nevus Syndrome
Blue-Mono-Cone-Monochromatic Type ColorblindnessTests Available
BMP1-Related Osteogenesis ImperfectaTests Available
BMP1-Related Osteogenesis ImperfectaTests Available
BMPR1A-Related Juvenile PolyposisTests Available
Bohring-Opitz SyndromeTests Available
Bone Fragility with Contractures, Arterial Rupture, and DeafnessTests Available
Bone Marrow Failure, FamilialTests Available
Bone Mineral Density QTL18, OsteoporosisTests Available
Boomerang DysplasiaTests Available
Borjeson-Forssman-Lehmann SyndromeTests Available
Bosch-Boonstra-Schaaf Optic Atrophy SyndromeTests Available
Bosley-Salih-Alorainy SyndromeTests Available
BPES ITests Available
BPES IITests Available
Brachydactyly Type A1Tests Available
Brachydactyly Type A1, BTests Available
Brachydactyly Type A2Tests Available
Brachydactyly Type CTests Available
Brachydactyly Type DTests Available
Brachydactyly Type ETests Available
Brachydactyly, Type B1Tests Available
Brachydactyly, Type B2Tests Available
Brachydactyly, Type E2Tests Available
Brachydactyly-Mental Retardation SyndromeTests Available
Brachyolmia 4Tests Available
Brachyolmia Type 2Tests Available
Brachyolmia Type 3Tests Available
BradyopsiaTests Available
BRAF-Related Cardiofaciocutaneous SyndromeTests Available
BRAF-Related LEOPARD SyndromeTests Available
BRAF-Related Noonan SyndromeTests Available
Brain Small Vessel Disease with HemorrhageTests Available
Branched-chain Ketoacid Dehydrogenase Kinase DeficiencyTests Available
Branchiooculofacial SyndromeTests Available
Branchiootorenal Spectrum DisordersTests Available
BRCA1 and BRCA2 Hereditary Breast and Ovarian CancerTests Available
BRCA1 Hereditary Breast and Ovarian CancerTests Available
BRCA2 Hereditary Breast and Ovarian CancerTests Available
BRCA2-Related Fanconi AnemiaTests Available
Breast Cancer Susceptibility, XRCC3-RelatedTests Available
Breast Cancer, LobularTests Available
Breast Cancer, SomaticTests Available
Breast/Ovarian Cancer, HereditaryTests Available
Breasts and/or Nipples, Aplasia or Hypoplasia 2Tests Available
BRIP1-Related Breast CancerTests Available
BRIP1-Related Fanconi AnemiaTests Available
Brittle Cornea Syndrome 1Tests Available
Brittle Cornea Syndrome 2Tests Available
Brody MyopathyTests Available
Bronchiectasis with or without Elevated Sweat Chloride 1Tests Available
Bronchiectasis with or without Elevated Sweat Chloride 2Tests Available
Bronchiectasis with or without Elevated Sweat Chloride 3Tests Available
Brooke-Spiegler SyndromeTests Available
Brown OCA
Brown-Vialetto-Van Laere SyndromeTests Available
Brown-Vialetto-Van Laere Syndrome 2Tests Available
Bruck Syndrome 1Tests Available
Bruck Syndrome 2Tests Available
Brugada SyndromeTests Available
Brugada Syndrome 1Tests Available
Brugada Syndrome 2Tests Available
Brugada Syndrome 3Tests Available
Brugada Syndrome 4Tests Available
Brugada Syndrome 5Tests Available
Brugada Syndrome 6Tests Available
Brugada Syndrome 7Tests Available
Brugada Syndrome 8Tests Available
Brugada Syndrome 9Tests Available
Brugada Syndrome, RANGRF-RelatedTests Available
Brunner SyndromeTests Available
BSCL2-Related Neurologic Disorders/SeipinopathyTests Available
Burkitt LymphomaTests Available
Buschke-Ollendorff SyndromeTests Available
Butyrylcholinesterase DeficiencyTests Available
 

C 

C SyndromeTests Available
C1q DeficiencyTests Available
C2orf71-Related Retinitis PigmentosaTests Available
C2orf86-Related Bardet-Biedl SyndromeTests Available
C3 Deficiency, Autosomal RecessiveTests Available
C3-Related Atypical Hemolytic-Uremic SyndromeTests Available
C5 DeficiencyTests Available
C5orf42-Related Joubert SyndromeTests Available
C7 DeficiencyTests Available
C8orf37-Related Retinitis PigmentosaTests Available
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal DementiaTests Available
CA4-Related Retinitis PigmentosaTests Available
CACNA1F-Related X-Linked Congenital Stationary Night BlindnessTests Available
CACNA1S-Related Malignant Hyperthermia SusceptibilityTests Available
CACNB4-Related Juvenile Myoclonic EpilepsyTests Available
CADASILTests Available
Cafe-au-lait Spots, Multiple
Caffey DiseaseTests Available
CAKUT with or without VACTERLTests Available
CALM1-Related Catecholaminergic Polymorphic Ventricular TachycardiaTests Available
CalpainopathyTests Available
CALR-Related Essential ThrombocythemiaTests Available
CALR3-Related Familial Hypertrophic CardiomyopathyTests Available
Campomelic DysplasiaTests Available
Camptodactyly, Tall Stature, and Hearing Loss SyndromeTests Available
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeTests Available
Camurati-Engelmann DiseaseTests Available
Canavan DiseaseTests Available
Candidiasis, Familial 4Tests Available
Candidiasis, Familial 8Tests Available
Capillary Hemangioma, infantile, susceptibility toTests Available
Capillary Malformation-Arteriovenous Malformation SyndromeTests Available
CAPOS SyndromeTests Available
CARASILTests Available
Carbamoylphosphate Synthetase I DeficiencyTests Available
Carcinoid Tumors, IntestinalTests Available
Cardiac Conduction Disease with or without Dilated CardiomyopathyTests Available
Cardiofaciocutaneous SyndromeTests Available
CardiomyopathyTests Available
Cardiomyopathy with or without Skeletal MyopathyTests Available
Cardiomyopathy, Dilated, with Woolly Hair and KeratodermaTests Available
Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE))Tests Available
Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1)Tests Available
Cardiovascular Disease Risk Factor (Angiotensinogen)Tests Available
Cardiovascular Disease Risk Factor (Apolipoprotein E)Tests Available
Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1)Tests Available
Carney ComplexTests Available
Carney Complex VariantTests Available
Carnitine Palmitoyltransferase IA DeficiencyTests Available
Carnitine Palmitoyltransferase II DeficiencyTests Available
Carnitine-Acylcarnitine Translocase DeficiencyTests Available
CarnosinemiaTests Available
Carpenter Syndrome 1Tests Available
Carpenter Syndrome 2Tests Available
Cartilage-Hair HypoplasiaTests Available
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum DisordersTests Available
CASK-Related DisordersTests Available
CASP10-Related Autoimmune Lymphoproliferative SyndromeTests Available
CASP10-Related Autoimmune Lymphoproliferative SyndromeTests Available
Caspase 8 DeficiencyTests Available
CASQ2-Related Catecholaminergic Polymorphic Ventricular TachycardiaTests Available
CASR-Associated Familial Isolated HypoparathyroidismTests Available
CASR-Related DisordersTests Available
CASR-Related Familial Isolated HypoparathyroidismTests Available
Cat Eye SyndromeTests Available
Cataract 10, Multiple TypesTests Available
Cataract 12, Multiple TypesTests Available
Cataract 13 with Adult i PhenotypeTests Available
Cataract 19Tests Available
Cataract 2, Multiple TypesTests Available
Cataract 20, Multiple TypesTests Available
Cataract 21, Multiple TypesTests Available
Cataract 23Tests Available
Cataract 3, Multiple TypesTests Available
Cataract 30Tests Available
Cataract 31, Multiple TypesTests Available
Cataract 33Tests Available
Cataract 39, Multiple TypesTests Available
Cataract 41Tests Available
Cataract 47Tests Available
Cataract, Age-Related Cortical, 2Tests Available
Cataract, Autosomal Dominant Congenital 4Tests Available
Cataract, Autosomal Recessive Congenital 1Tests Available
Cataract, Autosomal Recessive Congenital 2Tests Available
Cataract, Autosomal Recessive Congenital 4Tests Available
Cataract, Autosomal Recessive Congenital 5Tests Available
Cataract, Congenital Nuclear, Autosomal Recessive 2Tests Available
Cataract, Congenital Nuclear, Autosomal Recessive 3Tests Available
Cataract, Congenital, X-linkedTests Available
Cataract, Juvenile with Microcornea and GlucosuriaTests Available
Cataract, LamellarTests Available
Cataract, Polymorphic and LamellarTests Available
Cataract-Microcornea SyndromeTests Available
Cataracts, Autosomal DominantTests Available
Cataracts, Autosomal RecessiveTests Available
Catecholaminergic Polymorphic Ventricular TachycardiaTests Available
Catel-Manzke SyndromeTests Available
CATSPER-Related Male InfertilityTests Available
Caudal Dysgenesis SyndromeTests Available
CAV3-Related Distal MyopathyTests Available
CAV3-Related Hypertrophic CardiomyopathyTests Available
CAV3-Related Isolated HyperCKemiaTests Available
CAV3-Related Rippling Muscle DiseaseTests Available
CAV3-Related Sudden Infant Death SyndromeTests Available
CaveolinopathiesTests Available
CaveolinopathiesTests Available
Cayler Cardiofacial SyndromeTests Available
cbIJTests Available
cblCTests Available
cblCTests Available
cblDTests Available
cblD (variant 1)Tests Available
cblD (variant 2)Tests Available
cblETests Available
cblFTests Available
cblGTests Available
CBX2-Related 46,XY DSD and 46,XY CGDTests Available
CC2D2A-Related Joubert SyndromeTests Available
CC2D2A-Related Meckel SyndromeTests Available
CD19-Related Common Variable Immune DeficiencyTests Available
CD46-Related Atypical Hemolytic-Uremic SyndromeTests Available
CD81-Related Common Variable Immune DeficiencyTests Available
CDC73-Related DisordersTests Available
CDC73-Related Familial Isolated HyperparathyroidismTests Available
CDC73-Related Parathyroid CarcinomaTests Available
CDK4-Related Cutaneous Malignant MelanomaTests Available
CDKL5-Related Angelman-like SyndromeTests Available
CDKN2A-Related Cutaneous Malignant MelanomaTests Available
CDON-Related HoloprosencephalyTests Available
Celiac DiseaseTests Available
Cenani-Lenz Syndactyly SyndromeTests Available
Central Core DiseaseTests Available
Central Hypothyroidism and Testicular EnlargementTests Available
Central Precocious Puberty 1Tests Available
Central Precocious Puberty 2Tests Available
Centronuclear Myopathy 1Tests Available
Centronuclear Myopathy 2Tests Available
Centronuclear Myopathy 3Tests Available
Centronuclear Myopathy 4Tests Available
CEP290-Related Bardet-Biedl SyndromeTests Available
CEP290-Related Joubert SyndromeTests Available
CEP290-Related Leber Congenital AmaurosisTests Available
CEP290-Related Meckel SyndromeTests Available
CEP41-Related Joubert SyndromeTests Available
Cerebellar Ataxia, Cayman TypeTests Available
Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 2Tests Available
Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 3Tests Available
Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 4Tests Available
Cerebellar Ataxia, Nonprogressive, with Mental RetardationTests Available
Cerebellar Atrophy, Visual Impairment and Psychomotor RetardationTests Available
Cerebellar Hypoplasia
Cerebral Amyloid Angiopathy, APP-RelatedTests Available
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma SyndromeTests Available
Cerebral Palsy, Spastic Quadriplegic, 1Tests Available
Cerebral Palsy, Spastic Quadriplegic, 2Tests Available
Cerebrooculofacioskeletal Syndrome 1Tests Available
Cerebrooculofacioskeletal Syndrome 4Tests Available
Cerebroretinal Microangiopathy with Calcifications and CystsTests Available
Cerebrotendinous XanthomatosisTests Available
CERKL-Related Retinitis PigmentosaTests Available
CERS-Related Autosomal Recessive Congenital Ichthyosis
CETP-Related HyperalphalipoproteinemiaTests Available
CFB-Related Atypical Hemolytic-Uremic SyndromeTests Available
CFC1-Related Conotruncal Heart MalformationsTests Available
CFC1-Related Visceral HeterotaxyTests Available
CFH-Related Atypical Hemolytic-Uremic SyndromeTests Available
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type IITests Available
CFHR1 and CFHR4-Related Atypical Hemolytic-Uremic SyndromeTests Available
CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic SyndromeTests Available
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type IITests Available
CFI-Related Atypical Hemolytic-Uremic SyndromeTests Available
CFL2-Related Nemaline MyopathyTests Available
CFTR-Related DisordersTests Available
CFTR-Related Hereditary PancreatitisTests Available
Chanarin-Dorfman SyndromeTests Available
Char SyndromeTests Available
Charcot-Marie-Tooth NeuropathyTests Available
Charcot-Marie-Tooth Neuropathy Dominant Intermediate ETests Available
Charcot-Marie-Tooth Neuropathy Dominant Intermediate FTests Available
Charcot-Marie-Tooth Neuropathy Recessive Intermediate DTests Available
Charcot-Marie-Tooth Neuropathy Type 1Tests Available
Charcot-Marie-Tooth Neuropathy Type 1ATests Available
Charcot-Marie-Tooth Neuropathy Type 1BTests Available
Charcot-Marie-Tooth Neuropathy Type 1CTests Available
Charcot-Marie-Tooth Neuropathy Type 1DTests Available
Charcot-Marie-Tooth Neuropathy Type 1ETests Available
Charcot-Marie-Tooth Neuropathy Type 1F/2ETests Available
Charcot-Marie-Tooth Neuropathy Type 2Tests Available
Charcot-Marie-Tooth Neuropathy Type 2ATests Available
Charcot-Marie-Tooth Neuropathy Type 2ATests Available
Charcot-Marie-Tooth Neuropathy Type 2A2Tests Available
Charcot-Marie-Tooth Neuropathy Type 2BTests Available
Charcot-Marie-Tooth Neuropathy Type 2B1Tests Available
Charcot-Marie-Tooth Neuropathy Type 2B2Tests Available
Charcot-Marie-Tooth Neuropathy Type 2CTests Available
Charcot-Marie-Tooth Neuropathy Type 2DTests Available
Charcot-Marie-Tooth Neuropathy Type 2E/1FTests Available
Charcot-Marie-Tooth Neuropathy Type 2FTests Available
Charcot-Marie-Tooth Neuropathy Type 2GTests Available
Charcot-Marie-Tooth Neuropathy Type 2H/2KTests Available
Charcot-Marie-Tooth Neuropathy Type 2I/2JTests Available
Charcot-Marie-Tooth Neuropathy Type 2LTests Available
Charcot-Marie-Tooth Neuropathy Type 2NTests Available
Charcot-Marie-Tooth Neuropathy Type 2OTests Available
Charcot-Marie-Tooth Neuropathy Type 2PTests Available
Charcot-Marie-Tooth Neuropathy Type 2QTests Available
Charcot-Marie-Tooth Neuropathy Type 2RTests Available
Charcot-Marie-Tooth Neuropathy Type 2STests Available
Charcot-Marie-Tooth Neuropathy Type 2UTests Available
Charcot-Marie-Tooth Neuropathy Type 4Tests Available
Charcot-Marie-Tooth Neuropathy Type 4ATests Available
Charcot-Marie-Tooth Neuropathy Type 4B1Tests Available
Charcot-Marie-Tooth Neuropathy Type 4B2Tests Available
Charcot-Marie-Tooth Neuropathy Type 4B3Tests Available
Charcot-Marie-Tooth Neuropathy Type 4CTests Available
Charcot-Marie-Tooth Neuropathy Type 4DTests Available
Charcot-Marie-Tooth Neuropathy Type 4ETests Available
Charcot-Marie-Tooth Neuropathy Type 4FTests Available
Charcot-Marie-Tooth Neuropathy Type 4HTests Available
Charcot-Marie-Tooth Neuropathy Type 4JTests Available
Charcot-Marie-Tooth Neuropathy XTests Available
Charcot-Marie-Tooth Neuropathy X Type 1Tests Available
Charcot-Marie-Tooth Neuropathy X Type 2Tests Available
Charcot-Marie-Tooth Neuropathy X Type 3Tests Available
Charcot-Marie-Tooth Neuropathy X Type 4Tests Available
Charcot-Marie-Tooth Neuropathy X Type 5Tests Available
Charcot-Marie-Tooth Neuropathy X Type 6Tests Available
CHARGE SyndromeTests Available
CHAT-Related Congenital Myasthenic SyndromeTests Available
CHD7-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Chediak-Higashi SyndromeTests Available
CHEK2-Related Susceptibility to Breast and Colorectal CancerTests Available
CHEK2-Related Susceptibility to Breast CancerTests Available
CherubismTests Available
Chiari Malformation Type ITests Available
Chilblain Lupus 1Tests Available
Chilblain Lupus 2Tests Available
CHILD SyndromeTests Available
Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
Childhood Disintegrative Disorder
Childhood Myocerebrohepatopathy Spectrum DisordersTests Available
Childhood Restrictive CardiomyopathyTests Available
Childhood-Onset Reducing Body Myopathy, X-LinkedTests Available
Chitotriosidase DeficiencyTests Available
CHKB-Related Muscle DiseasesTests Available
CHKB-Related Muscle DiseasesTests Available
CHMP2B-Related Amyotrophic Lateral SclerosisTests Available
Choanal Atresia and LymphedemaTests Available
Choanal Atresia, Posterior
CholangiocarcinomaTests Available
Cholestasis, Familial Intrahepatic, of Pregnancy 1Tests Available
Cholestasis, Familial Intrahepatic, of Pregnancy 3Tests Available
Cholestasis, Progressive Familial Intrahepatic 4Tests Available
Cholestasis, Progressive Familial Intrahepatic 5Tests Available
Cholesterol Desmolase-Deficient Congenital Adrenal HyperplasiaTests Available
Cholesterol Ester Storage DiseaseTests Available
Chondrocalcinosis 2Tests Available
Chondrodysplasia Punctata 1, X-LinkedTests Available
Chondrodysplasia Punctata 2, X-LinkedTests Available
Chondrodysplasia Punctata, Tibia Metacarpal Type
Chondrodysplasia Punctata, Unclassified
Chondrodysplasia with Joint Dislocations, GPAPP TypeTests Available
Chondrodysplasia, Blomstrand TypeTests Available
Chondrodysplasia, Grebe TypeTests Available
CHOPS SyndromeTests Available
Chordoma
Chorea and DementiaTests Available
Chorea-acanthocytosisTests Available
Choreoathetosis, Hypothyroidism, and Neonatal Respiratory DistressTests Available
Choroidal Dystrophy, Central Areolar 2Tests Available
ChoroideremiaTests Available
CHRNA1-Related Congenital Myasthenic SyndromeTests Available
CHRNA1-Related Multiple Pterygium Syndrome, Lethal TypeTests Available
CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
CHRNA7-Related DisordersTests Available
CHRNB1-Related Congenital Myasthenic SyndromeTests Available
CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
CHRND-Related Congenital Myasthenic SyndromeTests Available
CHRND-Related Multiple Pterygium Syndrome, Lethal TypeTests Available
CHRNE-Related Congenital Myasthenic SyndromeTests Available
CHRNG-Related DisordersTests Available
Chromosome 11p15.5-Related Russell-Silver SyndromeTests Available
Chromosome 7-Related Russell-Silver SyndromeTests Available
Chromosome Breakage SyndromesTests Available
Chronic and Adult-Onset Hexosaminidase A DeficiencyTests Available
Chronic Granulomatous DiseaseTests Available
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-NegativeTests Available
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type ITests Available
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type IITests Available
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type IIITests Available
Chronic Granulomatous Disease, X-linkedTests Available
Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-LinkedTests Available
Chronic Infantile Neurological Cutaneous and Articular SyndromeTests Available
Chronic Lymphocytic LeukemiaTests Available
Chronic Myelocytic LeukemiaTests Available
CHST3-Related Skeletal DysplasiaTests Available
Chudley-McCullough SyndromeTests Available
Chudley-McCullough SyndromeTests Available
Chylomicron Retention DiseaseTests Available
Citrin DeficiencyTests Available
Citrullinemia Type ITests Available
Citrullinemia Type IITests Available
CK SyndromeTests Available
Classic Fabry DiseaseTests Available
Classic Non-deforming Osteogenesis Imperfecta with Blue ScleraeTests Available
Classic Rett SyndromeTests Available
CLCF1-Related Cold-Induced Sweating Syndrome including Crisponi SyndromeTests Available
CLCN2-Related Juvenile Myoclonic EpilepsyTests Available
CLCN7-Related OsteopetrosisTests Available
Cleft Lip +/- Cleft PalateTests Available
Cleft Lip, Congenital Healed
Cleft Lip/Palate-Ectodermal Dysplasia SyndromeTests Available
Cleft Palate, Isolated
Cleft Palate, X-LinkedTests Available
Cleft Soft Palate
Cleidocranial DysplasiaTests Available
CLN1 DiseaseTests Available
CLN10 DiseaseTests Available
CLN11 DiseaseTests Available
CLN12 DiseaseTests Available
CLN13 DiseaseTests Available
CLN14 DiseaseTests Available
CLN2 DiseaseTests Available
CLN3 DiseaseTests Available
CLN4 DiseaseTests Available
CLN5 DiseaseTests Available
CLN6 DiseaseTests Available
CLN7 DiseaseTests Available
CLN8 DiseaseTests Available
CLOVES SyndromeTests Available
CLRN1-Related Retinitis PigmentosaTests Available
CNGA1-Related Retinitis PigmentosaTests Available
CNGB1-Related Retinitis PigmentosaTests Available
CNGB3-Related Stargardt Disease 1Tests Available
COACH SyndromeTests Available
COASY-Associated NeurodegenerationTests Available
Coats diseaseTests Available
Cobblestone LissencephalyTests Available
Cockayne SyndromeTests Available
CODAS SyndromeTests Available
Coenzyme Q10 DeficiencyTests Available
Coffin-Lowry SyndromeTests Available
Coffin-Siris SyndromeTests Available
COG1-CDG (CDG-IIg)Tests Available
COG4-CDG (CDG-IIj)Tests Available
COG5-CDG (CDG-IIi)Tests Available
COG6-CDG (CDG-IIL)Tests Available
COG7-CDG (CDG-IIe)Tests Available
COG8-CDG (CDG-IIh)Tests Available
Cohen SyndromeTests Available
COL11A1-Related Stickler SyndromeTests Available
COL11A2-Related Stickler SyndromeTests Available
COL12A1-Related Muscle DiseasesTests Available
COL12A1-Related Muscle DiseasesTests Available
COL13A1-Related Congenital Myasthenic SyndromeTests Available
COL17A1-Related Junctional Epidermolysis BullosaTests Available
COL1A1/2-Related Osteogenesis ImperfectaTests Available
COL1A1/2-Related Osteogenesis ImperfectaTests Available
COL2A1-Associated Stickler SyndromeTests Available
COL2A1-Related Stickler SyndromeTests Available
COL4A1-Related DisordersTests Available
COL4A3-Related NephropathyTests Available
COL4A4-Related NephropathyTests Available
COL4A5-Related NephropathyTests Available
COL9A1-Related Multiple Epiphyseal DysplasiaTests Available
COL9A1-Related Stickler SyndromeTests Available
COL9A2-Related Multiple Epiphyseal DysplasiaTests Available
COL9A2-Related Stickler SyndromeTests Available
COL9A3-Related Multiple Epiphyseal DysplasiaTests Available
Cold-Induced Sweating Syndrome including Crisponi SyndromeTests Available
Cole DiseaseTests Available
Cole-Carpenter Syndrome 1Tests Available
Cole-Carpenter Syndrome 2Tests Available
Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular DystrophyTests Available
Collagen Type VI-Related DisordersTests Available
Collagen Type VI-Related DisordersTests Available
Coloboma
Coloboma of Optic NerveTests Available
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies SyndromeTests Available
Colon Cancer (APC I1307K related)Tests Available
Colon Cancer, Advanced Somatic
Colorectal CancerTests Available
Colorectal Cancer Susceptibility 10Tests Available
Colorectal Cancer Susceptibility 12Tests Available
Colorectal Cancer, SomaticTests Available
Colorectal Cancer, SomaticTests Available
Colorectal Cancer, SomaticTests Available
COLQ-Related Congenital Myasthenic SyndromeTests Available
Combined Cellular and Humoral Immune Defects with GranulomasTests Available
Combined D-2- and L-2-Hydroxyglutaric AciduriaTests Available
Combined Malonic and Methylmalonic AciduriaTests Available
Combined Oxidative Phosphorylation Deficiency 1Tests Available
Combined Oxidative Phosphorylation Deficiency 10Tests Available
Combined Oxidative Phosphorylation Deficiency 11Tests Available
Combined Oxidative Phosphorylation Deficiency 12Tests Available
Combined Oxidative Phosphorylation Deficiency 13Tests Available
Combined Oxidative Phosphorylation Deficiency 14Tests Available
Combined Oxidative Phosphorylation Deficiency 15Tests Available
Combined Oxidative Phosphorylation Deficiency 16Tests Available
Combined Oxidative Phosphorylation Deficiency 17Tests Available
Combined Oxidative Phosphorylation Deficiency 18Tests Available
Combined Oxidative Phosphorylation Deficiency 19Tests Available
Combined Oxidative Phosphorylation Deficiency 2Tests Available
Combined Oxidative Phosphorylation Deficiency 20Tests Available
Combined Oxidative Phosphorylation Deficiency 21Tests Available
Combined Oxidative Phosphorylation Deficiency 22Tests Available
Combined Oxidative Phosphorylation Deficiency 23Tests Available
Combined Oxidative Phosphorylation Deficiency 24Tests Available
Combined Oxidative Phosphorylation Deficiency 25Tests Available
Combined Oxidative Phosphorylation Deficiency 3Tests Available
Combined Oxidative Phosphorylation Deficiency 4Tests Available
Combined Oxidative Phosphorylation Deficiency 5Tests Available
Combined Oxidative Phosphorylation Deficiency 6Tests Available
Combined Oxidative Phosphorylation Deficiency 7Tests Available
Combined Oxidative Phosphorylation Deficiency 8Tests Available
Combined Oxidative Phosphorylation Deficiency 9Tests Available
Combined Saposin DeficiencyTests Available
Common Variable Immune DeficiencyTests Available
Common Variable Osteogenesis Imperfecta with Normal ScleraeTests Available
COMP-Related Multiple Epiphyseal DysplasiaTests Available
Complement Component C2 DeficiencyTests Available
Complement Factor D DeficiencyTests Available
Complete Androgen Insensitivity SyndromeTests Available
Complex Glycerol Kinase Deficiency
Compton-North Congenital MyopathyTests Available
COMT-Related Altered Drug MetabolismTests Available
COMT-Related Pain Sensitivity AlterationTests Available
Cone Dystrophy 3Tests Available
Cone-Rod DystrophyTests Available
Cone-Rod Dystrophy 1Tests Available
Cone-Rod Dystrophy 11Tests Available
Cone-Rod Dystrophy 12Tests Available
Cone-Rod Dystrophy 13Tests Available
Cone-Rod Dystrophy 14Tests Available
Cone-Rod Dystrophy 15Tests Available
Cone-Rod Dystrophy 16Tests Available
Cone-Rod Dystrophy 18
Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 2Tests Available
Cone-Rod Dystrophy 20Tests Available
Cone-Rod Dystrophy 21
Cone-Rod Dystrophy 3Tests Available
Cone-Rod Dystrophy 4Tests Available
Cone-Rod Dystrophy 5Tests Available
Cone-Rod Dystrophy 6Tests Available
Cone-Rod Dystrophy 7Tests Available
Cone-Rod Dystrophy 9Tests Available
Cone-Rod Dystrophy, AIPL1-RelatedTests Available
Cone-Rod Dystrophy, PRPH2-Related Tests Available
Cone-Rod Dystrophy, UNC119-RelatedTests Available
Congenital Absence of the Vas DeferensTests Available
Congenital Adrenal HyperplasiaTests Available
Congenital Adrenal Hyperplasia due to Apparent Combined P450c17 and P450c21 DeficiencyTests Available
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility toTests Available
Congenital Aural AtresiaTests Available
Congenital Cataracts, Facial Dysmorphism, and NeuropathyTests Available
Congenital Cataracts, Hearing Loss, and NeurodegenerationTests Available
Congenital Central Hypoventilation SyndromeTests Available
Congenital Contractural ArachnodactylyTests Available
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental DelayTests Available
Congenital Deafness with Labyrinthine Aplasia, Microtia, and MicrodontiaTests Available
Congenital Diaphragmatic HerniaTests Available
Congenital Disorders of GlycosylationTests Available
Congenital Dyserythropoietic Anemia Type ITests Available
Congenital Dyserythropoietic Anemia Type IbTests Available
Congenital Dyserythropoietic Anemia Type IITests Available
Congenital Dyserythropoietic Anemia Type IIITests Available
Congenital Dyserythropoietic Anemia Type IVTests Available
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis and hyper IgETests Available
Congenital Erythropoietic PorphyriaTests Available
Congenital Fiber-Type DisproportionTests Available
Congenital Fibrosis of the Extraocular MusclesTests Available
Congenital Fibrosis of the Extraocular Muscles 1A
Congenital Fibrosis of the Extraocular Muscles 1B
Congenital Fibrosis of the Extraocular Muscles 2Tests Available
Congenital Fibrosis of the Extraocular Muscles 3ATests Available
Congenital Fibrosis of the Extraocular Muscles 3B
Congenital Fibrosis of the Extraocular Muscles 3C
Congenital Fibrosis of the Extraocular Muscles 4
Congenital Fibrosis of the Extraocular Muscles 5Tests Available
Congenital Finnish NephrosisTests Available
Congenital Generalized Lipodystrophy Type 3Tests Available
Congenital Generalized Lipodystrophy Type 4Tests Available
Congenital Heart Defects, Nonsyndromic 2Tests Available
Congenital Heart Disease, Atrial Septal DefectTests Available
Congenital Hepatic FibrosisTests Available
Congenital Hypomyelinating NeuropathyTests Available
Congenital HypothyroidismTests Available
Congenital Hypothyroidism, DUOX2-RelatedTests Available
Congenital Hypothyroidism, DUOXA2-RelatedTests Available
Congenital Hypothyroidism, IYD-RelatedTests Available
Congenital Hypothyroidism, Nongoitrous 1Tests Available
Congenital Hypothyroidism, Nongoitrous 2Tests Available
Congenital Hypothyroidism, Nongoitrous 4Tests Available
Congenital Hypothyroidism, Nongoitrous 6Tests Available
Congenital Hypothyroidism, TPO-RelatedTests Available
Congenital Indifference to Pain, Autosomal RecessiveTests Available
Congenital Lactase DeficiencyTests Available
Congenital Malabsorptive Diarrhea 4Tests Available
Congenital Muscular DystrophyTests Available
Congenital Muscular Dystrophy due to Integrin Alpha-7 DeficiencyTests Available
Congenital Muscular Dystrophy, LMNA-RelatedTests Available
Congenital Muscular Dystrophy, Megaconial TypeTests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 10Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 11Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 12Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 13Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 6Tests Available
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6Tests Available
Congenital Myasthenic Syndrome with Tubular Aggregates 2Tests Available
Congenital Myasthenic SyndromesTests Available
Congenital MyopathyTests Available
Congenital Neuromuscular Disease with Uniform Type 1 FiberTests Available
Congenital Nystagmus 6, X-LinkedTests Available
Congenital Primary AphakiaTests Available
Congenital Short Bowel SyndromeTests Available
Congenital Stationary Night BlindnessTests Available
Congenital Stationary Night Blindness, Autosomal Dominant 1Tests Available
Congenital Stationary Night Blindness, Autosomal Dominant 2Tests Available
Congenital Stationary Night Blindness, Autosomal Dominant 3Tests Available
Congenital Stationary Night Blindness, Type 1BTests Available
Congenital Stationary Night Blindness, Type 1CTests Available
Congenital Stationary Night Blindness, Type 1DTests Available
Congenital Stationary Night Blindness, Type 1ETests Available
Congenital Stationary Night Blindness, Type 1FTests Available
Congenital Stationary Night Blindness, Type 2BTests Available
Congenital Stationary Night Blindness, X-LinkedTests Available
Congenital Stromal Corneal DystrophyTests Available
Congenital Sucrase-Isomaltase DeficiencyTests Available
Congenital Syndromic Diarrhea 3, Secretory SodiumTests Available
Congenital Vertical TalusTests Available
Conotruncal Anomaly Face SyndromeTests Available
Conotruncal Heart Malformations, VariableTests Available
COQ2-Related Coenzyme Q10 DeficiencyTests Available
COQ4-Related Coenzyme Q10 DeficiencyTests Available
COQ6-Related Coenzyme Q10 DeficiencyTests Available
COQ7-Related Coenzyme Q10 DeficiencyTests Available
COQ8A-Related Coenzyme Q10 DeficiencyTests Available
COQ9-Related Coenzyme Q10 DeficiencyTests Available
Corneal DystrophyTests Available
Corneal Dystrophy of Bowman Layer, Type 1Tests Available
Corneal Dystrophy, Epithelial Basement MembraneTests Available
Corneal Dystrophy, Fuchs Endothelial 1Tests Available
Corneal Dystrophy, Fuchs Endothelial 8Tests Available
Corneal Dystrophy, Gelatinous Drop-LikeTests Available
Corneal Dystrophy, MeesmannTests Available
Corneal Dystrophy, Polymorphous PosteriorTests Available
Corneal Dystrophy, Posterior Polymorphous 2Tests Available
Corneal Dystrophy, Posterior Polymorphous 3Tests Available
Corneal Dystrophy, Posterior Polymorphous, 1Tests Available
Corneal Dystrophy, Schnyder TypeTests Available
Corneal Endothelial Dystrophy 2, Autosomal RecessiveTests Available
Corneal Fleck DystrophyTests Available
Corneal Intraepithelial Dyskeratosis and Ectodermal DysplasiaTests Available
Corneal Opacification and other Ocular AnomaliesTests Available
Cornelia de Lange SyndromeTests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 1Tests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 2Tests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 3Tests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 4Tests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 5Tests Available
Cortical Dysplasia, Complex, with Other Brain Malformations 6Tests Available
Cortical Dysplasia-Focal Epilepsy SyndromeTests Available
Cortical Malformations, OccipitalTests Available
Corticobasal Degeneration, MAPT-RelatedTests Available
Corticosterone Methyloxidase Type I DeficiencyTests Available
Corticosterone Methyloxidase Type II DeficiencyTests Available
Cortisone Reductase Deficiency 2Tests Available
Costello SyndromeTests Available
Cousin SyndromeTests Available
Cowden SyndromeTests Available
Cowden Syndrome 3Tests Available
Cowden Syndrome 6Tests Available
CR2-Related Common Variable Immune DeficiencyTests Available
CR2-Related Susceptibility to Systemic Lupus ErythematosusTests Available
Craniodiaphyseal DysplasiaTests Available
Cranioectodermal DysplasiaTests Available
Cranioectodermal Dysplasia 1Tests Available
Cranioectodermal Dysplasia 2Tests Available
Cranioectodermal Dysplasia 3Tests Available
Cranioectodermal Dysplasia 4Tests Available
Craniofacial Dysmorphism, Skeletal Anomalies and Mental Retardation SyndromeTests Available
Craniofacial Microsomia
Craniofacial-Deafness-Hand SyndromeTests Available
Craniofrontonasal SyndromeTests Available
Craniolenticulosutural DysplasiaTests Available
Craniometaphyseal Dysplasia, Autosomal DominantTests Available
Craniometaphyseal Dysplasia, Autosomal RecessiveTests Available
Craniosynostosis and Dental AnomaliesTests Available
Craniosynostosis, NonsyndromicTests Available
CRB1-Related Leber Congenital AmaurosisTests Available
CRB1-Related Retinitis PigmentosaTests Available
Creatine Deficiency SyndromesTests Available
CREBBP-Related Rubinstein-Taybi SyndromeTests Available
CRH-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
Cri du Chat SyndromeTests Available
Crigler-Najjar SyndromeTests Available
Crigler-Najjar Syndrome, Type ITests Available
Crigler-Najjar Syndrome, Type IITests Available
CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi SyndromeTests Available
Crohn DiseaseTests Available
Crouzon SyndromeTests Available
Crouzon Syndrome with Acanthosis NigricansTests Available
CRTAP-Related Osteogenesis ImperfectaTests Available
CRTAP-Related Osteogenesis ImperfectaTests Available
CRX-Related Leber Congenital AmaurosisTests Available
CRX-Related Retinitis PigmentosaTests Available
CRYAB-Related Dilated CardiomyopathyTests Available
CSF1R-Related Hereditary Diffuse Leukoencephalopathy with SpheroidsTests Available
CSF2RA-Related Pulmonary Surfactant Metabolism DysfunctionTests Available
CSFRB-Related Pulmonary Surfactant Metabolism DysfunctionTests Available
CSPP1-Related Joubert SyndromeTests Available
CSRP3-Related Dilated CardiomyopathyTests Available
CSRP3-Related Familial Hypertrophic CardiomyopathyTests Available
CST3-Related Cerebral Amyloid AngiopathyTests Available
CTRC-Related Hereditary PancreatitisTests Available
Currarino SyndromeTests Available
Cutaneous Malignant MelanomaTests Available
Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary AbnormalitiesTests Available
Cyanosis, Transient NeonatalTests Available
Cyclic NeutropeniaTests Available
CYP1A2-Related Altered Drug MetabolismTests Available
CYP1B1-Related Primary Congenital GlaucomaTests Available
CYP2B6-Related Altered Drug MetabolismTests Available
CYP2C19-Related Altered Drug MetabolismTests Available
CYP2C8-Related Altered Drug MetabolismTests Available
CYP2C9-Related Altered Drug MetabolismTests Available
CYP2D6-Related Altered Drug MetabolismTests Available
CYP3A4-Related Altered Drug MetabolismTests Available
CYP3A5-Related Altered Drug MetabolismTests Available
CYP4F2-Related Altered Drug MetabolismTests Available
CYP4F22-Related Autosomal Recessive Congenital IchthyosisTests Available
CystathioninuriaTests Available
Cystic FibrosisTests Available
CystinosisTests Available
CystinuriaTests Available
Cytochrome P450 Oxidoreductase DeficiencyTests Available
Czech DysplasiaTests Available
 

D 

D-2-Hydroxyglutaric Aciduria 1Tests Available
D-2-Hydroxyglutaric Aciduria 2Tests Available
D-GlycericacidemiaTests Available
DAG1-Related Muscle DiseasesTests Available
Dandy-Walker SyndromeTests Available
Danon DiseaseTests Available
Darier-White DiseaseTests Available
DCX-Related DisordersTests Available
DCX-Related LissencephalyTests Available
DCX-Related Subcortical Band HeterotopiaTests Available
DDB2-Related Xeroderma PigmentosumTests Available
DDOST-CDG (CDG-Ir)Tests Available
DDX41-Related Susceptibility to Familial Myeloproliferative/Lymphoproliferative NeoplasmsTests Available
De Sanctis-Cacchione SyndromeTests Available
Deafness and MyopiaTests Available
Deafness, Autosomal Dominant 39 with DentinogenesisTests Available
Deafness, Dystonia and Cerebral HypomyelinationTests Available
Deafness, Mitochondrial, Modifier ofTests Available
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and Seizures SyndromeTests Available
Deafness, X-Linked 5Tests Available
Deafness-Dystonia-Optic Neuronopathy SyndromeTests Available
Deafness-Infertility SyndromeTests Available
Debre-Type Cutis LaxaTests Available
Dehydrated Hereditary Stomatocytosis 2Tests Available
Dehydrated Hereditary Stomatocytosis with or without Pseudohyperkalemia and, or Perinatal EdemaTests Available
Delayed-/Late-Onset Adenosine Deaminase Deficiency
Delta-SarcoglycanopathyTests Available
Delta-ThalassemiaTests Available
Dementia with Epilepsy, MAPT-RelatedTests Available
Dementia, FrontotemporalTests Available
Dementia, Lewy BodyTests Available
Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type IITests Available
Dent DiseaseTests Available
Dent Disease 1Tests Available
Dent Disease 2Tests Available
Dental Anomalies and Short StatureTests Available
Dentin Dysplasia, Type ITests Available
Dentin Dysplasia, Type IITests Available
Dentinogenesis Imperfecta 1Tests Available
Dentinogenesis Imperfecta, Shields Type IIITests Available
Denys-Drash SyndromeTests Available
Dermatofibrosarcoma ProtuberansTests Available
Dermatopathia Pigmentosa ReticularisTests Available
DES-Related Dilated CardiomyopathyTests Available
Desbuquois DysplasiaTests Available
Desbuquois Dysplasia 2Tests Available
DesminopathyTests Available
Desmoid Disease, HereditaryTests Available
DesmosterolosisTests Available
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse HairTests Available
DFNA 1 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 2 Nonsyndromic Hearing LossTests Available
DFNA 2B Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 3 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 3 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 4 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 4B Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 5 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 6/14/38 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 8/12 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA 9 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA10 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA11 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA13 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA15 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA17 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA20/26 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA22 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA23 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA25 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA28 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA36 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA40 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA41 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA44 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA48 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA50 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA51 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing LossTests Available
DFNA64 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA65 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA69 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA76 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNA91 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 1 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 1 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 2 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 3 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 6 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 7/11 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB 8/10 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB12 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB15 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB16 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB18 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB21 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB22 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB23 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB24 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB25 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB28 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB29 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB30 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB31 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB35 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB36 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB37 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB39 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB42 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB48 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB49 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB53 Nonsyndromic Hearing Loss and Deafness
DFNB59 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB61 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB63 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB67 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB70 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB74 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB77 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB79 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB84 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB86 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB89 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNB93 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNX1 (DFN2) Nonsyndromic Hearing Loss and DeafnessTests Available
DFNX1 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNX2 Nonsyndromic Hearing Loss and DeafnessTests Available
DFNX4 (DFN6) Nonsyndromic Hearing Loss and DeafnessTests Available
DFNX6 Nonsyndromic Hearing Loss and DeafnessTests Available
DGKE-Related Atypical Hemolytic-Uremic SyndromeTests Available
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral FormTests Available
DHDDS-Related Retinitis PigmentosaTests Available
DHH-Related 46,XY DSD and 46,XY CGDTests Available
Diabetes and Hearing LossTests Available
Diabetes Mellitus, 6q24-Related Transient NeonatalTests Available
Diabetes Mellitus, Insulin-Dependent, 20Tests Available
Diabetes Mellitus, Insulin-Resistant, with Acanthosis NigricansTests Available
Diabetes Mellitus, KCNJ11-Related Transient NeonatalTests Available
Diabetes Mellitus, Neonatal, with Congenital HypothyroidismTests Available
Diabetes Mellitus, Noninsulin-DependentTests Available
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and HypertensionTests Available
Diabetes Mellitus, Permanent Neonatal, with Cerebellar AgenesisTests Available
Diamond-Blackfan AnemiaTests Available
DiaphanospondylodysostosisTests Available
Diaphragmatic Hernia 3Tests Available
Diaphyseal Medullary Stenosis with Malignant Fibrous HistiocytomaTests Available
Diarrhea with Microvillus Atrophy 2Tests Available
Diastrophic DysplasiaTests Available
Dicarboxylicaminoaciduria
Diffuse Mesangial Sclerosis Syndromes (DMS)Tests Available
Diffuse Mesangial Sclerosis Syndromes (DMS)Tests Available
DiGeorge SyndromeTests Available
DiGeorge Syndrome 2Tests Available
Digital Arthropathy-BrachydactylyTests Available
DIH1-Related Congenital Diaphragmatic HerniaTests Available
Dihydrolipoamide Dehydrogenase E3 DeficiencyTests Available
Dihydropyrimidinase DeficiencyTests Available
Dihydropyrimidine Dehydrogenase DeficiencyTests Available
Dilated CardiomyopathyTests Available
Dilated Cardiomyopathy with Hypergonadotropic HypogonadismTests Available
Dilated Cardiomyopathy with Quadriceps MyopathyTests Available
Dimethylglycine Dehydrogenase DeficiencyTests Available
Disorders of Intracellular Cobalamin MetabolismTests Available
Distal Congenital Nonprogressive Spinal Muscular AtrophyTests Available
Distal Hereditary Motor Neuronopathy Type VBTests Available
Distal Hereditary Motor Neuronopathy Type VIIBTests Available
Distal Hereditary Motor Neuronopathy, Type IIATests Available
Distal Hereditary Motor Neuronopathy, Type IIBTests Available
Distal Hereditary Motor Neuronopathy, Type IICTests Available
Distal Hereditary Motor Neuropathy Type VTests Available
Distal Hereditary Motor Neuropathy, Type VIIATests Available
Distal Myopathy 2Tests Available
Distal Myopathy 4Tests Available
Distal Renal Tubular Acidosis with Progressive Nerve DeafnessTests Available
Distal Spinal Muscular Atrophy 4Tests Available
Distal Spinal Muscular Atrophy VTests Available
DKC1-Related Dyskeratosis CongenitaTests Available
DLL3-Related Spondylocostal Dysostosis, Autosomal RecessiveTests Available
DMD-Associated Dilated CardiomyopathyTests Available
DMD-Related Dilated CardiomyopathyTests Available
DNAJB6-Related Myofibrillar MyopathyTests Available
DNAJC6-Related Parkinson DiseaseTests Available
DNASE1-Related Susceptibility to Systemic Lupus ErythematosusTests Available
DNM2-Related Intermediate Charcot-Marie-Tooth NeuropathyTests Available
DNMT1-Related Dementia, Deafness, and Sensory NeuropathyTests Available
DOK7-Related Congenital Myasthenic SyndromeTests Available
DOK7-Related Fetal Akinesia Deformation SequenceTests Available
DOLK-CDG (CDG-Im)Tests Available
Dominant Dystrophic Epidermolysis BullosaTests Available
Donnai-Barrow SyndromeTests Available
Donohue SyndromeTests Available
Dopa-Responsive Dystonia Due to Sepiapterin Reductase DeficiencyTests Available
Dopamine Beta-Hydroxylase DeficiencyTests Available
Double-Outlet Right VentricleTests Available
Dowling-Degos Disease 1Tests Available
Dowling-Degos Disease 2Tests Available
Dowling-Degos Disease 4Tests Available
Doyne Honeycomb Retinal DystrophyTests Available
DPAGT1-CDG (CDG-Ij)Tests Available
DPM1-CDG (CDG-Ie)Tests Available
DPM2-CDG (CDG-Iu)Tests Available
DPM3-CDG (CDG-Io)Tests Available
DPYD-Related Altered Drug MetabolismTests Available
DRPLATests Available
DSG2-Related Dilated CardiomyopathyTests Available
DSP-Related Ectodermal Dysplasia/Skin Fragility SyndromeTests Available
Duane Retraction Syndrome 1
Duane Retraction Syndrome 2Tests Available
Duane SyndromeTests Available
Duane-Radial Ray SyndromeTests Available
Duarte Variant GalactosemiaTests Available
Dubin-Johnson SyndromeTests Available
Dubowitz Syndrome
Duchenne Muscular DystrophyTests Available
Dyggve-Melchior-Clausen SyndromeTests Available
Dysalbuminemic Hyperthyroxinemia
Dyschromatosis Symmetrica Hereditaria 1Tests Available
Dyschromatosis Universalis Hereditaria 3Tests Available
DysferlinopathyTests Available
DysferlinopathyTests Available
Dyskeratosis CongenitaTests Available
Dysmyelinating Leukodystrophy and Spastic Paraparesis with or without DystoniaTests Available
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Dyssegmental Dysplasia, Silverman-Handmaker TypeTests Available
DystoniaTests Available
Dystonia 16Tests Available
Dystonia 18Tests Available
Dystonia 2Tests Available
Dystonia 23Tests Available
Dystonia 24Tests Available
Dystonia 25Tests Available
Dystonia 26, MyoclonicTests Available
Dystonia 4Tests Available
Dystonia 6Tests Available
Dystonia 7Tests Available
Dystonia 9Tests Available
Dystonia, Juvenile-OnsetTests Available
Dystonia, MyoclonicTests Available
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver DiseaseTests Available
Dystrophic Epidermolysis BullosaTests Available
DystrophinopathiesTests Available
 

E 

Early Infantile Epileptic EncephalopathyTests Available
Early Onset SarcoidosisTests Available
Early-Onset Familial Alzheimer DiseaseTests Available
Early-Onset Familial Alzheimer DiseaseTests Available
Early-Onset Primary Dystonia (DYT1)Tests Available
Early-Onset Severe Reducing Body Myopathy, X-LinkedTests Available
ECE1-Related Hirschsprung DiseaseTests Available
Ectodermal Dysplasia 4, Hair/Nail TypeTests Available
Ectodermal Dysplasia, Anhidrotic, with T-cell ImmunodeficiencyTests Available
Ectodermal Dysplasia/Short Stature SyndromeTests Available
Ectodermal Dysplasia/Skin Fragility SyndromeTests Available
Ectopia Lentis et PupillaeTests Available
Ectopia Lentis, IsolatedTests Available
EctrodactylyTests Available
Ectrodactyly with Tibial Hemimelia
Ectrodactyly, Ectodermal Dysplasia, Clefting SyndromeTests Available
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (Non-TP63-Related)Tests Available
EDICT SyndromeTests Available
EDN3-Related Hirschsprung DiseaseTests Available
EDNRB-Related Hirschsprung DiseaseTests Available
EEM SyndromeTests Available
EFEMP2-Related Cutis LaxaTests Available
EFHC1-Related Juvenile Myoclonic EpilepsyTests Available
Ehlers-Danlos Syndrome Musculocontractural Type 2Tests Available
Ehlers-Danlos Syndrome Type ITests Available
Ehlers-Danlos Syndrome Type IITests Available
Ehlers-Danlos Syndrome Type IVTests Available
Ehlers-Danlos Syndrome Type VIATests Available
Ehlers-Danlos Syndrome Type VIIATests Available
Ehlers-Danlos Syndrome Type VIIBTests Available
Ehlers-Danlos Syndrome Type VIICTests Available
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing LossTests Available
Ehlers-Danlos Syndrome, Autosomal Recessive, due to Tenascin X DeficiencyTests Available
Ehlers-Danlos Syndrome, Classic TypeTests Available
Ehlers-Danlos Syndrome, Classic Type, COL1A1-RelatedTests Available
Ehlers-Danlos Syndrome, Classic Type, COL5A1-RelatedTests Available
Ehlers-Danlos Syndrome, Classic Type, COL5A1-RelatedTests Available
Ehlers-Danlos Syndrome, Classic Type, COL5A2-RelatedTests Available
Ehlers-Danlos Syndrome, Classic Type, COL5A2-RelatedTests Available
Ehlers-Danlos Syndrome, Hypermobility TypeTests Available
Ehlers-Danlos Syndrome, Kyphoscoliotic FormTests Available
Ehlers-Danlos Syndrome, Musculocontractural TypeTests Available
Ehlers-Danlos Syndrome, Progeroid Type 1Tests Available
Ehlers-Danlos Syndrome, Progeroid Type 2Tests Available
Ehlers-Danlos Syndrome, Type VIITests Available
EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White MatterTests Available
EIF4G1-Related Parkinson DiseaseTests Available
Eiken Skeletal DysplasiaTests Available
EJM2-Related Juvenile Myoclonic Epilepsy
EJM3-Related Juvenile Myoclonic Epilepsy
EJM4-Related Juvenile Myoclonic Epilepsy
ELANE-Related NeutropeniaTests Available
Elevated Adenosine Triphosphate of ErythrocytesTests Available
Elliptocytosis 1Tests Available
Elliptocytosis 2Tests Available
Elliptocytosis 2Tests Available
Elliptocytosis 3Tests Available
Ellis-van Creveld SyndromeTests Available
ELN-Related Cutis LaxaTests Available
Emanuel Syndrome
EMD-Related Emery-Dreifuss Muscular Dystrophy, X-LinkedTests Available
Emery-Dreifuss Muscular DystrophyTests Available
Endocardial FibroelastosisTests Available
Endometrial Carcinoma, SomaticTests Available
ENG-Related Hereditary Hemorrhagic TelangiectasiaTests Available
Enhanced S-Cone SyndromeTests Available
Enlarged Parietal ForaminaTests Available
Enterokinase DeficiencyTests Available
EP300-Related Rubinstein-Taybi SyndromeTests Available
EPB42-Related SpherocytosisTests Available
EPCAM-Related Lynch SyndromeTests Available
EPHX1-Related Familial HypercholanemiaTests Available
Epidermodysplasia VerruciformisTests Available
Epidermolysis Bullosa SimplexTests Available
Epidermolysis Bullosa Simplex with Migratory Circinate ErythemaTests Available
Epidermolysis Bullosa Simplex with Mottled PigmentationTests Available
Epidermolysis Bullosa Simplex with Muscular DystrophyTests Available
Epidermolysis Bullosa Simplex, Autosomal Recessive 2Tests Available
Epidermolysis Bullosa Simplex, Dowling-Meara TypeTests Available
Epidermolysis Bullosa Simplex, LocalizedTests Available
Epidermolysis Bullosa Simplex, Ogna TypeTests Available
Epidermolysis Bullosa Simplex, Other GeneralizedTests Available
Epidermolysis Bullosa with Pyloric AtresiaTests Available
Epidermolysis Bullosa, Lethal AcantholyticTests Available
Epidermolysis Bullosa, Nonspecific Autosomal RecessiveTests Available
Epidermolytic Palmoplantar KeratodermaTests Available
EpilepsyTests Available
Epilepsy with Neurodevelopmental DefectsTests Available
Epilepsy, Childhood Absence, Susceptibility to, 2Tests Available
Epilepsy, Childhood Absence, Susceptibility to, 4Tests Available
Epilepsy, Childhood Absence, Susceptibility to, 5Tests Available
Epilepsy, Childhood Absence, Susceptibility to, 6Tests Available
Epilepsy, Early-Onset, Vitamin B6-DependentTests Available
Epilepsy, Familial Focal with Variable Foci 1Tests Available
Epilepsy, Familial Focal with Variable Foci 2Tests Available
Epilepsy, Familial Temporal Lobe, 1Tests Available
Epilepsy, Familial Temporal Lobe, 5Tests Available
Epilepsy, Familial Temporal Lobe, 7Tests Available
Epilepsy, Hearing Loss, and Mental Retardation SyndromeTests Available
Epilepsy, Idiopathic Generalized, Susceptibility to, 8Tests Available
Epilepsy, Juvenile Absence, Susceptibility to, 1Tests Available
Epilepsy, Juvenile Absence, Susceptibility to, 2Tests Available
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior DisordersTests Available
Epileptic Encephalopathy, Childhood-onsetTests Available
Epileptic Encephalopathy, Early Infantile, 1Tests Available
Epileptic Encephalopathy, Early Infantile, 10Tests Available
Epileptic Encephalopathy, Early Infantile, 11Tests Available
Epileptic Encephalopathy, Early Infantile, 12Tests Available
Epileptic Encephalopathy, Early Infantile, 13Tests Available
Epileptic Encephalopathy, Early Infantile, 15Tests Available
Epileptic Encephalopathy, Early Infantile, 16Tests Available
Epileptic Encephalopathy, Early Infantile, 17Tests Available
Epileptic Encephalopathy, Early Infantile, 18Tests Available
Epileptic Encephalopathy, Early Infantile, 19Tests Available
Epileptic Encephalopathy, Early Infantile, 2Tests Available
Epileptic Encephalopathy, Early Infantile, 21Tests Available
Epileptic Encephalopathy, Early Infantile, 23Tests Available
Epileptic Encephalopathy, Early Infantile, 24Tests Available
Epileptic Encephalopathy, Early Infantile, 25Tests Available
Epileptic Encephalopathy, Early Infantile, 26Tests Available
Epileptic Encephalopathy, Early Infantile, 27Tests Available
Epileptic Encephalopathy, Early Infantile, 28Tests Available
Epileptic Encephalopathy, Early Infantile, 29Tests Available
Epileptic Encephalopathy, Early Infantile, 3Tests Available
Epileptic Encephalopathy, Early Infantile, 30Tests Available
Epileptic Encephalopathy, Early Infantile, 31Tests Available
Epileptic Encephalopathy, Early Infantile, 32Tests Available
Epileptic Encephalopathy, Early Infantile, 33Tests Available
Epileptic Encephalopathy, Early Infantile, 34Tests Available
Epileptic Encephalopathy, Early Infantile, 36Tests Available
Epileptic Encephalopathy, Early Infantile, 4Tests Available
Epileptic Encephalopathy, Early Infantile, 5Tests Available
Epileptic Encephalopathy, Early Infantile, 8Tests Available
Epileptic Encephalopathy, Early Infantile, 9Tests Available
Epileptic Encephalopathy, Lennox-Gastaut TypeTests Available
Epimerase Deficiency GalactosemiaTests Available
Episodic Ataxia Type 1Tests Available
Episodic Ataxia Type 2Tests Available
Episodic Ataxia Type 5Tests Available
Episodic Ataxia Type 6Tests Available
EPM2A-Related Lafora DiseaseTests Available
Epsilon-Trimethyllysine Hydroxylase DeficiencyTests Available
Epstein SyndromeTests Available
ERBB4-Related Amyotrophic Lateral Sclerosis
ERCC1-Related Xeroderma PigmentosumTests Available
ERCC2-Related Xeroderma PigmentosumTests Available
ERCC3-Related Xeroderma PigmentosumTests Available
ERCC4-Related Fanconi AnemiaTests Available
ERCC4-Related Xeroderma PigmentosumTests Available
ERCC5-Related Xeroderma PigmentosumTests Available
ERCC6-Related Cockayne SyndromeTests Available
ERCC8-Related Cockayne SyndromeTests Available
ERF-Related CraniosynostosisTests Available
Erosive VitreoretinopathyTests Available
Erythrocyte AMP Deaminase DeficiencyTests Available
Erythrocytosis due to Bisphosphoglycerate Mutase DeficiencyTests Available
Erythrocytosis, SomaticTests Available
Erythropoietic Protoporphyria, Autosomal RecessiveTests Available
Escobar SyndromeTests Available
Esophageal Atresia/Tracheoesophageal Fistula
Estrogen ResistanceTests Available
Ethylmalonic EncephalopathyTests Available
Evans Syndrome with Immunodeficiency and Premature ImmunosenescenceTests Available
EVC-Related Ellis-van Creveld SyndromeTests Available
EVC2-Related Ellis-van Creveld SyndromeTests Available
Exfoliation Syndrome, Susceptibility toTests Available
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-likeTests Available
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial HyperostosisTests Available
Exstrophy of Bladder
Exudative Vitreoretinopathy 6Tests Available
EYA1-Related Branchiootorenal Spectrum DisordersTests Available
EYA4-Related Dilated CardiomyopathyTests Available
EYS-Related Retinitis PigmentosaTests Available
EZH2-Related OvergrowthTests Available
EZH2-Related Weaver SyndromeTests Available
 

F 

F5-Related Budd-Chiari SyndromeTests Available
F9-Related Altered Drug Metabolism
Fabry DiseaseTests Available
Facio-auriculo-vertebral Syndrome
Facioscapulohumeral Muscular DystrophyTests Available
Facioscapulohumeral Muscular Dystrophy 2Tests Available
Factor V and Factor VIII, Combined Deficiency ofTests Available
Factor V Cambridge ThrombophiliaTests Available
Factor V DeficiencyTests Available
Factor V Leiden ThrombophiliaTests Available
Factor V R2 Mutation ThrombophiliaTests Available
Factor VII DeficiencyTests Available
Factor VII Marburg I Variant ThrombophiliaTests Available
Factor X DeficiencyTests Available
Factor XI DeficiencyTests Available
Factor XII DeficiencyTests Available
Factor XIII Subunit A DeficiencyTests Available
Factor XIII Subunit B DeficiencyTests Available
Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency
FAM161A-Related Retinitis PigmentosaTests Available
Familial Acute Myeloid Leukemia (AML) with Mutated CEBPATests Available
Familial Adenomatous PolyposisTests Available
Familial Adenomatous Polyposis 3Tests Available
Familial Advanced Sleep Phase Syndrome 1
Familial Amyloid CardiomyopathyTests Available
Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type)
Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type)
Familial Atrial FibrillationTests Available
Familial Atypical Mycobacteriosis, IFNGR1-RelatedTests Available
Familial Atypical Mycobacteriosis, IFNGR2-RelatedTests Available
Familial Atypical Mycobacteriosis, IL12B-RelatedTests Available
Familial Atypical Mycobacteriosis, IL12RB1-RelatedTests Available
Familial Atypical Mycobacteriosis, STAT1-RelatedTests Available
Familial Atypical Mycobacteriosis, TYK2-RelatedTests Available
Familial Atypical Mycobacteriosis, X-Linked, CYBB-RelatedTests Available
Familial Atypical Mycobacteriosis, X-Linked, IKBKG-RelatedTests Available
Familial Behcet-like Autoinflammatory SyndromeTests Available
Familial Candidiasis 2Tests Available
Familial Candidiasis 5Tests Available
Familial Candidiasis 6Tests Available
Familial Cerebral Cavernous MalformationTests Available
Familial Cerebral Cavernous Malformation 1Tests Available
Familial Cerebral Cavernous Malformation 2Tests Available
Familial Cerebral Cavernous Malformation 3Tests Available
Familial Cerebral Cavernous Malformation 4
Familial Chloride DiarrheaTests Available
Familial Cold Autoinflammatory Syndrome 1Tests Available
Familial Cold Autoinflammatory Syndrome 2Tests Available
Familial Cold Autoinflammatory Syndrome 3Tests Available
Familial Cortical MyoclonusTests Available
Familial Creutzfeldt-Jakob DiseaseTests Available
Familial Cutaneous Telangiectasia and Cancer SyndromeTests Available
Familial CylindromatosisTests Available
Familial Developmental Dysphasia
Familial DysautonomiaTests Available
Familial Dyskinesia with Facial MyokymiaTests Available
Familial Encephalopathy with Neuroserpin Inclusion BodiesTests Available
Familial Episodic Pain Syndrome 2Tests Available
Familial Episodic Pain Syndrome 3Tests Available
Familial Erythrocytosis 1Tests Available
Familial Erythrocytosis 2Tests Available
Familial Erythrocytosis 3Tests Available
Familial Erythrocytosis 4Tests Available
Familial Exudative VitreoretinopathyTests Available
Familial Exudative Vitreoretinopathy, Autosomal DominantTests Available
Familial Febrile Seizures 3BTests Available
Familial Febrile Seizures 4Tests Available
Familial Hemiplegic MigraineTests Available
Familial Hemiplegic Migraine 1Tests Available
Familial Hemiplegic Migraine 2Tests Available
Familial Hemiplegic Migraine 3Tests Available
Familial Hemophagocytic LymphohistiocytosisTests Available
Familial Hemophagocytic Lymphohistiocytosis 1Tests Available
Familial Hemophagocytic Lymphohistiocytosis 2Tests Available
Familial Hemophagocytic Lymphohistiocytosis 3Tests Available
Familial Hemophagocytic Lymphohistiocytosis 4Tests Available
Familial Hemophagocytic Lymphohistiocytosis 5Tests Available
Familial High Density Lipoprotein DeficiencyTests Available
Familial Hodgkin Disease
Familial Horizontal Gaze Palsy with Progressive ScoliosisTests Available
Familial HypercholanemiaTests Available
Familial HypercholesterolemiaTests Available
Familial HyperinsulinismTests Available
Familial Hypertrophic CardiomyopathyTests Available
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-RelatedTests Available
Familial Hypocalciuric Hypercalcemia Type IITests Available
Familial Hypocalciuric Hypercalcemia Type IIITests Available
Familial Hypocalciuric Hypercalcemia, Type ITests Available
Familial Infantile Convulsions with Paroxysmal ChoreoathetosisTests Available
Familial Infantile Myoclonic EpilepsyTests Available
Familial Isolated HypoparathyroidismTests Available
Familial Isolated Noncompaction of Left Ventricular MyocardiumTests Available
Familial Juvenile Hyperuricemic Nephropathy Type 1Tests Available
Familial Juvenile Hyperuricemic Nephropathy Type 2Tests Available
Familial Lipoprotein Lipase DeficiencyTests Available
Familial Mediterranean FeverTests Available
Familial Mediterranean Fever Type 1Tests Available
Familial Mediterranean Fever Type 2Tests Available
Familial Medullary Thyroid CarcinomaTests Available
Familial Mosaic Monosomy 7 Syndrome
Familial Non-Hodgkin LymphomaTests Available
Familial Oculoleptomeningeal Amyloidosis
Familial Pancreatic CancerTests Available
Familial Papillary Thyroid CarcinomaTests Available
Familial Paroxysmal Kinesigenic DyskinesiaTests Available
Familial Paroxysmal Nonkinesigenic DyskinesiaTests Available
Familial Partial Lipodystrophy Type 2Tests Available
Familial Partial Lipodystrophy Type 3Tests Available
Familial Partial Lipodystrophy Type 4Tests Available
Familial Partial Lipodystrophy Type 5Tests Available
Familial Partial Lipodystrophy, Kobberling Type
Familial Platelet Disorder with Propensity to Acute Myelogenous LeukemiaTests Available
Familial PseudohyperkalemiaTests Available
Familial Pulmonary FibrosisTests Available
Familial Restrictive CardiomyopathyTests Available
Familial SchizencephalyTests Available
Familial Schizencephaly, EMX2-RelatedTests Available
Familial Schizencephaly, SHH-RelatedTests Available
Familial Schizencephaly, SIX3-RelatedTests Available
Familial Spinal NeurofibromatosisTests Available
Familial Thrombotic Thrombocytopenia PurpuraTests Available
Familial Transthyretin AmyloidosisTests Available
Familial Vestibulopathy
Familial Wilms TumorTests Available
Familial/Multiple CancerTests Available
FANCA-Related Fanconi AnemiaTests Available
FANCB-Related Fanconi AnemiaTests Available
FANCC-Related Fanconi AnemiaTests Available
FANCD2-Related Fanconi AnemiaTests Available
FANCE-Related Fanconi AnemiaTests Available
FANCF-Related Fanconi AnemiaTests Available
FANCG-Related Fanconi AnemiaTests Available
FANCI-Related Fanconi AnemiaTests Available
FANCL-Related Fanconi AnemiaTests Available
FANCM-Related Fanconi AnemiaTests Available
Fanconi AnemiaTests Available
Fanconi Renotubular Syndrome 2Tests Available
Fanconi-Bickel SyndromeTests Available
Farber LipogranulomatosisTests Available
FAS-Related Autoimmune Lymphoproliferative SyndromeTests Available
FAS-Related Autoimmune Lymphoproliferative SyndromeTests Available
FASLG-Related Autoimmune Lymphoproliferative SyndromeTests Available
FASLG-Related Autoimmune Lymphoproliferative SyndromeTests Available
Fatal Familial InsomniaTests Available
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 1Tests Available
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 2Tests Available
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 3Tests Available
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency 4Tests Available
Fatal Infantile Lactic AcidosisTests Available
Fatty Acid Hydroxylase-Associated NeurodegenerationTests Available
Fatty Acid Hydroxylase-Associated NeurodegenerationTests Available
Fatty Acid Oxidation DisordersTests Available
Fazio-Londe DiseaseTests Available
FBLN5-Related Cutis LaxaTests Available
FBN1-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
FBN1-Related Weill-Marchesani SyndromeTests Available
FBXL4-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic FormTests Available
FBXO7-Related Parkinson DiseaseTests Available
Fechtner SyndromeTests Available
Feingold Syndrome 1Tests Available
Feingold Syndrome 2Tests Available
Fetal Hemoglobin Quantitative Trait Locus 1Tests Available
FG Syndrome 2Tests Available
FG Syndrome Type 1Tests Available
FGA-Related Congenital AfibrinogenemiaTests Available
FGA-Related Familial Visceral AmyloidosisTests Available
FGB-Related Congenital AfibrinogenemiaTests Available
FGD1-Related X-Linked Mental RetardationTests Available
FGF10-Related Lacrimo-Auriculo-Dento-Digital SyndromeTests Available
FGF8-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
FGFR-Related CraniosynostosisTests Available
FGFR1-Related CraniosynostosisTests Available
FGFR1-Related CraniosynostosisTests Available
FGFR1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
FGFR2-Related CraniosynostosisTests Available
FGFR2-Related CraniosynostosisTests Available
FGFR2-Related Isolated Coronal SynostosisTests Available
FGFR2-Related Lacrimo-Auriculo-Dento-Digital SyndromeTests Available
FGFR3-Related CraniosynostosisTests Available
FGFR3-Related CraniosynostosisTests Available
FGFR3-Related Isolated Coronal SynostosisTests Available
FGFR3-Related Isolated Coronal SynostosisTests Available
FGFR3-Related Lacrimo-Auriculo-Dento-Digital SyndromeTests Available
FGG-Related Congenital AfibrinogenemiaTests Available
FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-LinkedTests Available
FHL1-Related Myofibrillar MyopathyTests Available
Fibrochondrogenesis 1Tests Available
Fibrochondrogenesis 2Tests Available
Fibrodysplasia Ossificans ProgressivaTests Available
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and OligodactylyTests Available
Fibular Hypoplasia
Fibular Hypoplasia and Complex BrachydactylyTests Available
FIG4-Related Amyotrophic Lateral SclerosisTests Available
FilaminopathyTests Available
FILS SyndromeTests Available
First and Second Branchial Arch Syndrome
FKBP10-Related Osteogenesis ImperfectaTests Available
FKBP10-Related Osteogenesis ImperfectaTests Available
FKRP-Related Muscle DiseasesTests Available
FKRP-Related Muscle DiseasesTests Available
FKTN-Related Dilated CardiomyopathyTests Available
FKTN-Related Muscle DiseasesTests Available
FKTN-Related Muscle DiseasesTests Available
Fleck Retina, Familial BenignTests Available
Fletcher Factor DeficiencyTests Available
FLNA-Related DisordersTests Available
FLNA-Related X-linked Cardiac Valvular DysplasiaTests Available
FLNB-Related DisordersTests Available
FLNC-Related Familial Restrictive CardiomyopathyTests Available
Floating-Harbor SyndromeTests Available
FMR1-Related DisordersTests Available
FMR1-Related Primary Ovarian InsufficiencyTests Available
Focal Cortical Dysplasia of TaylorTests Available
Focal Dermal HypoplasiaTests Available
Focal Epilepsy with Speech Disorder with or without Mental RetardationTests Available
Focal Facial Dermal Dysplasia 3Tests Available
Focal Segmental GlomerulosclerosisTests Available
Focal Segmental GlomerulosclerosisTests Available
Focal Segmental Glomerulosclerosis 1Tests Available
Focal Segmental Glomerulosclerosis 2Tests Available
Focal Segmental Glomerulosclerosis 3Tests Available
Focal Segmental Glomerulosclerosis 4, Susceptibility toTests Available
Focal Segmental Glomerulosclerosis 5Tests Available
Focal Segmental Glomerulosclerosis 6Tests Available
Focal Segmental Glomerulosclerosis 7Tests Available
Focal Segmental Glomerulosclerosis 8Tests Available
Focal Segmental Glomerulosclerosis 9Tests Available
Folate-Sensitive Susceptibility to Neural Tube DefectsTests Available
Forebrain DefectsTests Available
Formiminotransferase DeficiencyTests Available
Fourth Cranial Nerve Palsy, Familial Congenital
Foveal Hypoplasia 2Tests Available
Foveal Hypoplasia and Presenile Cataract SyndromeTests Available
FOXE3-Related Anterior Segment Mesenchymal DysgenesisTests Available
FOXE3-Related Cataracts, Autosomal DominantTests Available
FOXH1-Related HoloprosencephalyTests Available
FOXI1-Related Pendred SyndromeTests Available
Fragile X SyndromeTests Available
Fragile X-Associated Tremor/Ataxia SyndromeTests Available
Frank-ter Haar SyndromeTests Available
FRAS1-Related Fraser SyndromeTests Available
Frasier SyndromeTests Available
Free Sialic Acid Storage DisordersTests Available
Freeman-Sheldon SyndromeTests Available
FREM2-Related Fraser SyndromeTests Available
Friedreich AtaxiaTests Available
FRMD7-Related Infantile NystagmusTests Available
Frontometaphyseal DysplasiaTests Available
Frontonasal Dysplasia 1Tests Available
Frontonasal Dysplasia 2Tests Available
Frontonasal Dysplasia 3Tests Available
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Tests Available
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2Tests Available
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4Tests Available
Frontotemporal Dementia with Parkinsonism-17Tests Available
Frontotemporal Dementia, Chromosome 3-LinkedTests Available
Fructose 1,6 Bisphosphatase DeficiencyTests Available
Fructosuria, EssentialTests Available
Fryns Syndrome
FSCN2-Related Retinitis PigmentosaTests Available
Fuchs Endothelial Corneal DystrophyTests Available
FucosidosisTests Available
Fukuyama Congenital Muscular DystrophyTests Available
Fumarate Hydratase DeficiencyTests Available
FUS-Related Amyotrophic Lateral SclerosisTests Available
FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal DominantTests Available
 

G 

G6PD-Related Altered Drug MetabolismTests Available
GABA-Transaminase DeficiencyTests Available
GABRA1-Related Juvenile Myoclonic EpilepsyTests Available
GABRD-Related Generalized Epilepsy with Febrile Seizures PlusTests Available
GABRD-Related Juvenile Myoclonic EpilepsyTests Available
GABRG2-Related Dravet SyndromeTests Available
GABRG2-Related Generalized Epilepsy with Febrile Seizures PlusTests Available
GADL1-Related Altered Drug MetabolismTests Available
Galactokinase DeficiencyTests Available
GalactosemiaTests Available
GalactosialidosisTests Available
Gallbladder Disease 1Tests Available
Galloway-Mowat SyndromeTests Available
Gamma-SarcoglycanopathyTests Available
GAPO SyndromeTests Available
Gardner SyndromeTests Available
GARS-Associated Axonal NeuropathyTests Available
GARS-Associated Axonal NeuropathyTests Available
Gastric Cancer, SomaticTests Available
Gastrointestinal Stromal TumorTests Available
GATA1-Related AnemiaTests Available
GATA1-Related Anemia with ThrombocytopeniaTests Available
GATA1-Related CytopeniaTests Available
GATA1-Related Diamond-Blackfan AnemiaTests Available
GATA1-Related NeutropeniaTests Available
GATA1-Related ThrombocytopeniaTests Available
GATA1-Related Thrombocytopenia with Beta-ThalassemiaTests Available
GATAD1-Related Dilated CardiomyopathyTests Available
Gaucher DiseaseTests Available
Gaucher Disease Type 1Tests Available
Gaucher Disease Type 2 (Acute)Tests Available
Gaucher Disease Type 3 (Subacute/Chronic)Tests Available
Gaucher Disease, Atypical, due to Saposin C DeficiencyTests Available
Gaucher Disease, Cardiovascular Form
Gaucher Disease, Perinatal-Lethal FormTests Available
GBA-Related Parkinson Disease SusceptibilityTests Available
GBE1-Related DisordersTests Available
GCK-Related HyperinsulinismTests Available
GCK-Related Permanent Neonatal Diabetes MellitusTests Available
GCM2-Related Familial Isolated HypoparathyroidismTests Available
GCSH-Related Glycine EncephalopathyTests Available
GDAP1-Related Intermediate Charcot-Marie-Tooth NeuropathyTests Available
GDF2-Related Hereditary Hemorrhagic TelangiectasiaTests Available
GDNF-Related Hirschsprung DiseaseTests Available
Geleophysic DysplasiaTests Available
Geleophysic Dysplasia 1Tests Available
Geleophysic Dysplasia 2Tests Available
Generalized Epilepsy and Paroxysmal DyskinesiaTests Available
Generalized Pustular PsoriasisTests Available
Genetic Prion DiseasesTests Available
Genitopatellar SyndromeTests Available
Geroderma OsteodysplasticaTests Available
Geroderma OsteodysplasticumTests Available
Gerstmann-Straussler-Scheinker DiseaseTests Available
GFPT1-Related Congenital Myasthenic SyndromeTests Available
Ghosal Hematodiaphyseal SyndromeTests Available
Giant Axonal NeuropathyTests Available
GIGYF2-Related Parkinson DiseaseTests Available
Gilbert SyndromeTests Available
Gingival Fibromatosis 1Tests Available
Gitelman SyndromeTests Available
GJA5-Related Familial Atrial FibrillationTests Available
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and DeafnessTests Available
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and DeafnessTests Available
GJB3-Related Erythrokeratodermia VariabilisTests Available
GJB4-Related Erythrokeratodermia VariabilisTests Available
GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and DeafnessTests Available
GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and DeafnessTests Available
GJC2-Related DisordersTests Available
Glass SyndromeTests Available
Glaucoma 1, Open Angle, 1OTests Available
Glaucoma 1, Open Angle, ATests Available
Glaucoma 1, Open Angle, ETests Available
Glaucoma 1, Open Angle, FTests Available
GLB1-Related DisordersTests Available
GLDC-Related Glycine EncephalopathyTests Available
GLI2-Related HoloprosencephalyTests Available
GLI3-Related DisordersTests Available
Glioma, Susceptibility to SomaticTests Available
Global Cerebral HypomyelinationTests Available
Glomerulopathy with Fibronectin Deposits 2
Glomuvenous MalformationTests Available
GLRA1-Related HyperekplexiaTests Available
GLRB-Related HyperekplexiaTests Available
Glucocorticoid Deficiency 1Tests Available
Glucocorticoid Deficiency 2Tests Available
Glucocorticoid ResistanceTests Available
Glucocorticoid-Remediable AldosteronismTests Available
Glucose Transporter Type 1 Deficiency SyndromeTests Available
Glucose-6-Phosphate Dehydrogenase DeficiencyTests Available
Glucose-Galactose MalabsorptionTests Available
GLUD1-Related HyperinsulinismTests Available
Glutamine Deficiency, CongenitalTests Available
Glutaric Acidemia IIATests Available
Glutaric Acidemia IIBTests Available
Glutaric Acidemia IICTests Available
Glutaric Aciduria IIITests Available
Glutaricacidemia Type 1Tests Available
Glutathione Synthetase DeficiencyTests Available
Glycerol Kinase DeficiencyTests Available
Glycine EncephalopathyTests Available
Glycine N-Methyltransferase DeficiencyTests Available
Glycogen Storage DiseaseTests Available
Glycogen Storage Disease IXcTests Available
Glycogen Storage Disease of Heart, Lethal CongenitalTests Available
Glycogen Storage Disease Type 0, LiverTests Available
Glycogen Storage Disease Type 0, MuscleTests Available
Glycogen Storage Disease Type ITests Available
Glycogen Storage Disease Type IaTests Available
Glycogen Storage Disease Type IbTests Available
Glycogen Storage Disease Type IcTests Available
Glycogen Storage Disease Type II (Pompe Disease)Tests Available
Glycogen Storage Disease Type IIITests Available
Glycogen Storage Disease Type IVTests Available
Glycogen Storage Disease Type VTests Available
Glycogen Storage Disease Type VITests Available
Glycogen Storage Disease Type VIITests Available
Glycogen Storage Disease Type XTests Available
Glycogen Storage Disease Type XIVTests Available
Glycogen Storage Disease XITests Available
Glycogen Storage Disease XIIITests Available
Glycogen Storage Disease XVTests Available
Glycoprotein 1a DeficiencyTests Available
GM1 GangliosidosisTests Available
GM1 GangliosidosisTests Available
GM1 Gangliosidosis Type ITests Available
GM1 Gangliosidosis Type IITests Available
GM1 Gangliosidosis Type IIITests Available
GM2 Activator DeficiencyTests Available
Gnathodiaphyseal DysplasiaTests Available
GNE-Related MyopathyTests Available
GNPTAB-Related MucolipidosesTests Available
GNRH1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
GNRHR-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Goldberg-Shprintzen Megacolon SyndromeTests Available
Goldenhar Syndrome
Gordon Holmes SyndromeTests Available
Gout, HPRT1-RelatedTests Available
GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1Tests Available
GPC4-Related Simpson-Golabi-Behmel Syndrome Type 1Tests Available
GPHN-Related HyperekplexiaTests Available
Gracile Bone DysplasiaTests Available
Gracile SyndromeTests Available
Gray Platelet SyndromeTests Available
Greenberg DysplasiaTests Available
Greig Cephalopolysyndactyly SyndromeTests Available
GRIK4-Related Altered Drug MetabolismTests Available
GRIP1-Related Fraser SyndromeTests Available
Griscelli Syndrome, Type 1Tests Available
Griscelli Syndrome, Type 2Tests Available
Griscelli Syndrome, Type 3Tests Available
GRN-Related Frontotemporal DementiaTests Available
Growth Hormone Insensitivity with ImmunodeficiencyTests Available
Growth Hormone Insensitivity, PartialTests Available
Growth Retardation, Developmental Delay, Coarse Facies, and Early DeathTests Available
GTDC2-Related Muscle DiseasesTests Available
GTDC2-Related Muscle DiseasesTests Available
GTP Cyclohydrolase 1 Deficiency (GTPCH)Tests Available
GTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaTests Available
GTP Cyclohydrolase 1-Related DisordersTests Available
Guadalajara Camptodactyly Syndrome
Guanidinoacetate Methyltransferase DeficiencyTests Available
GUCA1B-Related Retinitis PigmentosaTests Available
GUCY2D-Related Leber Congenital AmaurosisTests Available
Guttmacher SyndromeTests Available
 

H 

HADH-Related HyperinsulinismTests Available
Haim-Munk SyndromeTests Available
Hajdu-Cheney SyndromeTests Available
Hallermann-Streiff Syndrome
Hamamy SyndromeTests Available
HAMP-Related Juvenile HemochromatosisTests Available
Hand-Foot-Genital SyndromeTests Available
Harlequin IchthyosisTests Available
HARP SyndromeTests Available
Hartnup DiseaseTests Available
Hartsfield SyndromeTests Available
HawkinsinuriaTests Available
HDAC8-Related Cornelia de Lange SyndromeTests Available
Hearing Loss/DeafnessTests Available
Heart-Hand Syndrome, Slovenian TypeTests Available
Heimler Syndrome 1Tests Available
Hemangioma, Capillary Infantile SusceptibilityTests Available
Hemangioma, Hereditary
Hemifacial Microsomia
Hemoglobin Constant SpringTests Available
Hemoglobin ETests Available
Hemoglobin PakseTests Available
Hemoglobin Quong SzeTests Available
Hemoglobin S Beta-ThalassemiaTests Available
Hemoglobin SCTests Available
Hemoglobin SDTests Available
Hemoglobin SOTests Available
Hemoglobin SSTests Available
Hemolytic Anemia due to Adenylate Kinase DeficiencyTests Available
Hemolytic Anemia due to Band 3 MontefioreTests Available
Hemolytic Anemia due to Gamma-glutamylcysteine Synthetase DeficiencyTests Available
Hemolytic Anemia due to Glutathione Peroxidase DeficiencyTests Available
Hemolytic Anemia due to Glutathione Reductase DeficiencyTests Available
Hemolytic Anemia due to Hexokinase DeficiencyTests Available
Hemolytic Anemia due to UMPH1 DeficiencyTests Available
Hemolytic Anemia, CD59-mediated, with or without Immune-mediated PolyneuropathyTests Available
Hemophilia ATests Available
Hemophilia BTests Available
Hemorrhagic Destruction of the Brain, Subependymal Calcification and CataractsTests Available
Hennekam Lymphangiectasia-Lymphedema SyndromeTests Available
Hennekam Lymphangiectasia-Lymphedema Syndrome 2Tests Available
HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical CystsTests Available
HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical CystsTests Available
Hepatic Adenoma, SomaticTests Available
Hepatic Failure, Early-Onset, and Neurologic Disorder due to Cytochrome C Oxidase DeficiencyTests Available
Hepatic Lipase DeficiencyTests Available
Hepatic Veno-occlusive Disease with ImmunodeficiencyTests Available
Hepatitis C Virus Infection, Response to Therapy ofTests Available
Hepatoerythropoietic PorphyriaTests Available
Hereditary AngioedemaTests Available
Hereditary Angioedema Type IIITests Available
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle CrampsTests Available
Hereditary AtaxiasTests Available
Hereditary Benign Intraepithelial Dyskeratosis
Hereditary Colorectal CancerTests Available
Hereditary Congenital Facial Paresis
Hereditary Congenital Facial Paresis 3Tests Available
Hereditary Congenital Ptosis
Hereditary CoproporphyriaTests Available
Hereditary Diffuse Gastric CancerTests Available
Hereditary Essential Tremor 1Tests Available
Hereditary Essential Tremor 4Tests Available
Hereditary Essential Tremor 5Tests Available
Hereditary Folate MalabsorptionTests Available
Hereditary Fructose IntoleranceTests Available
Hereditary Hearing Loss and DeafnessTests Available
Hereditary Hemorrhagic TelangiectasiaTests Available
Hereditary Hypophosphatemic Rickets with HypercalciuriaTests Available
Hereditary Leiomyomatosis and Renal Cell CancerTests Available
Hereditary Lymphedema IITests Available
Hereditary Mixed Polyposis Syndrome 1Tests Available
Hereditary Mixed Polyposis Syndrome 2Tests Available
Hereditary Motor and Sensory Neuropathy Russe TypeTests Available
Hereditary Motor and Sensory Neuropathy Type VIBTests Available
Hereditary Motor and Sensory Neuropathy VITests Available
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus CallosumTests Available
Hereditary Motor and Sensory Neuropathy, Okinawa TypeTests Available
Hereditary Multiple OsteochondromasTests Available
Hereditary Multiple Osteochondromatosis, Type ITests Available
Hereditary Multiple Osteochondromatosis, Type IITests Available
Hereditary Myopathy with Early Respiratory FailureTests Available
Hereditary Nephrotic SyndromesTests Available
Hereditary Nephrotic Syndromes, Autosomal DominantTests Available
Hereditary Nephrotic Syndromes, Autosomal DominantTests Available
Hereditary Nephrotic Syndromes, Autosomal RecessiveTests Available
Hereditary Nephrotic Syndromes, Autosomal RecessiveTests Available
Hereditary Neuralgic AmyotrophyTests Available
Hereditary Neuropathy with Liability to Pressure PalsiesTests Available
Hereditary PancreatitisTests Available
Hereditary Paraganglioma-Pheochromocytoma SyndromesTests Available
Hereditary Persistence of Fetal HemoglobinTests Available
Hereditary Persistence of Fetal Hemoglobin, KLF1-RelatedTests Available
Hereditary PyropoikilocytosisTests Available
Hereditary Sensory and Autonomic Neuropathy Type ICTests Available
Hereditary Sensory and Autonomic Neuropathy Type IETests Available
Hereditary Sensory and Autonomic Neuropathy Type IITests Available
Hereditary Sensory and Autonomic Neuropathy Type IIATests Available
Hereditary Sensory and Autonomic Neuropathy Type IIBTests Available
Hereditary Sensory and Autonomic Neuropathy Type IICTests Available
Hereditary Sensory and Autonomic Neuropathy Type IVTests Available
Hereditary Sensory and Autonomic Neuropathy Type VTests Available
Hereditary Sensory and Autonomic Neuropathy Type VITests Available
Hereditary Sensory and Autonomic Neuropathy Type VIITests Available
Hereditary Sensory and Autonomic Neuropathy Type VIII
Hereditary Sensory Neuropathy Type IATests Available
Hereditary Sensory Neuropathy Type IDTests Available
Hereditary Sensory Neuropathy Type IF
Hereditary Sideroblastic AnemiaTests Available
Hereditary Spastic ParaplegiaTests Available
Heritable Pulmonary Arterial HypertensionTests Available
Hermansky-Pudlak SyndromeTests Available
Hermansky-Pudlak Syndrome 1Tests Available
Hermansky-Pudlak Syndrome 2Tests Available
Hermansky-Pudlak Syndrome 3Tests Available
Hermansky-Pudlak Syndrome 4Tests Available
Hermansky-Pudlak Syndrome 5Tests Available
Hermansky-Pudlak Syndrome 6Tests Available
Hermansky-Pudlak Syndrome 7Tests Available
Hermansky-Pudlak Syndrome 8Tests Available
Hermansky-Pudlak Syndrome 9Tests Available
Herpes Simplex Encephalitis, 2, Susceptibility toTests Available
Herpes Simplex Encephalitis, 3, Susceptibility toTests Available
HES7-Related Spondylocostal Dysostosis, Autosomal RecessiveTests Available
HESX1-Related Combined Pituitary Hormone DeficiencyTests Available
Heterotaxy SyndromeTests Available
Hexosaminidase A DeficiencyTests Available
HFE-Associated Hereditary HemochromatosisTests Available
Hidrotic Ectodermal Dysplasia 2Tests Available
High Myopia with Cataract and Vitreoretinal DegenerationTests Available
Hirschsprung DiseaseTests Available
HistidinemiaTests Available
Histiocytosis-Lymphadenopathy Plus SyndromeTests Available
HJV (HFE2)-Related Juvenile HemochromatosisTests Available
HLA-A-Related Altered Drug MetabolismTests Available
HLA-B-Related Altered Drug MetabolismTests Available
HNF4A-Related HyperinsulinismTests Available
HNRNPA1-Related Amyotrophic Lateral SclerosisTests Available
Hodgkin LymphomaTests Available
Holocarboxylase Synthetase DeficiencyTests Available
HoloprosencephalyTests Available
Homocystinuria Caused by Cystathionine Beta-Synthase DeficiencyTests Available
HOXA1-Related DisordersTests Available
HOXD13-Related BrachydactylyTests Available
HPE6-Related HoloprosencephalyTests Available
HPE8-Related HoloprosencephalyTests Available
HPSE2-Related Urofacial SyndromeTests Available
HS6ST1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
HTR2A-Related Altered Drug MetabolismTests Available
HTR2C-Related Altered Drug MetabolismTests Available
HTRA2-Related Parkinson DiseaseTests Available
Humerospinal DysostosisTests Available
Huntington DiseaseTests Available
Huntington Disease-Like 1Tests Available
Huntington Disease-Like 2Tests Available
Hurler SyndromeTests Available
Hurler-Scheie SyndromeTests Available
Hutchinson-Gilford Progeria SyndromeTests Available
Hyalinosis, Inherited SystemicTests Available
Hydatidiform Mole, RecurrentTests Available
Hydrolethalus Syndrome 1Tests Available
Hydrolethalus Syndrome 2Tests Available
HydroxyprolinemiaTests Available
Hyper IgD SyndromeTests Available
Hyper-Beta-AlaninemiaTests Available
Hyperaldosteronism, Familial, Type IIITests Available
Hyperaldosteronism, Familial, Type IVTests Available
HyperammonemiaTests Available
Hypercalcemia, InfantileTests Available
Hypercalciuria, Absorptive 2Tests Available
Hyperchlorhidrosis, IsolatedTests Available
HyperekplexiaTests Available
Hypereosinophilic SyndromeTests Available
Hyperferritinemia Cataract SyndromeTests Available
Hyperkalemic Periodic ParalysisTests Available
Hyperkalemic Periodic Paralysis Type 1Tests Available
Hyperkalemic Periodic Paralysis Type 2Tests Available
Hyperleucine-IsoleucinemiaTests Available
Hyperlipidemia Combined 1Tests Available
Hyperlysinemia Type 1Tests Available
Hyperlysinemia Type IITests Available
Hypermethioninemia due to Adenosine Kinase DeficiencyTests Available
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase DeficiencyTests Available
Hyperornithinemia-Hyperammonemia-Homocitrullinuria SyndromeTests Available
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus PalatinusTests Available
Hyperoxaluria, PrimaryTests Available
Hyperoxaluria, Primary, Type 1Tests Available
Hyperoxaluria, Primary, Type 2Tests Available
Hyperoxaluria, Primary, Type 3Tests Available
Hyperparathyroidism 1Tests Available
Hyperparathyroidism-Jaw Tumor SyndromeTests Available
HyperphenylalaninemiaTests Available
Hyperphenylalaninemia, Mild and non-BH4-DeficientTests Available
Hyperphosphatasia with Mental Retardation SyndromeTests Available
Hyperphosphatasia with Mental Retardation Syndrome 1Tests Available
Hyperphosphatasia with Mental Retardation Syndrome 2Tests Available
Hyperphosphatasia with Mental Retardation Syndrome 3Tests Available
Hyperphosphatasia with Mental Retardation Syndrome 4Tests Available
Hyperphosphatasia with Mental Retardation Syndrome 5Tests Available
Hyperphosphatemic Familial Tumoral Calcinosis, FGF23-RelatedTests Available
Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-RelatedTests Available
Hyperphosphatemic Familial Tumoral Calcinosis, KL-RelatedTests Available
HyperprolactinemiaTests Available
Hyperprolinemia, Type ITests Available
Hyperprolinemia, Type IITests Available
Hypertension and Brachydactyly SyndromeTests Available
Hypertension, Early-onset, Autosomal Dominant, with Exacerbation in PregnancyTests Available
Hyperthyroidism, Familial GestationalTests Available
Hyperthyroidism, NonautoimmuneTests Available
Hypertrichosis Universalis Congenita
Hypertrichotic OsteochondrodysplasiaTests Available
Hypertriglyceridemia, FamilialTests Available
Hypertriglyceridemia, Transient InfantileTests Available
Hypertrophic Cardiomyopathy, Midventricular, DigenicTests Available
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 1Tests Available
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 2Tests Available
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and AlkalosisTests Available
Hypobetalipoproteinemia, Familial 1Tests Available
Hypobetalipoproteinemia, Familial 2Tests Available
HypochondroplasiaTests Available
Hypochromic Microcytic Anemia with Iron OverloadTests Available
Hypochromic Microcytic Anemia with Iron Overload 2Tests Available
Hypogonadotropic HypogonadismTests Available
Hypogonadotropic Hypogonadism 23 with or without AnosmiaTests Available
Hypohidrotic Ectodermal DysplasiaTests Available
Hypohidrotic Ectodermal Dysplasia with Immune DeficiencyTests Available
Hypohidrotic Ectodermal Dysplasia, AutosomalTests Available
Hypohidrotic Ectodermal Dysplasia, X-LinkedTests Available
Hypoinsulinemic Hypoglycemia with HemihypertrophyTests Available
Hypokalemic Periodic ParalysisTests Available
Hypokalemic Periodic Paralysis Type 1Tests Available
Hypokalemic Periodic Paralysis Type 2Tests Available
Hypomagnesemia 2, RenalTests Available
Hypomagnesemia 6, RenalTests Available
Hypomagnesemia with Secondary HypocalcemiaTests Available
Hypomagnesemia, Renal, with Ocular InvolvementTests Available
Hypomyelination and Congenital CataractTests Available
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg SpasticityTests Available
Hypoparathyroidism, Sensorineural Deafness, and Renal DiseaseTests Available
Hypoparathyroidism-Retardation-Dysmorphism SyndromeTests Available
HypophosphatasiaTests Available
Hypophosphatemic Nephrolithiasis/Osteoporosis, 1Tests Available
Hypophosphatemic Nephrolithiasis/Osteoporosis, 2Tests Available
Hypophosphatemic Rickets DisordersTests Available
Hypophosphatemic Rickets, Autosomal DominantTests Available
Hypophosphatemic Rickets, Autosomal Recessive 1Tests Available
Hypophosphatemic Rickets, Autosomal Recessive 2Tests Available
Hypophosphatemic Rickets, X-linked DominantTests Available
Hypophosphatemic Rickets, X-Linked RecessiveTests Available
Hypoplastic Left Heart SyndromeTests Available
Hypoplastic Left Heart Syndrome 2Tests Available
Hypospadias 1, X-linkedTests Available
Hypospadias 2, X-LinkedTests Available
Hypothyroidism, Congenital Nongoitrous, 5Tests Available
Hypotonia-Homocystinuria SyndromeTests Available
Hypotrichosis 1Tests Available
Hypotrichosis 11Tests Available
Hypotrichosis 12Tests Available
Hypotrichosis 13Tests Available
Hypotrichosis 2Tests Available
Hypotrichosis 3Tests Available
Hypotrichosis 4Tests Available
Hypotrichosis 6Tests Available
Hypotrichosis 7Tests Available
Hypotrichosis 8Tests Available
Hypotrichosis-Lymphedema-Telangiectasia SyndromeTests Available
 

I 

Ichthyosis Bullosa of SiemensTests Available
Ichthyosis Follicularis, Atrichia, and Photophobia SyndromeTests Available
Ichthyosis Prematurity SyndromeTests Available
Ichthyosis VulgarisTests Available
Ichthyosis, Congenital Autosomal Recessive 9Tests Available
Ichthyosis, Hystrix-like, with DeafnessTests Available
Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing CholangitisTests Available
Ichthyosis, Spastic Qudraplegia and Mental RetardationTests Available
Ichthyosis, X-LinkedTests Available
ICOS-Related Common Variable Immune DeficiencyTests Available
IDH3B-Related Retinitis PigmentosaTests Available
Idiopathic Ventricular FibrillationTests Available
IFIH1-Related Aicardi-Goutieres SyndromeTests Available
IFIH1-Related Aicardi-Goutieres SyndromeTests Available
IFITM5-Related Osteogenesis ImperfectaTests Available
IFITM5-Related Osteogenesis ImperfectaTests Available
IFNL3-Related Altered Drug MetabolismTests Available
IFT27-Related Bardet-Biedl SyndromeTests Available
IGH-Related Multiple MyelomaTests Available
IL21R-Related ImmunodeficiencyTests Available
IMAGe SyndromeTests Available
IminoglycinuriaTests Available
Immunodeficiency 10Tests Available
Immunodeficiency 11Tests Available
Immunodeficiency 12Tests Available
Immunodeficiency 14Tests Available
Immunodeficiency 15Tests Available
Immunodeficiency 21Tests Available
Immunodeficiency 22Tests Available
Immunodeficiency 24Tests Available
Immunodeficiency 26, with or without Neurologic AbnormalitiesTests Available
Immunodeficiency 30Tests Available
Immunodeficiency 32ATests Available
Immunodeficiency 32BTests Available
Immunodeficiency 36Tests Available
Immunodeficiency 38Tests Available
Immunodeficiency 8Tests Available
Immunodeficiency 9Tests Available
Immunodeficiency due to Defect in CD3-GammaTests Available
Immunodeficiency due to Defect in MAPBP-Interacting ProteinTests Available
Immunodeficiency due to Ficolin 3 DeficiencyTests Available
Immunodeficiency with Hyper-IgM, Type 2Tests Available
Immunodeficiency with Hyper-IgM, Type 3Tests Available
Immunodeficiency with Hyper-IgM, Type 5Tests Available
Immunodeficiency without Anhidrotic Ectodermal DysplasiaTests Available
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and NeoplasiaTests Available
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1Tests Available
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2Tests Available
Impaired Responsiveness to ClopidogrelTests Available
IMPDH1-Related Leber Congenital AmaurosisTests Available
IMPDH1-Related Retinitis PigmentosaTests Available
IMPG2-Related Retinitis PigmentosaTests Available
Inclusion Body Myopathy 3Tests Available
Inclusion Body Myopathy with Early-onset Paget Disease and Frontotemporal Dementia 1 Tests Available
Inclusion Body Myopathy with Early-onset Paget Disease with or without Frontotemporal Dementia 2Tests Available
Inclusion Body Myopathy with Early-onset Paget Disease with or without Frontotemporal Dementia 2Tests Available
Inclusion Body Myopathy with Early-onset Paget Disease with or without Frontotemporal Dementia 3Tests Available
Incontinentia PigmentiTests Available
Infantile Cerebellar-Retinal DegenerationTests Available
Infantile Free Sialic Acid Storage DiseaseTests Available
Infantile Liver Failure Syndrome 2Tests Available
Infantile Malignant CLCN7-Related Autosomal Recessive OsteopetrosisTests Available
Infantile Myopathy and Lactic Acidosis (Fatal and Non-Fatal Forms)Tests Available
Infantile Neuroaxonal DystrophyTests Available
Infantile Onset Ascending Hereditary Spastic ParalysisTests Available
Infantile Systemic Hyalinosis
Infantile-Onset Spinocerebellar AtaxiaTests Available
Infection-induced Acute Encephalopathy 3, SusceptibilityTests Available
Infection-induced Acute Encephalopathy 4, SusceptibilityTests Available
Inflammatory Bowel Disease 13Tests Available
Inflammatory Bowel Disease 25, Autosomal RecessiveTests Available
Inflammatory Bowel Disease 28, Autosomal RecessiveTests Available
INPP5E-Related Joubert SyndromeTests Available
INS-Related Permanent Neonatal Diabetes MellitusTests Available
INSR-Related HyperinsulinismTests Available
Insulin-Like Growth Factor I DeficiencyTests Available
Insulin-Like Growth Factor I, Resistance toTests Available
Intellectual DisabilityTests Available
Intellectual Disability and Microcephaly with Pontine and Cerebellar HypoplasiaTests Available
Interleukin 1 Receptor Antagonist DeficiencyTests Available
Interleukin 2 Receptor Alpha Chain DeficiencyTests Available
Intermediate Autosomal OsteopetrosisTests Available
Intermediate Charcot-Marie-Tooth NeuropathyTests Available
Intermediate Cystinosis
Interstitial Lung and Liver DiseaseTests Available
Interstitial Lung disease, Nephrotic Syndrome and Epidermolysis Bullosa, CongenitalTests Available
Interstitial Nephritis, KaryomegalicTests Available
Intrinsic Factor DeficiencyTests Available
IPEX SyndromeTests Available
IQCB1-Related Leber Congenital AmaurosisTests Available
IRAK4 DeficiencyTests Available
IRF6-Related DisordersTests Available
Iridogoniodysgenesis, Type 1Tests Available
Iris HypoplasiaTests Available
Iron Overload, Autosomal DominantTests Available
Iron-Refractory Iron Deficiency AnemiaTests Available
Isobutyryl-CoA Dehydrogenase DeficiencyTests Available
Isolated 17-Linked LissencephalyTests Available
Isolated AniridiaTests Available
Isolated Congenital Digital ClubbingTests Available
Isolated Diffuse Mesangial SclerosisTests Available
Isolated Follicle-Stimulating Hormone DeficiencyTests Available
Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Isolated Growth Hormone Deficiency, GHRH-Related
Isolated Growth Hormone Deficiency, Type IATests Available
Isolated Growth Hormone Deficiency, Type IB, GH1-RelatedTests Available
Isolated Growth Hormone Deficiency, Type IB, GHRHR-RelatedTests Available
Isolated Growth Hormone Deficiency, Type IITests Available
Isolated Growth Hormone Deficiency, Type IIITests Available
Isolated MicrophthalmiaTests Available
Isolated Microphthalmia 2 Tests Available
Isolated Microphthalmia 4Tests Available
Isolated Microphthalmia 5Tests Available
Isolated Microphthalmia 6Tests Available
Isolated Microphthalmia 8Tests Available
Isolated Nonsyndromic Congenital Heart Disease/DefectsTests Available
Isolated Persistent HypermethioninemiaTests Available
Isolated X-Linked Adrenal Hypoplasia CongenitaTests Available
Isovaleric AcidemiaTests Available
ISPD-Related Muscle DiseasesTests Available
ISPD-Related Muscle DiseasesTests Available
ITGA6-Related Epidermolysis Bullosa with Pyloric AtresiaTests Available
ITGAM-Related Susceptibility to Systemic Lupus ErythematosusTests Available
ITGB4-Related Epidermolysis Bullosa with Pyloric AtresiaTests Available
ITM2B-Related Cerebral Amyloid Angiopathy 1Tests Available
ITM2B-Related Cerebral Amyloid Angiopathy 2Tests Available
ITPA-Related Altered Drug MetabolismTests Available
 

J 

Jackson-Weiss SyndromeTests Available
Jacobsen SyndromeTests Available
JAG1-Related Alagille SyndromeTests Available
JAK2-Related Budd-Chiari SyndromeTests Available
Jalili SyndromeTests Available
Jawad SyndromeTests Available
Jervell and Lange-Nielsen SyndromeTests Available
Johanson-Blizzard SyndromeTests Available
Joubert Syndrome and Related DisordersTests Available
JPH2-Related Familial Hypertrophic CardiomyopathyTests Available
Junctional Epidermolysis BullosaTests Available
Juvenile (Subacute) Hexosaminidase A DeficiencyTests Available
Juvenile Hereditary HemochromatosisTests Available
Juvenile Hyaline FibromatosisTests Available
Juvenile Myelomonocytic Leukemia, Somatic ARHGAP26-Related
Juvenile Myelomonocytic Leukemia, Somatic CBL-RelatedTests Available
Juvenile Myelomonocytic Leukemia, Somatic NF1-RelatedTests Available
Juvenile Myelomonocytic Leukemia, Somatic PTPN11-RelatedTests Available
Juvenile Myoclonic EpilepsyTests Available
Juvenile Polyposis SyndromeTests Available
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia SyndromeTests Available
Juvenile Primary Lateral Sclerosis
 

K 

Kabuki SyndromeTests Available
KANSL1-Related Intellectual Disability SyndromeTests Available
Kanzaki diseaseTests Available
Kappa Light Chain DeficiencyTests Available
KARS-Related Intermediate Charcot-Marie-Tooth NeuropathyTests Available
Kartagener Syndrome
KAT6B-Related DisordersTests Available
Kaufman Oculocerebrofacial SyndromeTests Available
Kawasaki Disease, Susceptibility toTests Available
KBG SyndromeTests Available
KBTBD13-Related Nemaline MyopathyTests Available
KCNA5-Related Familial Atrial FibrillationTests Available
KCNE2-Related Familial Atrial FibrillationTests Available
KCNE5-Related Atrial FibrillationTests Available
KCNJ10-Related Pendred SyndromeTests Available
KCNJ11-Related HyperinsulinismTests Available
KCNJ11-Related Permanent Neonatal Diabetes MellitusTests Available
KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes MellitusTests Available
KCNJ13-Related Leber Congenital AmaurosisTests Available
KCNJ2-Related Familial Atrial FibrillationTests Available
KCNQ1-Related Familial Atrial FibrillationTests Available
KCNQ2-Related Benign Familial Neonatal EpilepsyTests Available
KCNQ2-Related DisordersTests Available
KCNQ2-Related Neonatal Epileptic EncephalopathyTests Available
KCNQ3-Related Benign Familial Neonatal EpilepsyTests Available
KCNT1 Epileptic Encephalopathy, Early Infantile, 14Tests Available
KCNT1-Related Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
KDM6A-Related Kabuki SyndromeTests Available
Kearns-Sayre SyndromeTests Available
Keloid Formation
Keloids
Kenny-Caffey Syndrome Type 1Tests Available
Kenny-Caffey Syndrome Type 2Tests Available
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal DominantTests Available
Keratoconus 1Tests Available
Keratosis Follicularis Spinulosa Decalvans, X-linkedTests Available
Keratosis Linearis with Ichthyosis Congenita and Sclerosing KeratodermaTests Available
Keratosis Palmoplantaris Striata I, ADTests Available
Keratosis Palmoplantaris Striata IITests Available
Ketothiolase DeficiencyTests Available
Keutel SyndromeTests Available
KIAA0586-Related Joubert SyndromeTests Available
KIAA2022-Related X-Linked Mental RetardationTests Available
KIF14-Related Meckel SyndromeTests Available
KIF1B-Related Neuroblastoma, SusceptibilityTests Available
KIF1B-Related PheochromocytomaTests Available
KIF21A-Related Congenital Fibrosis of the Extraocular MusclesTests Available
KIF21A-Related Congenital Fibrosis of the Extraocular MusclesTests Available
KIF7-Related Joubert SyndromeTests Available
Kindler SyndromeTests Available
KISS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
KISS1R-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
KIZ-Related Retinitis Pigmentosa
Kleefstra SyndromeTests Available
KLHL40-Related Nemaline MyopathyTests Available
KLHL41-Related Nemaline MyopathyTests Available
KLHL7-Related Retinitis PigmentosaTests Available
Klippel-Feil Syndrome 1Tests Available
Klippel-Feil Syndrome 2Tests Available
Klippel-Feil Syndrome 3Tests Available
Klippel-Feil Syndrome 4Tests Available
Klippel-Trenaunay-Weber SyndromeTests Available
KMT2D-Related Kabuki SyndromeTests Available
Kniest DysplasiaTests Available
Knobloch Syndrome Type ITests Available
Knuckle Pads, Leukonychia and Sensorineural DeafnessTests Available
Kohlschutter-Tonz SyndromeTests Available
Kowarski SyndromeTests Available
Krabbe DiseaseTests Available
Krabbe Disease, Atypical, due to Saposin A DeficiencyTests Available
KRAS-Related Cardiofaciocutaneous SyndromeTests Available
KRAS-Related Noonan SyndromeTests Available
KRT1-Related Epidermolytic HyperkeratosisTests Available
KRT10-Related Epidermolytic HyperkeratosisTests Available
KRT16-Related Pachyonychia CongenitaTests Available
KRT17-Related Pachyonychia CongenitaTests Available
KRT6A-Related Pachyonychia CongenitaTests Available
KRT6B-Related Pachyonychia CongenitaTests Available
Kufor-Rakeb SyndromeTests Available
 

L 

L-2-Hydroxyglutaric AciduriaTests Available
L-Arginine:Glycine Amidinotransferase DeficiencyTests Available
L1 SyndromeTests Available
Lacrimo-Auriculo-Dento-Digital SyndromeTests Available
Lactate Dehydrogenase B DeficiencyTests Available
Lactose Intolerance, Adult TypeTests Available
Laing Distal MyopathyTests Available
LAMA2-Related Muscular DystrophyTests Available
LAMA3-Related Junctional Epidermolysis BullosaTests Available
LAMA4-Related Dilated CardiomyopathyTests Available
LAMB3-Related Junctional Epidermolysis BullosaTests Available
LAMC2-Related Junctional Epidermolysis BullosaTests Available
Langer Mesomelic DwarfismTests Available
LARGE1-Related Muscle DiseasesTests Available
LARGE1-Related Muscle DiseasesTests Available
Larsen SyndromeTests Available
Larsen Syndrome, Autosomal RecessiveTests Available
Laryngoonychocutaneous SyndromeTests Available
Late-Onset Familial Alzheimer DiseaseTests Available
Late-Onset Familial Alzheimer DiseaseTests Available
Late-Onset Retinal DegenerationTests Available
Lateral Facial Dysplasia
Lateral Meningocele SyndromeTests Available
LathosterolosisTests Available
Lattice Corneal Dystrophy Type ITests Available
Lattice Corneal Dystrophy Type IIIaTests Available
LCA5-Related Leber Congenital AmaurosisTests Available
LDB3-Related Dilated CardiomyopathyTests Available
LDLR-Related Familial Hypercholesterolemia, Autosomal DominantTests Available
LDLRAP1-Related Familial Hypercholesterolemia, Autosomal RecessiveTests Available
Leber Congenital AmaurosisTests Available
Leber Hereditary Optic NeuropathyTests Available
Lecithin Cholesterol Acyltransferase DeficiencyTests Available
Left Ventricular NoncompactionTests Available
Left Ventricular Noncompaction 1Tests Available
Left Ventricular Noncompaction 3, with or without Dilated CardiomyopathyTests Available
Left Ventricular Noncompaction 4Tests Available
Left Ventricular Noncompaction 5Tests Available
Left Ventricular Noncompaction 6Tests Available
Left Ventricular Noncompaction 9Tests Available
Left Ventricular Outflow Tract Obstruction (LVOTO)Tests Available
LEFTY2-Related Visceral HeterotaxyTests Available
Legius SyndromeTests Available
Leigh Syndrome (mtDNA deletion)Tests Available
Leigh Syndrome (mtDNA mutation)Tests Available
Leigh Syndrome (nuclear DNA mutation)Tests Available
Leigh Syndrome due to Mitochondrial Complex I DeficiencyTests Available
Leigh Syndrome, French-Canadian TypeTests Available
Leigh-Like Syndrome
Leiomyoma, Uterine, SomaticTests Available
Lenz Microphthalmia SyndromicTests Available
Lenz-Majewski Hyperostotic DwarfismTests Available
LEOPARD SyndromeTests Available
LEPRE1-Related Osteogenesis ImperfectaTests Available
LEPRE1-Related Osteogenesis ImperfectaTests Available
Leptin DeficiencyTests Available
Leptin Receptor DeficiencyTests Available
Leptomeningeal Amyloidosis
Leri-Weill DyschondrosteosisTests Available
Lesch-Nyhan SyndromeTests Available
Lethal Arthrogryposis With Anterior Horn Cell DiseaseTests Available
Lethal Congenital Contracture Syndrome 1Tests Available
Lethal Congenital Contracture Syndrome 2Tests Available
Lethal Congenital Contracture Syndrome 4Tests Available
Lethal Encephalopathy due to Defective Mitochondrial Peroxisomal FissionTests Available
Lethal Restrictive Dermopathy, LMNA-RelatedTests Available
Lethal Restrictive Dermopathy, ZMPSTE24-RelatedTests Available
Leukemia, Acute MyelogenousTests Available
Leukemia, Chronic LymphocyticTests Available
Leukocyte Adhesion Deficiency, Type 1Tests Available
Leukocyte Adhesion Deficiency, Type 3Tests Available
Leukodystrophy, Adult-Onset, Autosomal DominantTests Available
Leukodystrophy, Hypomyelinating 3Tests Available
Leukodystrophy, Hypomyelinating 4Tests Available
Leukodystrophy, Hypomyelinating 6Tests Available
Leukodystrophy, Hypomyelinating 9Tests Available
Leukoencephalopathy with Ataxia due to ClC-2 DeficiencyTests Available
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate ElevationTests Available
Leukoencephalopathy with Dystonia and Motor NeuropathyTests Available
Leukoencephalopathy, Cystic, without MegalencephalyTests Available
Leukoencephalopathy, Progressive, with Ovarian FailureTests Available
Leukoencephalopathy, Progressive, with Ovarian FailureTests Available
Leydig Cell Hypoplasia/AgenesisTests Available
LFNG-Related Spondylocostal Dysostosis, Autosomal RecessiveTests Available
LHX3-Related Combined Pituitary Hormone DeficiencyTests Available
LHX4-Related Combined Pituitary Hormone DeficiencyTests Available
Li-Fraumeni SyndromeTests Available
Li-Fraumeni Syndrome, CHEK2-RelatedTests Available
Liddle Syndrome, SCNN1B-RelatedTests Available
Liddle Syndrome, SCNN1G-RelatedTests Available
LIG4 SyndromeTests Available
Limb-Girdle Muscular Dystrophies, Autosomal DominantTests Available
Limb-Girdle Muscular Dystrophies, Autosomal DominantTests Available
Limb-Girdle Muscular Dystrophies, Autosomal RecessiveTests Available
Limb-Girdle Muscular Dystrophies, Autosomal RecessiveTests Available
Limb-Girdle Muscular DystrophyTests Available
Limb-Girdle Muscular Dystrophy Type 1ATests Available
Limb-Girdle Muscular Dystrophy Type 1BTests Available
Limb-Girdle Muscular Dystrophy Type 1CTests Available
Limb-Girdle Muscular Dystrophy Type 1DTests Available
Limb-Girdle Muscular Dystrophy Type 1ETests Available
Limb-Girdle Muscular Dystrophy Type 1FTests Available
Limb-Girdle Muscular Dystrophy Type 1GTests Available
Limb-Girdle Muscular Dystrophy Type 1HTests Available
Limb-Girdle Muscular Dystrophy Type 2BTests Available
Limb-Girdle Muscular Dystrophy Type 2GTests Available
Limb-Girdle Muscular Dystrophy Type 2HTests Available
Limb-Girdle Muscular Dystrophy Type 2ITests Available
Limb-Girdle Muscular Dystrophy Type 2JTests Available
Limb-Girdle Muscular Dystrophy Type 2KTests Available
Limb-Girdle Muscular Dystrophy Type 2LTests Available
Limb-Girdle Muscular Dystrophy Type 2MTests Available
Limb-Girdle Muscular Dystrophy Type 2NTests Available
Limb-Girdle Muscular Dystrophy Type 2OTests Available
Limb-Girdle Muscular Dystrophy Type 2QTests Available
Limb-Girdle Muscular Dystrophy Type 2STests Available
Limb-Girdle Muscular Dystrophy Type 2WTests Available
Limb-Girdle Muscular Dystrophy Type 2YTests Available
Limb-Mammary SyndromeTests Available
Lipase Deficiency, CombinedTests Available
LIPN-Related Autosomal Recessive Congenital IchthyosisTests Available
Lipoprotein GlomerulopathyTests Available
Lipoyltransferase 1 DeficiencyTests Available
LissencephalyTests Available
Lissencephaly 2Tests Available
Lissencephaly 3Tests Available
Lissencephaly 4Tests Available
Lissencephaly 5Tests Available
Liver Failure, Infantile TransientTests Available
Liver Phosphorylase Kinase DeficiencyTests Available
Liver Phosphorylase Kinase DeficiencyTests Available
LMNA-Related Dilated CardiomyopathyTests Available
LMNA-Related Emery-Dreifuss Muscular Dystrophy, AutosomalTests Available
LMNA-Related Muscle DiseasesTests Available
LMNA-Related Muscle DiseasesTests Available
LMOD3-Related Nemaline MyopathyTests Available
Loeys-Dietz SyndromeTests Available
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyTests Available
Long QT SyndromeTests Available
Long QT SyndromeTests Available
Long QT Syndrome 1Tests Available
Long QT Syndrome 10Tests Available
Long QT Syndrome 11Tests Available
Long QT Syndrome 12Tests Available
Long QT Syndrome 13Tests Available
Long QT Syndrome 14Tests Available
Long QT Syndrome 15Tests Available
Long QT Syndrome 2Tests Available
Long QT Syndrome 3Tests Available
Long QT Syndrome 4Tests Available
Long QT Syndrome 5Tests Available
Long QT Syndrome 6Tests Available
Long QT Syndrome 9Tests Available
Low Gamma-GT Familial Intrahepatic CholestasisTests Available
Lowe SyndromeTests Available
LRAT-Related Leber Congenital AmaurosisTests Available
LRAT-Related Retinitis PigmentosaTests Available
LRBA-Related Common Variable Immune DeficiencyTests Available
LRBA-Related Common Variable Immune Deficiency with AutoimmunityTests Available
LRIG2-Related Urofacial SyndromeTests Available
LRP5-Related Autosomal Dominant OsteopetrosisTests Available
LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal DominantTests Available
LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal RecessiveTests Available
LRP6-Related Coronary Artery Disease SusceptibilityTests Available
LRRK2-Related Parkinson DiseaseTests Available
LTBP2-Related Primary Congenital GlaucomaTests Available
LTBP2-Related Weill-Marchesani SyndromeTests Available
Lujan SyndromeTests Available
Lung CancerTests Available
Lung Cancer, EGFR-RelatedTests Available
Lung Cancer, GSTM1-RelatedTests Available
Lung Cancer, SomaticTests Available
Lymphedema, Hereditary ICTests Available
Lymphedema, Hereditary, IDTests Available
Lymphedema, Primary, with MyelodysplasiaTests Available
Lymphedema-Distichiasis SyndromeTests Available
Lymphoma, B-cellTests Available
Lymphoma, non-HodgkinTests Available
Lymphoproliferative Disease, X-LinkedTests Available
Lymphoproliferative Syndrome 2Tests Available
Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1Tests Available
Lynch SyndromeTests Available
Lysinuric Protein IntoleranceTests Available
Lysosomal Acid Lipase DeficiencyTests Available
LYZ-Related Familial Visceral AmyloidosisTests Available
LZTFL1- Related Bardet-Biedl SyndromeTests Available
LZTR1-Related Noonan SyndromeTests Available
 

M 

Macrocephaly, Alopecia, Cutis Laxa, and ScoliosisTests Available
Macrocephaly/Autism SyndromeTests Available
Macroglobulinemia, Waldenstrom SomaticTests Available
Macrothrombocytopenia, Autosomal Dominant, TUBB1-RelatedTests Available
Macular Corneal Dystrophy 1Tests Available
Macular Dystrophy, Patterned 2
Macular Dystrophy, Retinal, 2Tests Available
MAGT1-CDGTests Available
Mainzer-Saldino SyndromeTests Available
Majeed SyndromeTests Available
MAK-Related Retinitis PigmentosaTests Available
Mal de MeledaTests Available
Male-Limited Precocious PubertyTests Available
Malignant Hyperthermia SusceptibilityTests Available
Malignant Melanoma, SomaticTests Available
Malonyl-CoA Decarboxylase DeficiencyTests Available
Mandibular Hypoplasia, Deafness, Progeroid features, and Lipodystrophy SyndromeTests Available
Mandibuloacral DysplasiaTests Available
Mandibulofacial Dysostosis with MicrocephalyTests Available
Mandibulofacial Dysostosis, Guion-Almeida TypeTests Available
Manitoba Oculotrichoanal SyndromeTests Available
Mannose-Binding Protein DeficiencyTests Available
MAOA-Related Behavior DisordersTests Available
MAP2K1-Related Cardiofaciocutaneous SyndromeTests Available
MAP2K1-Related Noonan SyndromeTests Available
MAP2K2-Related Cardiofaciocutaneous SyndromeTests Available
MAP3K1-Related 46,XY DSD and 46,XY CGDTests Available
Maple Syrup Urine DiseaseTests Available
Maple Syrup Urine Disease Mild VariantTests Available
Maple Syrup Urine Disease Type 1ATests Available
Maple Syrup Urine Disease Type 1BTests Available
Maple Syrup Urine Disease Type 2Tests Available
Maple Syrup Urine Disease Type 3Tests Available
MAPT-Related DisordersTests Available
Marcus Gunn Phenomenon
Marden-Walker SyndromeTests Available
Marfan SyndromeTests Available
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and DissectionsTests Available
Marinesco-Sjogren SyndromeTests Available
Marshall SyndromeTests Available
Marshall-Smith SyndromeTests Available
Martsolf SyndromeTests Available
MASA SyndromeTests Available
MASP2 DeficiencyTests Available
MASS SyndromeTests Available
Mast Cell DiseaseTests Available
Mast SyndromeTests Available
MASTL-Related Thrombocytopenia 2Tests Available
Maternal Uniparental Disomy, Chromosome 14Tests Available
MATN3-Related Multiple Epiphyseal DysplasiaTests Available
Maturity-Onset Diabetes of the YoungTests Available
Maturity-Onset Diabetes of the Young Type 1Tests Available
Maturity-Onset Diabetes of the Young Type 10Tests Available
Maturity-Onset Diabetes of the Young Type 11Tests Available
Maturity-Onset Diabetes of the Young Type 14Tests Available
Maturity-Onset Diabetes of the Young Type 2Tests Available
Maturity-Onset Diabetes of the Young Type 3Tests Available
Maturity-Onset Diabetes of the Young Type 4Tests Available
Maturity-Onset Diabetes of the Young Type 6Tests Available
Maturity-Onset Diabetes of the Young Type 7Tests Available
Maturity-Onset Diabetes of the Young Type 8, with Exocrine DysfunctionTests Available
Maturity-Onset Diabetes of the Young Type 9Tests Available
MAX-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
MAX-Related Susceptibility to PheochromocytomaTests Available
May-Hegglin AnomalyTests Available
Mayer-Rokitansky-Kuster-Hauser Syndrome
MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase DeficiencyTests Available
MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase DeficiencyTests Available
McCune-Albright SyndromeTests Available
MCEE-Related Methylmalonic AcidemiaTests Available
McKusick-Kaufman SyndromeTests Available
McLeod Neuroacanthocytosis SyndromeTests Available
MCT8-Specific Thyroid Hormone Cell-Membrane Transporter DeficiencyTests Available
Meacham SyndromeTests Available
Meckel SyndromeTests Available
Meconium IleusTests Available
MECP2 Duplication SyndromeTests Available
MECP2-Related Angelman-like SyndromeTests Available
MECP2-Related DisordersTests Available
MECP2-Related Severe Neonatal EncephalopathyTests Available
MED12-Related DisordersTests Available
Medium Chain 3-Ketothiolase DeficiencyTests Available
Medium Chain Acyl-Coenzyme A Dehydrogenase DeficiencyTests Available
MEDNIK SyndromeTests Available
Medullary Cystic Kidney Disease 1Tests Available
Medullary Cystic Kidney Disease 2Tests Available
Medulloblastoma, PTCH2-RelatedTests Available
Medulloblastoma, SUFU-RelatedTests Available
MEF2A-Related Coronary Artery Disease SusceptibilityTests Available
Megalencephalic Leukoencephalopathy with Subcortical CystsTests Available
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1Tests Available
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2ATests Available
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2B, Remitting, with or without Mental Retardation
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1Tests Available
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2Tests Available
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3Tests Available
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome, SomaticTests Available
Megaloblastic Anemia 1, Finnish TypeTests Available
Megaloblastic Anemia 1, Norwegian typeTests Available
Megaloblastic Anemia due to Dihydrofolate Reductase DeficiencyTests Available
Megalocornea 1, X-linkedTests Available
Meier-Gorlin SyndromeTests Available
Meier-Gorlin Syndrome 1Tests Available
Meier-Gorlin Syndrome 2Tests Available
Meier-Gorlin Syndrome 3Tests Available
Meier-Gorlin Syndrome 4Tests Available
Meier-Gorlin Syndrome 5Tests Available
Melanoma, Cutaneous Malignant, 6Tests Available
Melanoma, Cutaneous Malignant, 9Tests Available
Melanoma, UvealTests Available
Melanoma-Astrocytoma SyndromeTests Available
Melanoma-Pancreatic Cancer SyndromeTests Available
MELASTests Available
MELASTests Available
MELAS, MT-ND1-RelatedTests Available
MELAS, MT-ND5-RelatedTests Available
MELAS, MT-ND6-RelatedTests Available
MELAS, MT-TF-RelatedTests Available
MELAS, MT-TH-RelatedTests Available
MELAS, MT-TK-RelatedTests Available
MELAS, MT-TL1-RelatedTests Available
MELAS, MT-TQ-RelatedTests Available
MELAS, MT-TS1-RelatedTests Available
MELAS, MT-TS2-RelatedTests Available
Melnick-Needles SyndromeTests Available
Melorheostosis with OsteopoikilosisTests Available
Membranoproliferative Glomerulonephritis
MeningiomaTests Available
Meningioma, Familial SusceptibilityTests Available
Menkes DiseaseTests Available
Mental Retardation and Distinctive Facial Features with or without Cardiac DefectsTests Available
Mental Retardation with Language Impairment and Autistic FeaturesTests Available
Mental Retardation, Autosomal Dominant 1Tests Available
Mental Retardation, Autosomal Dominant 13Tests Available
Mental Retardation, Autosomal Dominant 17Tests Available
Mental Retardation, Autosomal Dominant 18Tests Available
Mental Retardation, Autosomal Dominant 19Tests Available
Mental Retardation, Autosomal Dominant 23Tests Available
Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26Tests Available
Mental Retardation, Autosomal Dominant 27Tests Available
Mental Retardation, Autosomal Dominant 28Tests Available
Mental Retardation, Autosomal Dominant 31Tests Available
Mental Retardation, Autosomal Dominant 32Tests Available
Mental Retardation, Autosomal Dominant 37Tests Available
Mental Retardation, Autosomal Dominant 38Tests Available
Mental Retardation, Autosomal Dominant 5Tests Available
Mental Retardation, Autosomal Dominant 6Tests Available
Mental Retardation, Autosomal Dominant 7Tests Available
Mental Retardation, Autosomal Dominant 8Tests Available
Mental Retardation, Autosomal Dominant 9Tests Available
Mental Retardation, Autosomal Recessive 1Tests Available
Mental Retardation, Autosomal Recessive 12Tests Available
Mental Retardation, Autosomal Recessive 13Tests Available
Mental Retardation, Autosomal Recessive 14Tests Available
Mental Retardation, Autosomal Recessive 15Tests Available
Mental Retardation, Autosomal Recessive 18Tests Available
Mental Retardation, Autosomal Recessive 2Tests Available
Mental Retardation, Autosomal Recessive 27Tests Available
Mental retardation, Autosomal Recessive 3Tests Available
Mental Retardation, Autosomal Recessive 36Tests Available
Mental Retardation, Autosomal Recessive 38Tests Available
Mental Retardation, Autosomal Recessive 39Tests Available
Mental Retardation, Autosomal Recessive 41Tests Available
Mental Retardation, Autosomal Recessive 42Tests Available
Mental Retardation, Autosomal Recessive 46Tests Available
Mental Retardation, Autosomal Recessive 49Tests Available
Mental Retardation, Autosomal Recessive 5Tests Available
Mental Retardation, Autosomal Recessive 6Tests Available
Mental Retardation, NonsyndromicTests Available
Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral MalformationsTests Available
Mental Retardation, Truncal Obesity, Retinal Dystrophy and MicropenisTests Available
Mental Retardation, X-Linked 1Tests Available
Mental Retardation, X-Linked 101Tests Available
Mental Retardation, X-Linked 102Tests Available
Mental Retardation, X-Linked 104Tests Available
Mental Retardation, X-Linked 99Tests Available
Mental Retardation, X-linked, Syndromic 14Tests Available
Mental Retardation, X-Linked, Syndromic 32Tests Available
Mental Retardation, X-linked, Syndromic 32Tests Available
Mental Retardation, X-Linked, Syndromic, Martin-Probst TypeTests Available
Mental Retardation, X-Linked, Syndromic, Nascimento TypeTests Available
Mental Retardation, X-Linked, Syndromic, Raymond TypeTests Available
Mental Retardation, X-Linked, Syndromic, Turner TypeTests Available
Mental Retardation, X-Linked, Syndromic, Wilson-Turner TypeTests Available
Mental Retardation, X-Linked, with Growth Hormone DeficiencyTests Available
Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and TremorTests Available
Mental Retardation-Hypotonic Facies Syndrome, X-LinkedTests Available
Mental Retsrdation, X-Linked Syndromic, Female RestrictedTests Available
Mephenytoin Poor MetabolizerTests Available
MERRFTests Available
MERRF/MELAS Overlap SyndromeTests Available
MERTK-Related Retinitis PigmentosaTests Available
Mesomelic Dysplasia, Nievergelt Type
Mesomelic Dysplasia, Reinhardt-Pfeiffer Type
MESP2-Related Spondylocostal Dysostosis, Autosomal RecessiveTests Available
Metacarpal 4-5 FusionTests Available
MetachondromatosisTests Available
Metachromatic Leukodystrophy due to Saposin B DeficiencyTests Available
Metaphyseal Anadysplasia 1Tests Available
Metaphyseal Anadysplasia 2Tests Available
Metaphyseal Chondrodysplasia, Jansen TypeTests Available
Metaphyseal Chondrodysplasia, Schmid TypeTests Available
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without BrachydactylyTests Available
Metaphyseal Dysplasia without HypotrichosisTests Available
Metatropic DysplasiaTests Available
Methemoglobinemia Due to Deficiency of Methemoglobin ReductaseTests Available
Methylmalonate Semialdehyde Dehydrogenase DeficiencyTests Available
Methylmalonic AcidemiaTests Available
Methylmalonic Acidemia and Homocysteinemia, cblX TypeTests Available
Methylmalonic Aciduria due to Transcobalamin Receptor DefectTests Available
MevalonicaciduriaTests Available
MFAP5-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
MGAT2-CDG (CDG-IIa)Tests Available
MGME1-Related Mitochondrial DNA Depletion SyndromeTests Available
MHC Class II Deficiency, Complementation Group BTests Available
MHS2-Related Malignant Hyperthermia Susceptibility
MHS3-Related Malignant Hyperthermia Susceptibility
MHS4-Related Malignant Hyperthermia Susceptibility
MHS6-Related Malignant Hyperthermia Susceptibility
Microcephalic Osteodysplastic Primordial Dwarfism, Type ITests Available
Microcephalic Osteodysplastic Primordial Dwarfism, Type IITests Available
Microcephaly and Chorioretinopathy, Autosomal Recessive 1Tests Available
Microcephaly and Chorioretinopathy, Autosomal Recessive 2
Microcephaly and Chorioretinopathy, Autosomal Recessive 3
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental RetardationTests Available
Microcephaly with PolymicrogyriaTests Available
Microcephaly, Congenital Cataract and Psoriasiform Dermatitis Tests Available
Microcephaly, Cortical Malformations, and Mental RetardationTests Available
Microcephaly, Epilepsy, and Diabetes SyndromeTests Available
Microcephaly, Postnatal Progressive, with Seizures and Brain AtrophyTests Available
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar AtrophyTests Available
Microcephaly-Capillary Malformation SyndromeTests Available
Microcornea, Myopic Chorioretinal Atrophy and Telecanthus
Microlissencephaly
Microlissencephaly ITests Available
Microlissencephaly II
Microlissencephaly III
Microphthalmia with Coloboma 5Tests Available
Microphthalmia with Coloboma 6, DigenicTests Available
Microphthalmia with Limb AnomaliesTests Available
Microphthalmia with Linear Skin Defects SyndromeTests Available
Microphthalmia, Isolated with Coloboma 10
Microphthalmia, Isolated with Coloboma 7Tests Available
Microphthalmia, Isolated with Coloboma 9Tests Available
Microphthalmia, Syndromic 11Tests Available
Microphthalmia, Syndromic 12Tests Available
Microphthalmia, Syndromic 13Tests Available
Microphthalmia, Syndromic 14Tests Available
Microphthalmia, Syndromic 2Tests Available
Microphthalmia, Syndromic 5Tests Available
Microphthalmia, Syndromic 6Tests Available
Microphthalmia, Syndromic 9Tests Available
Microspherophakia and/or Megalocornea with Ectopia Lentis and with or without Secondary GlaucomaTests Available
Microtia
Microtia, Hearing Impairment, and Cleft PalateTests Available
Microvascular Complications of Diabetes 1, SusceptibilityTests Available
Microvascular Complications of Diabetes 1, SusceptibilityTests Available
Migraine with or without Aura, Susceptibility 13Tests Available
Mild Androgen Insensitivity SyndromeTests Available
Mild Late-Onset Parkinsonism, MAPT-RelatedTests Available
Miller-Dieker SyndromeTests Available
Milroy DiseaseTests Available
Mirror Movements 1Tests Available
Mirror Movements 2Tests Available
Mitchell-Riley SyndromeTests Available
Mitochondrial Carbonic Anhydrase VA DeficiencyTests Available
Mitochondrial CardiomyopathyTests Available
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1Tests Available
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2Tests Available
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3Tests Available
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4Tests Available
Mitochondrial DisordersTests Available
Mitochondrial DNA Deletion SyndromesTests Available
Mitochondrial DNA Deletion SyndromesTests Available
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic FormTests Available
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic FormTests Available
Mitochondrial DNA Depletion Syndrome, Hepatocerebral FormTests Available
Mitochondrial DNA Depletion Syndrome, MNGIE FormTests Available
Mitochondrial DNA Depletion Syndrome, Myopathic FormTests Available
Mitochondrial DNA-Associated Leigh Syndrome and NARPTests Available
Mitochondrial DNA-Associated Leigh Syndrome and NARPTests Available
Mitochondrial Membrane Protein-Associated NeurodegenerationTests Available
Mitochondrial Membrane Protein-Associated NeurodegenerationTests Available
Mitochondrial Myopathy with DiabetesTests Available
Mitochondrial Neurogastrointestinal Encephalopathy DiseaseTests Available
Mitochondrial Phosphate Carrier DeficiencyTests Available
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental DelayTests Available
Mitochondrial Pyruvate Carrier DeficiencyTests Available
Mitochondrial Respiratory Chain Complex I DeficiencyTests Available
Mitochondrial Respiratory Chain Complex I Deficiency (Mitochondrial Genes)Tests Available
Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes)Tests Available
Mitochondrial Respiratory Chain Complex II DeficiencyTests Available
Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-RelatedTests Available
Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-RelatedTests Available
Mitochondrial Respiratory Chain Complex II Deficiency, SDHD-RelatedTests Available
Mitochondrial Respiratory Chain Complex III DeficiencyTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, CYC1-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, LYRM7-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, TTC19-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, UQCC2-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, UQCC3-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ RelatedTests Available
Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ2 RelatedTests Available
Mitochondrial Respiratory Chain Complex III, Cytochrome b SubunitTests Available
Mitochondrial Respiratory Chain Complex IV DeficiencyTests Available
Mitochondrial Respiratory Chain Complex IV Deficiency (Mitochondrial Genes)Tests Available
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes)Tests Available
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes)Tests Available
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 DeficiencyTests Available
Mitral Valve Prolapse 2Tests Available
Miyoshi Distal MyopathyTests Available
Miyoshi Muscular Dystrophy 3Tests Available
MKKS-Related Bardet-Biedl SyndromeTests Available
MKS1-Related Bardet-Biedl SyndromeTests Available
MKS1-Related Meckel SyndromeTests Available
MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical CystsTests Available
MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical CystsTests Available
MLH1-Related Lynch SyndromeTests Available
MLH1-Related Lynch SyndromeTests Available
MLH1-Related Muir-Torre SyndromeTests Available
MLH1-Related Turcot SyndromeTests Available
MLH3-Related Lynch SyndromeTests Available
MMAA-Related Methylmalonic AcidemiaTests Available
MMAB-Related Methylmalonic AcidemiaTests Available
MMADHC-Related Methylmalonic AcidemiaTests Available
Moebius Syndrome
MOGS-CDG (CDG-IIb)Tests Available
Molybdenum Cofactor DeficiencyTests Available
Molybdenum Cofactor Deficiency ATests Available
Molybdenum Cofactor Deficiency CTests Available
MonilethrixTests Available
Monocarboxylate Transporter 1 DeficiencyTests Available
Monogenic Non-Syndromic Obesity, Autosomal RecessiveTests Available
Mononeuropathy of the Median Nerve, MildTests Available
Mosaic Variegated Aneuploidy Syndrome 1Tests Available
Mosaic Variegated Aneuploidy Syndrome 2Tests Available
Mowat-Wilson SyndromeTests Available
Moyamoya Disease 2, Susceptibility toTests Available
Moyamoya Disease 5Tests Available
MPDU1-CDG (CDG-If)Tests Available
MPI-CDG (CDG-Ib)Tests Available
MPV17- Related Hepatocerebral Mitochondrial DNA Depletion SyndromeTests Available
MPV17- Related Hepatocerebral Mitochondrial DNA Depletion SyndromeTests Available
MPZ-Related Intermediate Charcot-Marie-Tooth NeuropathyTests Available
MRPL40-Related DisorderTests Available
MS4A1-Related Common Variable Immune DeficiencyTests Available
MSH2-Related Lynch SyndromeTests Available
MSH2-Related Lynch SyndromeTests Available
MSH2-Related Muir-Torre SyndromeTests Available
MSH2-Related Turcot SyndromeTests Available
MSH6-Related Lynch SyndromeTests Available
MSH6-Related Lynch SyndromeTests Available
MSH6-Related Turcot SyndromeTests Available
MSX2-Related CraniosynostosisTests Available
MT-CO1-Related Hearing Loss and DeafnessTests Available
MT-CYB-Related Recurrent MyoglobinuriaTests Available
MT-RNR1-Related Hearing Loss and DeafnessTests Available
MT-TS1-Related Hearing Loss and DeafnessTests Available
MT-TT Related Parkinson Disease SusceptibilityTests Available
MTHFR DeficiencyTests Available
MTHFR Thermolabile VariantTests Available
MTHFR-Related Altered Drug MetabolismTests Available
Muckle-Wells SyndromeTests Available
Mucociliary Clearance DisorderTests Available
Mucolipidosis ITests Available
Mucolipidosis IITests Available
Mucolipidosis IITests Available
Mucolipidosis III Alpha/BetaTests Available
Mucolipidosis III GammaTests Available
Mucolipidosis IVTests Available
Mucopolysaccharidosis Type ITests Available
Mucopolysaccharidosis Type IITests Available
Mucopolysaccharidosis Type IIIATests Available
Mucopolysaccharidosis Type IIIBTests Available
Mucopolysaccharidosis Type IIICTests Available
Mucopolysaccharidosis Type IIIDTests Available
Mucopolysaccharidosis Type IVATests Available
Mucopolysaccharidosis Type IVBTests Available
Mucopolysaccharidosis Type IXTests Available
Mucopolysaccharidosis Type VITests Available
Mucopolysaccharidosis Type VIITests Available
Muenke SyndromeTests Available
Mulibrey NanismTests Available
Mullerian Aplasia and HyperandrogenismTests Available
Multicentric Carpotarsal Osteolysis SyndromeTests Available
Multicentric Osteolysis of TorgTests Available
Multicentric Osteolysis, Nodulosis, and ArthropathyTests Available
Multiminicore DiseaseTests Available
Multiple Acyl-CoA Dehydrogenase DeficiencyTests Available
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1Tests Available
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2Tests Available
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3Tests Available
Multiple Cutaneous and Mucosal Venous MalformationsTests Available
Multiple Cutaneous and Uterine LeiomyomasTests Available
Multiple Enchondromatosis, Maffucci Type Tests Available
Multiple Endocrine Neoplasia Type 1Tests Available
Multiple Endocrine Neoplasia Type 2Tests Available
Multiple Endocrine Neoplasia Type 2ATests Available
Multiple Endocrine Neoplasia Type 2BTests Available
Multiple Endocrine Neoplasia Type 4Tests Available
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes MellitusTests Available
Multiple Epiphyseal Dysplasia with Myopia and DeafnessTests Available
Multiple Epiphyseal Dysplasia, DominantTests Available
Multiple Epiphyseal Dysplasia, RecessiveTests Available
Multiple Familial Trichoepithelioma 1Tests Available
Multiple Intestinal AtresiaTests Available
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart DefectsTests Available
Multiple Mitochondrial Dysfunctions Syndrome 1Tests Available
Multiple Mitochondrial Dysfunctions Syndrome 2Tests Available
Multiple Mitochondrial Dysfunctions Syndrome 3Tests Available
Multiple Mitochondrial Dysfunctions Syndrome 4Tests Available
Multiple MyelomaTests Available
Multiple Pterygium SyndromeTests Available
Multiple Pterygium Syndrome, Dominant
Multiple Pterygium Syndrome, Lethal TypeTests Available
Multiple Sclerosis
Multiple Self-Healing Squamous EpitheliomaTests Available
Multiple Sulfatase DeficiencyTests Available
Multiple Synostoses Syndrome 1Tests Available
Multiple Synostoses Syndrome 2Tests Available
Multiple Synostoses Syndrome 3Tests Available
Multisystemic Smooth Muscle Dysfunction SyndromeTests Available
Muscle Phosphorylase Kinase DeficiencyTests Available
Muscle Phosphorylase Kinase DeficiencyTests Available
Muscle-Eye-Brain DiseaseTests Available
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C 12Tests Available
MUSK-Related Congenital Myasthenic SyndromeTests Available
MUT-Related Methylmalonic AcidemiaTests Available
MUTYH-Associated PolyposisTests Available
Myasthenia, Limb-Girdle, with Tubular AggregatesTests Available
MYBPC3-Related Dilated CardiomyopathyTests Available
MYBPC3-Related Familial Hypertrophic CardiomyopathyTests Available
Myelodysplastic Syndrome, SomaticTests Available
Myelodysplastic Syndrome, Susceptibility, GATA2-RelatedTests Available
Myelofibrosis, SomaticTests Available
Myeloid and Lymphoid Neoplasm with FGFR1 AbnormalitiesTests Available
Myeloid/Lymphoid or Mixed Lineage LeukemiaTests Available
Myeloproliferative Disorder with EosinophiliaTests Available
MYH11-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
MYH3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2BTests Available
MYH6-Related Dilated CardiomyopathyTests Available
MYH6-Related Familial Hypertrophic CardiomyopathyTests Available
MYH7-Related Congenital Fiber-Type DisproportionTests Available
MYH7-Related Dilated CardiomyopathyTests Available
MYH7-Related Familial Hypertrophic CardiomyopathyTests Available
MYH7-Related Myosin Storage MyopathyTests Available
MYH9-Related DisordersTests Available
Myhre SyndromeTests Available
MYL2-Related Familial Hypertrophic CardiomyopathyTests Available
MYL3-Related Familial Hypertrophic CardiomyopathyTests Available
MYL4-Related Familial Atrial FibrillationTests Available
MYLK-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
Myoadenylate Deaminase DeficiencyTests Available
Myocardial Infarction, Susceptibility to, 1
Myoclonic Epilepsy Myopathy Sensory AtaxiaTests Available
Myoclonic-Atonic EpilepsyTests Available
Myoclonus-DystoniaTests Available
Myofibrillar MyopathyTests Available
Myofibromatosis, Infantile 1Tests Available
Myofibromatosis, Infantile 2Tests Available
Myoglobinuria, Acute Recurrent, Autosomal RecessiveTests Available
Myokymia 1 with or without HypomagnesemiaTests Available
Myopathy with Deficiency of ISCUTests Available
Myopathy with Extrapyramidal SignsTests Available
Myopathy with Postural Muscle Atrophy, X-LinkedTests Available
Myopathy, Distal, with Anterior Tibial onsetTests Available
Myopathy, Early-Onset, Areflexia, Respiratory Distress, and DysphagiaTests Available
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1Tests Available
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2Tests Available
Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-RelatedTests Available
Myopia, Autosomal
Myopia, X-Linked
Myosclerosis, Autosomal RecessiveTests Available
Myostatin-Related Muscle HypertrophyTests Available
MyotilinopathyTests Available
Myotonia CongenitaTests Available
Myotonia Congenita, Autosomal DominantTests Available
Myotonia Congenita, Autosomal RecessiveTests Available
Myotonia, Potassium-AggravatedTests Available
Myotonic Dystrophy Type 1Tests Available
Myotonic Dystrophy Type 2Tests Available
MYOZ2-Related Familial Hypertrophic CardiomyopathyTests Available
MYPN-Related CardiomyopathyTests Available
MYPN-Related Familial Restrictive CardiomyopathyTests Available
Myxoma, IntracardiacTests Available
 

N 

N-Acetylglutamate Synthase DeficiencyTests Available
NAA10-Related Lenz Microphthalmia SyndromeTests Available
Nablus Mask-Like Facial SyndromeTests Available
Naegeli-Franceschetti-Jadassohn SyndromeTests Available
Nager SyndromeTests Available
Nail-Patella SyndromeTests Available
Nance-Horan SyndromeTests Available
Nanophthalmos 2Tests Available
Narcolepsy 1Tests Available
Narcolepsy Risk FactorTests Available
NARPTests Available
NAT2-Related Altered Drug MetabolismTests Available
Native American MyopathyTests Available
Native American MyopathyTests Available
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair DefectTests Available
Navajo NeurohepatopathyTests Available
Naxos DiseaseTests Available
NDP-Related RetinopathiesTests Available
NDP-Related Retinopathy of PrematurityTests Available
NDUFAF5-Related Mitochondrial Complex 1 DeficiencyTests Available
NEB-Related Nemaline MyopathyTests Available
NEFH-Related Amyotrophic Lateral Sclerosis, SusceptibilityTests Available
NEK-Related Retinitis Pigmentosa
Nemaline MyopathyTests Available
Neonatal AdrenoleukodystrophyTests Available
Neonatal DiabetesTests Available
Neonatal Intrahepatic Cholestasis Caused by Citrin DeficiencyTests Available
Neonatal Progeroid SyndromeTests Available
Neonatal Severe Primary HyperparathyroidismTests Available
Nephrogenic Diabetes InsipidusTests Available
Nephrogenic Diabetes Insipidus, AutosomalTests Available
Nephrogenic Diabetes Insipidus, X-LinkedTests Available
Nephrogenic Syndrome of Inappropriate AntidiuresisTests Available
Nephrolithiasis Type ITests Available
Nephrolithiasis, Calcium OxalateTests Available
NephronophthisisTests Available
Nephronophthisis 1Tests Available
Nephronophthisis 11Tests Available
Nephronophthisis 12Tests Available
Nephronophthisis 13Tests Available
Nephronophthisis 14Tests Available
Nephronophthisis 15Tests Available
Nephronophthisis 16Tests Available
Nephronophthisis 18Tests Available
Nephronophthisis 19Tests Available
Nephronophthisis 2Tests Available
Nephronophthisis 3Tests Available
Nephronophthisis 4Tests Available
Nephronophthisis 7Tests Available
Nephronophthisis 8Tests Available
Nephronophthisis 9Tests Available
Nephronophthisis-Like Nephropathy 1Tests Available
Nephropathic CystinosisTests Available
Nephropathy due to CFHR5 deficiencyTests Available
Nephropathy with Pretibial Epidermolysis Bullosa and DeafnessTests Available
Nephrotic Syndrome Type 10Tests Available
Nephrotic Syndrome Type 11Tests Available
Nephrotic Syndrome Type 12Tests Available
Nephrotic Syndrome Type 13Tests Available
Nephrotic Syndrome Type 3Tests Available
Nephrotic Syndrome Type 6Tests Available
Nephrotic Syndrome Type 7Tests Available
Nephrotic Syndrome Type 8Tests Available
Nephrotic Syndrome Type 9Tests Available
Nephrotic Syndrome, KANK4-RelatedTests Available
Nephrotic Syndrome, Type 5, with or without Ocular AbnormalitiesTests Available
Nestor-Guillermo Progeria SyndromeTests Available
Netherton SyndromeTests Available
Neu-Laxova Syndrome 1Tests Available
Neu-Laxova Syndrome 1Tests Available
Neu-Laxova Syndrome 2Tests Available
Neural Tube DefectTests Available
NeuroblastomaTests Available
Neuroblastoma, SusceptibilityTests Available
Neurodegeneration due to Cerebral Folate Transport DeficiencyTests Available
Neurodegeneration with Brain Iron AccumulationTests Available
NeuroferritinopathyTests Available
Neurofibromatosis 1Tests Available
Neurofibromatosis 2Tests Available
Neurofibromatosis-Noonan SyndromeTests Available
Neurogenic Scapuloperoneal Syndrome , Kaeser TypeTests Available
Neurohypophyseal Diabetes InsipidusTests Available
Neuromyotonia and Axonal Neuropathy, Autosomal RecessiveTests Available
Neuronal Ceroid-LipofuscinosesTests Available
Neutral Lipid Storage Disease with MyopathyTests Available
Neutropenia, Alloimmune NeonatalTests Available
Neutrophil Immunodeficiency SyndromeTests Available
Neutrophilia, HereditaryTests Available
Nevi Flammei
Nevo SyndromeTests Available
Nevoid Basal Cell Carcinoma SyndromeTests Available
Newfoundland Rod-Cone DystrophyTests Available
NEXN-Related Dilated CardiomyopathyTests Available
NEXN-Related Familial Hypertrophic CardiomyopathyTests Available
NFKB2-Related Common Variable Immune DeficiencyTests Available
NGLY1-CDG (CDG-Iv)Tests Available
NHLRC1-Related Lafora DiseaseTests Available
NHP2-Related Dyskeratosis CongenitaTests Available
Nicolaides-Baraitser SyndromeTests Available
Niemann-Pick Disease Type ATests Available
Niemann-Pick Disease Type BTests Available
Niemann-Pick Disease Type CTests Available
Niemann-Pick Disease Type C1Tests Available
Niemann-Pick Disease Type C2Tests Available
Nijmegen Breakage SyndromeTests Available
Nijmegen Breakage Syndrome-like DisorderTests Available
NIPAL4-Related Autosomal Recessive Congenital IchthyosisTests Available
NIPBL-Related Cornelia de Lange SyndromeTests Available
NKX2-1-Related DisordersTests Available
NLGN4X-Related X-Linked Mental RetardationTests Available
NMNAT1-Related Leber Congenital AmaurosisTests Available
Nocturnal Frontal Lobe Epilepsy, Autosomal DominantTests Available
NODAL-Related HoloprosencephalyTests Available
NODAL-Related Visceral HeterotaxyTests Available
Non-Nephropathic Cystinosis
Nonepidermolytic Palmoplantar HyperkeratosisTests Available
Nonimmune Chronic Idiopathic Neutropenia of AdultsTests Available
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase DeficiencyTests Available
Nonsyndromic Hearing Loss and DeafnessTests Available
Nonsyndromic Hearing Loss and DeafnessTests Available
Nonsyndromic Hearing Loss and Deafness, Autosomal DominantTests Available
Nonsyndromic Hearing Loss and Deafness, Autosomal DominantTests Available
Nonsyndromic Hearing Loss and Deafness, Autosomal RecessiveTests Available
Nonsyndromic Hearing Loss and Deafness, Autosomal RecessiveTests Available
Nonsyndromic Hearing Loss and Deafness, MitochondrialTests Available
Nonsyndromic Hearing Loss and Deafness, MitochondrialTests Available
Nonsyndromic Hearing Loss and Deafness, X-LinkedTests Available
Nonsyndromic Hearing Loss and Deafness, X-LinkedTests Available
Nonsyndromic Hydrocephalus, CCDC88C-RelatedTests Available
Nonsyndromic Hydrocephalus, MPDZ-RelatedTests Available
Noonan SyndromeTests Available
Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic LeukemiaTests Available
Noonan-Like Syndrome with Loose Anagen HairTests Available
NOP10-Related Dyskeratosis CongenitaTests Available
Normokalemic Periodic Paralysis, Potassium-SensitiveTests Available
Norrie DiseaseTests Available
North American Indian Childhood CirrhosisTests Available
NOTCH2-Related Alagille SyndromeTests Available
NPHP1-Related Joubert SyndromeTests Available
NPHP3-Related Meckel SyndromeTests Available
NPM1-Related Acute Myeloid LeukemiaTests Available
NPPA-Related Familial Atrial Fibrillation 6Tests Available
NR0B1-Related 46,XY DSD and 46,XY CGDTests Available
NR2E3-Related Retinitis PigmentosaTests Available
NR5A1-Related 46,XY DSD and 46,XY CGDTests Available
NRAS-Related Noonan SyndromeTests Available
NRL-Related Retinitis PigmentosaTests Available
NRTN-Related Hirschsprung DiseaseTests Available
NSDHL-Related DisordersTests Available
NSMF-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
NTRK1-Related Familial Medullary Thyroid CarcinomaTests Available
NYX-Related X-Linked Congenital Stationary Night BlindnessTests Available
 

O 

ObesityTests Available
Obesity Susceptibility, ADRB2-RelatedTests Available
Obesity Susceptibility, ADRB3-RelatedTests Available
Obesity Susceptibility, AGRP-RelatedTests Available
Obesity Susceptibility, CARTPT-RelatedTests Available
Obesity Susceptibility, ENPP1-RelatedTests Available
Obesity Susceptibility, GHRL-RelatedTests Available
Obesity Susceptibility, MC3R-RelatedTests Available
Obesity Susceptibility, POMC-RelatedTests Available
Obesity Susceptibility, UCP1-Related
Obesity, MC4R-RelatedTests Available
Obesity, NR0B2-RelatedTests Available
Obesity, PPARG-RelatedTests Available
Obesity, PPARGC1B-RelatedTests Available
Obesity, PYY-RelatedTests Available
Obesity, SIM1-RelatedTests Available
Obesity, UCP3-RelatedTests Available
Occipital Horn SyndromeTests Available
Occult Macular DystrophyTests Available
Ocular Albinism, X-LinkedTests Available
Oculo-auriculo-vertebral Spectrum
Oculoauricular Syndrome
Oculocutaneous Albinism Type 1Tests Available
Oculocutaneous Albinism Type 1ATests Available
Oculocutaneous Albinism Type 1BTests Available
Oculocutaneous Albinism Type 2Tests Available
Oculocutaneous Albinism Type 2, ModifierTests Available
Oculocutaneous Albinism Type 3Tests Available
Oculocutaneous Albinism Type 4Tests Available
Oculocutaneous Albinism Type 6Tests Available
Oculocutaneous Albinism Type 6Tests Available
Oculocutaneous Albinism Type 7Tests Available
Oculodentodigital DysplasiaTests Available
Oculopharyngeal Muscular DystrophyTests Available
Odontoonychodermal DysplasiaTests Available
OEIS Complex
OFD1-Related Joubert SyndromeTests Available
OFD1-Related Retinitis PigmentosaTests Available
OFD1-Related Retinitis PigmentosaTests Available
OFD1-Related Simpson-Golabi-Behmel Syndrome Type 2Tests Available
Ogden SyndromeTests Available
Oguchi Disease 1Tests Available
Oguchi Disease 2Tests Available
Oligodontia-Colorectal Cancer SyndromeTests Available
Olmsted Syndrome, X-linkedTests Available
Omenn SyndromeTests Available
Omodysplasia 1Tests Available
Oocyte Maturation DefectTests Available
Opitz G/BBB Syndrome, Autosomal DominantTests Available
Opitz G/BBB Syndrome, X-LinkedTests Available
Opitz GBBB Syndrome Type 2Tests Available
OPRM1-Related Altered Drug MetabolismTests Available
OpsismodysplasiaTests Available
OpsismodysplasiaTests Available
Optic Atrophy 10 with or without Ataxia, Mental Retardation and Seizures
Optic Atrophy Type 1Tests Available
Optic Atrophy Type 1 and DeafnessTests Available
Optic Atrophy Type 3Tests Available
Optic Atrophy Type 7Tests Available
Optic Atrophy Type 9Tests Available
Optic Nerve HypoplasiaTests Available
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous SystemTests Available
OPTN-Related Amyotrophic Lateral SclerosisTests Available
Oral-Facial-Digital Syndrome Type ITests Available
Oral-Facial-Digital Syndrome Type IVTests Available
Oral-Facial-Digital Syndrome Type VITests Available
Organic AcidemiasTests Available
Ornithine Aminotransferase DeficiencyTests Available
Ornithine Transcarbamylase DeficiencyTests Available
Orofacial Cleft 10Tests Available
Orofacial Cleft 11Tests Available
Orofacial Cleft 5Tests Available
Orofacial Cleft 6, Susceptibility toTests Available
Orofacial Cleft 8Tests Available
Orotic AciduriaTests Available
Orthostatic IntoleranceTests Available
Osseus Heteroplasia, ProgressiveTests Available
Osteoarthritis with Mild ChondrodysplasiaTests Available
Osteochondritis Dissecans, Short Stature, and Early-Onset OsteoarthritisTests Available
Osteogenesis ImperfectaTests Available
Osteogenesis Imperfecta Type IXTests Available
Osteogenesis Imperfecta Type VTests Available
Osteogenesis Imperfecta Type VITests Available
Osteogenesis Imperfecta Type VIITests Available
Osteogenesis Imperfecta Type VIIITests Available
Osteogenesis Imperfecta Type XTests Available
Osteogenesis Imperfecta Type XITests Available
Osteogenesis Imperfecta Type XIITests Available
Osteogenesis Imperfecta Type XIIITests Available
Osteogenesis Imperfecta Type XIVTests Available
Osteogenesis Imperfecta Type XVTests Available
Osteogenesis Imperfecta Type XVITests Available
Osteoglophonic DysplasiaTests Available
Osteolysis, Familial ExpansileTests Available
Osteopathia Striata with Cranial SclerosisTests Available
Osteopetrosis with Renal Tubular AcidosisTests Available
OsteoporosisTests Available
Osteoporosis Pseudoglioma SyndromeTests Available
OSTM1-Related Autosomal Recessive OsteopetrosisTests Available
Otodental DysplasiaTests Available
OTOF-Related DeafnessTests Available
Otofaciocervical SyndromeTests Available
Otomandibular Dysostosis
Otopalatodigital Spectrum DisordersTests Available
Otopalatodigital Spectrum DisordersTests Available
Otopalatodigital Syndrome, Type ITests Available
Otopalatodigital Syndrome, Type IITests Available
Otosclerosis
Otospondylomegaepiphyseal DysplasiaTests Available
OTX2-Related Combined Pituitary Hormone DeficiencyTests Available
Ovalocytosis, Southeast AsianTests Available
Ovarian Cancer, SomaticTests Available
Ovarian Dysgenesis 1Tests Available
Ovarian Dysgenesis 2Tests Available
Ovarian Dysgenesis 3Tests Available
Ovarian Hyperstimulation SyndromeTests Available
 

P 

Pachygyria
Pachyonychia CongenitaTests Available
Pacman Dysplasia
PAFAH1B1-Associated Lissencephaly/Subcortical Band HeterotopiaTests Available
Paget Disease of BoneTests Available
Paget Disease of Bone 2, Early-OnsetTests Available
Paget Disease of Bone 3Tests Available
Paget Disease of Bone 4
Paget Disease of Bone 5, JuvenileTests Available
Paget Disease of Bone 6Tests Available
PALB2-Related Cancer SusceptibilityTests Available
PALB2-Related Fanconi AnemiaTests Available
Pallister-Hall SyndromeTests Available
Pallister-Killian SyndromeTests Available
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex ReversalTests Available
Palmoplantar Keratoderma and Woolly HairTests Available
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic PlaquesTests Available
Palmoplantar Keratoderma, Nonepidermolytic, Focal or DiffuseTests Available
Palmoplantar Keratoderma, Punctate Type IATests Available
Pancreatic Agenesis 1Tests Available
Pancreatic Agenesis 2Tests Available
Pancreatic Agenesis and Congenital Heart DefectsTests Available
Pancreatic CancerTests Available
Pancreatic Cancer Susceptibility 1Tests Available
Pancreatic Cancer Susceptibility 2Tests Available
Pancreatic Cancer Susceptibility 3Tests Available
Pancreatic Cancer Susceptibility 4Tests Available
Pancreatic Cancer, SomaticTests Available
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal FistulaTests Available
Pancreatic Lipase DeficiencyTests Available
Pancreatitis, Chronic, Protection AgainstTests Available
Panhypopituitarism, X-linkedTests Available
Pantothenate Kinase-Associated NeurodegenerationTests Available
Pantothenate Kinase-Associated NeurodegenerationTests Available
Papillary Renal CarcinomaTests Available
Papillon-Lefevre SyndromeTests Available
Paramyotonia Congenita of Von EulenburgTests Available
Parastremmatic DwarfismTests Available
Parietal Foramina 1Tests Available
Parietal Foramina 2Tests Available
PARK7-Related Parkinson DiseaseTests Available
Parkes Weber Syndrome, RASA1-RelatedTests Available
Parkin Type of Early-Onset Parkinson DiseaseTests Available
Parkinson DiseaseTests Available
Parkinson Disease SusceptibilityTests Available
Parkinsonism-Dystonia, InfantileTests Available
PARN-Related Dyskeratosis CongenitaTests Available
Paroxysmal Extreme Pain DisorderTests Available
Paroxysmal Familial Ventricular Fibrillation 1Tests Available
Paroxysmal Nocturnal Hemoglobinuria 1Tests Available
Partial Adenosine Deaminase Deficiency
Partial Androgen Insensitivity SyndromeTests Available
Partial Isolated Growth Hormone DeficiencyTests Available
Partington X-Linked Mental Retardation SyndromeTests Available
Paternal Uniparental Disomy, Chromosome 14Tests Available
Patterned Dystrophy of Retinal Pigment EpitheliumTests Available
PAX6-Related AnophthalmiaTests Available
PCCA-Related Propionic AcidemiaTests Available
PCCB-Related Propionic AcidemiaTests Available
PCSK9-Related Familial Hypercholesterolemia, Autosomal DominantTests Available
PDE6A-Related Retinitis PigmentosaTests Available
PDE6B-Related Retinitis PigmentosaTests Available
PDE6D-Related Joubert SyndromeTests Available
PDE6G-Related Retinitis PigmentosaTests Available
PDSS1-Related Coenzyme Q10 DeficiencyTests Available
PDSS2-Related Coenzyme Q10 DeficiencyTests Available
PDX1-Related Permanent Neonatal Diabetes MellitusTests Available
Pearson SyndromeTests Available
Peeling Skin SyndromeTests Available
Peeling Skin Syndrome 3Tests Available
Peeling Skin Syndrome, Acral TypeTests Available
Pelger-Huet AnomalyTests Available
Pelizaeus-Merzbacher DiseaseTests Available
Pelizaeus-Merzbacher-Like Disease 1Tests Available
Pendred Syndrome/DFNB4Tests Available
Pendred Syndrome/DFNB4Tests Available
PentosuriaTests Available
Perinatally Lethal Osteogenesis ImperfectaTests Available
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung DiseaseTests Available
Periventricular Heterotopia, Autosomal RecessiveTests Available
Periventricular Heterotopia, Ehlers-Danlos VariantTests Available
Periventricular Heterotopia, X-LinkedTests Available
Periventricular Nodular HeterotopiaTests Available
Periventricular Nodular Heterotopia 6Tests Available
Perlman SyndromeTests Available
Permanent Neonatal Diabetes MellitusTests Available
Peroxisomal Bifunctional Enzyme DeficiencyTests Available
Peroxisome Biogenesis Disorder 14BTests Available
Peroxisome Biogenesis Disorder 1B (NALD/IRD)Tests Available
Peroxisome Biogenesis Disorders (PBD)Tests Available
Perrault Syndrome 1Tests Available
Perrault Syndrome 2Tests Available
Perrault Syndrome 3Tests Available
Perrault Syndrome 4Tests Available
Perrault Syndrome 5Tests Available
Perry SyndromeTests Available
Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous, Autosomal RecessiveTests Available
Persistent Mullerian Duct Syndrome Type IITests Available
Persistent Mullerian Duct Syndrome, Type ITests Available
Pervasive Developmental Disorder Not Otherwise SpecifiedTests Available
Peters AnomalyTests Available
Peters Plus SyndromeTests Available
Peutz-Jeghers SyndromeTests Available
PEX7-Related Refsum DiseaseTests Available
Pfeiffer Syndrome Type 1Tests Available
Pfeiffer Syndrome Type 1, 2 and 3Tests Available
PFN1-Related Amyotrophic Lateral SclerosisTests Available
PGM1-CDGTests Available
Phelan-McDermid SyndromeTests Available
Phenylalanine Hydroxylase DeficiencyTests Available
PhenylketonuriaTests Available
PHKA1-Related Phosphorylase Kinase DeficiencyTests Available
PHKA2-Related Phosphorylase Kinase DeficiencyTests Available
PHKA2-Related Phosphorylase Kinase DeficiencyTests Available
PHKB-Related Phosphorylase Kinase DeficiencyTests Available
PHKG2-Related Phosphorylase Kinase DeficiencyTests Available
Phosphoenolpyruvate Carboxykinase DeficiencyTests Available
Phosphoenolpyruvate Carboxykinase-1 Deficiency, CytosolicTests Available
Phosphoglycerate Dehydrogenase DeficiencyTests Available
Phosphoglycerate Kinase 1 DeficiencyTests Available
Phospholipase A2, Group IV A, Deficiency ofTests Available
Phosphoribosylpyrophosphate Synthetase SuperactivityTests Available
Phosphorylase Kinase DeficiencyTests Available
Phosphoserine Aminotransferase DeficiencyTests Available
Phosphoserine Phosphatase DeficiencyTests Available
PHOX2A-Related Congenital Fibrosis of the Extraocular MusclesTests Available
PHOX2A-Related Congenital Fibrosis of the Extraocular MusclesTests Available
PHOX2B-Related Neuroblastoma, SusceptibilityTests Available
PHYH-Related Refsum DiseaseTests Available
Pick DiseaseTests Available
Piebald Trait, KIT-RelatedTests Available
Piebald Trait, SNAI2-RelatedTests Available
Pierson SyndromeTests Available
PIGA-Related Simpson-Golabi-Behmel Syndrome Type 2Tests Available
Pigmented Nodular Adrenocortical Disease, Primary, 1Tests Available
Pigmented Nodular Adrenocortical Disease, Primary, 2Tests Available
Pigmented Nodular Adrenocortical Disease, Primary, 3Tests Available
Pigmented Paravenous Chorioretinal AtrophyTests Available
PIK3CA-Related Fibroadipose HyperplasiaTests Available
PIK3CA-Related Segmental OvergrowthTests Available
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic AbnormalitiesTests Available
PINK1 Type of Young-Onset Parkinson DiseaseTests Available
Pitt-Hopkins SyndromeTests Available
Pitt-Hopkins-Like Syndrome 1Tests Available
Pitt-Hopkins-Like Syndrome 2Tests Available
Pitt-Rogers-Danks Syndrome
Pituitary Dwarfism IITests Available
PITX1-Related Congenital ClubfootTests Available
PITX3-Related Anterior Segment Mesenchymal DysgenesisTests Available
Pityriasis Rubra PilarisTests Available
PKP1-Related Ectodermal Dysplasia/Skin Fragility SyndromeTests Available
PLA2G6-Associated NeurodegenerationTests Available
PLA2G6-Associated NeurodegenerationTests Available
PLA2G6-Related Dystonia-ParkinsonismTests Available
PLA2G6-Related Parkinson DiseaseTests Available
Plasminogen Activator Inhibitor-1 DeficiencyTests Available
Plasminogen Deficiency Type 1Tests Available
Platelet Glycoprotein IV DeficiencyTests Available
Platyspondylic Lethal Skeletal Dysplasia, Torrance TypeTests Available
PLEC-Related Epidermolysis Bullosa with Pyloric AtresiaTests Available
PLEKHG5-Related Intermediate Charcot-Marie-Tooth Neuropathy CTests Available
PLEKHM1-Related Autosomal Recessive OsteopetrosisTests Available
Pleuropulmonary BlastomaTests Available
PLN-Related Dilated CardiomyopathyTests Available
PLN-Related Familial Hypertrophic CardiomyopathyTests Available
PLP1-Related DisordersTests Available
PMM2-CDG (CDG-Ia)Tests Available
PMS1-Related Lynch SyndromeTests Available
PMS2-Related Lynch SyndromeTests Available
PMS2-Related Lynch SyndromeTests Available
PMS2-Related Turcot SyndromeTests Available
PNPLA1-Related Autosomal Recessive Congenital IchthyosisTests Available
PNPLA3-Related Susceptibility to Nonalchoholic Fatty Liver DiseaseTests Available
Poikiloderma with NeutropeniaTests Available
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy and Pulmonary FibrosisTests Available
Pol III-Related LeukodystrophiesTests Available
POLG-Related Ataxia Neuropathy Spectrum DisordersTests Available
POLG-Related DisordersTests Available
POLG-Related Mitochondrial DNA Depletion Syndrome, MNGIE FormTests Available
POLH-Related Xeroderma PigmentosumTests Available
POLR1C-Related Treacher Collins SyndromeTests Available
POLR1D-Related Treacher Collins SyndromeTests Available
Polyarteritis Nodosa with Childhood-OnsetTests Available
Polycyctic Kidney Disease 3Tests Available
Polycystic Kidney Disease 1, Autosomal DominantTests Available
Polycystic Kidney Disease 2, Autosomal DominantTests Available
Polycystic Kidney Disease, Autosomal DominantTests Available
Polycystic Kidney Disease, Autosomal RecessiveTests Available
Polycystic Lipomembranous Osteodysplasia with Sclerosing LeukoencephalopathyTests Available
Polycystic Liver DiseaseTests Available
Polycythemia VeraTests Available
Polyglucosan Body Myopathy 1 with or without ImmunodeficiencyTests Available
PolymicrogyriaTests Available
Polymicrogyria with Optic Nerve HypoplasiaTests Available
Polymicrogyria with SeizuresTests Available
Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and ArthrogryposisTests Available
Polymicrogyria, Symmetric or AsymmetricTests Available
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractTests Available
POMGNT1-Related Muscle DiseasesTests Available
POMGNT1-Related Muscle DiseasesTests Available
POMT1-Related Muscle DiseasesTests Available
POMT1-Related Muscle DiseasesTests Available
POMT2-Related Muscle DiseasesTests Available
POMT2-Related Muscle DiseasesTests Available
Pontine Tegmental Cap Dysplasia
Pontocerebellar HypoplasiaTests Available
Pontocerebellar Hypoplasia Type 10Tests Available
Pontocerebellar Hypoplasia Type 1ATests Available
Pontocerebellar Hypoplasia Type 1BTests Available
Pontocerebellar Hypoplasia Type 1CTests Available
Pontocerebellar Hypoplasia Type 2Tests Available
Pontocerebellar Hypoplasia Type 2DTests Available
Pontocerebellar Hypoplasia Type 2ETests Available
Pontocerebellar Hypoplasia Type 3Tests Available
Pontocerebellar Hypoplasia Type 4Tests Available
Pontocerebellar Hypoplasia Type 5Tests Available
Pontocerebellar Hypoplasia Type 6Tests Available
Pontocerebellar Hypoplasia Type 8Tests Available
Pontocerebellar Hypoplasia Type 9Tests Available
Popliteal Pterygium SyndromeTests Available
Popliteal Pterygium Syndrome, Lethal TypeTests Available
Porencephaly 2Tests Available
Poretti-Boltshauser SyndromeTests Available
Porokeratosis 3, Multiple TypesTests Available
Porphyria Cutanea Tarda, Type IITests Available
Postaxial Acrofacial DysostosisTests Available
Postaxial Polydactyly Type ATests Available
Posterior Column Ataxia with Retinitis PigmentosaTests Available
Posterior Polar Cataract 2Tests Available
POT1-Related Susceptibility to Cutaneous Malignant MelanomaTests Available
Potocki-Lupski SyndromeTests Available
Potocki-Shaffer SyndromeTests Available
POU1F1-Related Combined Pituitary Hormone DeficiencyTests Available
PPIB-Related Osteogenesis ImperfectaTests Available
PPIB-Related Osteogenesis ImperfectaTests Available
PPM-X Syndrome
Prader-Willi SyndromeTests Available
Prader-Willi-Like SyndromeTests Available
Prader-Willi-Like Syndrome Associated with Chromosome 6Tests Available
PRCD-Related Retinitis PigmentosaTests Available
PRDM16-Related Dilated CardiomyopathyTests Available
Preaxial Polydactyly Type IVTests Available
Preeclampsia/Eclampsia 5Tests Available
Pregnancy Loss, Recurrent, Susceptibility 3Tests Available
Premature Ovarian Failure 10Tests Available
Premature Ovarian Failure 2ATests Available
Premature Ovarian Failure 2B
Premature Ovarian Failure 3Tests Available
Premature Ovarian Failure 5Tests Available
Premature Ovarian Failure 6Tests Available
Premature Ovarian Failure 7Tests Available
Premature Ovarian Failure 9Tests Available
PRICKLE1-Related Progressive Myoclonus Epilepsy with AtaxiaTests Available
Primary Aldosteronism, Seizures and Neurologic AbnormalitiesTests Available
Primary Autosomal Recessive MicrocephalyTests Available
Primary Autosomal Recessive Microcephaly Type 1Tests Available
Primary Autosomal Recessive Microcephaly Type 11Tests Available
Primary Autosomal Recessive Microcephaly Type 12Tests Available
Primary Autosomal Recessive Microcephaly Type 2Tests Available
Primary Autosomal Recessive Microcephaly Type 3Tests Available
Primary Autosomal Recessive Microcephaly Type 4Tests Available
Primary Autosomal Recessive Microcephaly Type 5Tests Available
Primary Autosomal Recessive Microcephaly Type 6Tests Available
Primary Autosomal Recessive Microcephaly Type 7Tests Available
Primary Autosomal Recessive Microcephaly Type 8Tests Available
Primary Autosomal Recessive Microcephaly Type 9Tests Available
Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 2: DNAAF3-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 4Tests Available
Primary Ciliary Dyskinesia 5: HYDIN-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 6: NME8-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia 8Tests Available
Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia12: RSPH9-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia13: DNAAF1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia14: CCDC39-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia15: CCDC40-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia17: CCDC103-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia18: DNAAF5-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia19: LRRC6-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia20: CCDC114-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia21: DRC1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia22: ZMYND10-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia23: ARMC4-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia24: RSPH1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia25: DNAAF4-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia26: C21ORF59-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia27: CCDC65-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia28: SPAG1-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia29: CCNO-Related Primary Ciliary DyskinesiaTests Available
Primary Ciliary Dyskinesia30: CCDC151-Related Primary Ciliary DyskinesiaTests Available
Primary Congenital GlaucomaTests Available
Primary Failure of Tooth EruptionTests Available
Primary Familial Brain CalcificationTests Available
Primary Familial Brain Calcification 1Tests Available
Primary Familial Brain Calcification 2
Primary Familial Brain Calcification 3Tests Available
Primary Familial Brain Calcification 4Tests Available
Primary Familial Brain Calcification 5Tests Available
Primary HypomagnesemiaTests Available
Primary MicrocephalyTests Available
Primary Open Angle Glaucoma (Adult Onset)Tests Available
Primary Pulmonary Hypertension 2Tests Available
Primary Pulmonary Hypertension 3Tests Available
Primary Pulmonary Hypertension 4Tests Available
PRKCD-Related Autoimmune Lymphoproliferative SyndromeTests Available
PRKG1-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
Progeroid LaminopathiesTests Available
Progressive Encephalopathy with or without LipodystrophyTests Available
Progressive External OphthalmoplegiaTests Available
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2Tests Available
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3Tests Available
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4Tests Available
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5Tests Available
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 6Tests Available
Progressive Familial Heart Block, Type IATests Available
Progressive Familial Heart Block, Type IBTests Available
Progressive Familial Intrahepatic Cholestasis 3Tests Available
Progressive Familial Intrahepatic Cholestasis, Type 1Tests Available
Progressive Familial Intrahepatic Cholestasis, Type 2Tests Available
Progressive Myoclonic Epilepsy 3 with or without Intracellular InclusionsTests Available
Progressive Myoclonic Epilepsy 4 with or without Renal FailureTests Available
Progressive Myoclonic Epilepsy 5Tests Available
Progressive Myoclonic Epilepsy 6Tests Available
Progressive Myoclonus Epilepsy, Lafora TypeTests Available
Progressive Pseudorheumatoid Arthropathy of ChildhoodTests Available
Progressive Supranuclear Palsy, MAPT-RelatedTests Available
Progressively Deforming Osteogenesis ImperfectaTests Available
Proguanil Poor MetabolizerTests Available
PROK2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Prolidase DeficiencyTests Available
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly SyndromeTests Available
PROM1-Related Retinitis PigmentosaTests Available
Proopiomelanocortin DeficiencyTests Available
Proopiomelanocortin DeficiencyTests Available
PROP1-Related Combined Pituitary Hormone DeficiencyTests Available
Properdin Deficiency, X-LinkedTests Available
Propionic AcidemiaTests Available
Proprotein Convertase-1 DeficiencyTests Available
Prostate CancerTests Available
Prostate Cancer SusceptibilityTests Available
Protein C DeficiencyTests Available
Protein S DeficiencyTests Available
Proteinuria, Low Molecular Weight, with Hypercalciuric NephrocalcinosisTests Available
Proteus SyndromeTests Available
Proteus-like SyndromeTests Available
Prothrombin DeficiencyTests Available
Prothrombin-Related ThrombophiliaTests Available
Proximal Renal Tubular Acidosis with Ocular AbnormalitiesTests Available
Proximal SymphalangismTests Available
PRPF3-Related Retinitis PigmentosaTests Available
PRPF31-Related Retinitis PigmentosaTests Available
PRPF4-Related Retinitis Pigmentosa
PRPF6-Related Retinitis PigmentosaTests Available
PRPF8-Related Retinitis PigmentosaTests Available
PRPH2-Related Adult-Onset Vitelliform Macular DystrophyTests Available
PRPH2-Related Fundus AlbipunctatusTests Available
PRPH2-Related Retinitis PigmentosaTests Available
PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5Tests Available
PRPS1-Related DisordersTests Available
PRSS1-Related Hereditary PancreatitisTests Available
PSEN1-Related Dilated CardiomyopathyTests Available
PSEN2-Related Dilated CardiomyopathyTests Available
Pseudo-von Willebrand DiseaseTests Available
PseudoachondroplasiaTests Available
Pseudohypoaldosteronism Type 1, DominantTests Available
Pseudohypoaldosteronism Type 1, RecessiveTests Available
Pseudohypoaldosteronism Type IITests Available
Pseudohypoaldosteronism Type IIBTests Available
Pseudohypoaldosteronism Type IICTests Available
Pseudohypoaldosteronism Type IIDTests Available
Pseudohypoaldosteronism Type IIETests Available
Pseudohypoparathyroidism IaTests Available
Pseudohypoparathyroidism IbTests Available
Pseudohypoparathyroidism IcTests Available
Pseudohypoparathyroidism Type IBTests Available
Pseudoinflammatory Fundus DystrophyTests Available
Pseudoneonatal AdrenoleukodystrophyTests Available
PseudopseudohypoparathyroidismTests Available
Pseudoxanthoma ElasticumTests Available
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor DeficiencyTests Available
Psoriasis
Psoriasis 2Tests Available
Psychomotor Retardation, Epilepsy, and Craniofacial DysmorphismTests Available
PTCH1-Related HoloprosencephalyTests Available
PTEN Hamartoma Tumor Syndrome (PHTS)Tests Available
PTEN-Related Proteus SyndromeTests Available
PTH-Related Familial Isolated HypoparathyroidismTests Available
PTPN11-Related LEOPARD SyndromeTests Available
PTPN11-Related Noonan SyndromeTests Available
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related 4Tests Available
Pulmonary Fibrosis, IdiopathicTests Available
Pulmonary Fibrosis, Idiopathic SusceptibilityTests Available
Pulmonary Surfactant Metabolism DysfunctionTests Available
Pulmonary Venoocclusive Disease 1Tests Available
Pulmonary Venoocclusive Disease 2Tests Available
Purine Nucleoside Phosphorylase DeficiencyTests Available
PycnodysostosisTests Available
PYCR1-Related Cutis LaxaTests Available
Pyogenic Bacterial Infections, Recurrent, due to MYD88 DeficiencyTests Available
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and AcneTests Available
Pyridoxamine 5-Prime-Phosphate Oxidase DeficiencyTests Available
Pyridoxine-Dependent EpilepsyTests Available
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal RecessiveTests Available
Pyruvate Carboxylase DeficiencyTests Available
Pyruvate Dehydrogenase Complex DeficiencyTests Available
Pyruvate Dehydrogenase E1-Alpha DeficiencyTests Available
Pyruvate Dehydrogenase E1-Beta DeficiencyTests Available
Pyruvate Dehydrogenase E2 DeficiencyTests Available
Pyruvate Dehydrogenase E3-Binding Protein DeficiencyTests Available
Pyruvate Dehydrogenase Lipoic Acid Synthetase DeficiencyTests Available
Pyruvate Dehydrogenase Phosphatase DeficiencyTests Available
Pyruvate Kinase DeficiencyTests Available
 

Q 

Quebec Platelet DisorderTests Available
 

R 

RAD21-Related Cornelia de Lange SyndromeTests Available
RAD51-Related Susceptibility to Breast CancerTests Available
RAD51C-Related Familial Susceptibility to Breast-Ovarian CancerTests Available
RAD51C-Related Fanconi AnemiaTests Available
RAD51D-Related Familial Susceptibility to Breast-Ovarian CancerTests Available
Radioulnar Synostosis with Amegakaryocytic ThrombocytopeniaTests Available
RAF1-Related LEOPARD SyndromeTests Available
RAF1-Related Noonan SyndromeTests Available
Raine SyndromeTests Available
Rapadilino SyndromeTests Available
Rapid-Onset Dystonia-ParkinsonismTests Available
Rapp-Hodgkin SyndromeTests Available
RAPSN-Related Congenital Myasthenic SyndromeTests Available
RAPSN-Related Fetal Akinesia Deformation SequenceTests Available
RAS-Associated Autoimmune Leukoproliferative DisorderTests Available
RASA1-Related DisordersTests Available
RAX-Related Anophthalmia/MicrophthalmiaTests Available
RBM20-Related Dilated CardiomyopathyTests Available
RBP3-Related Retinitis PigmentosaTests Available
RD3-Related Leber Congenital AmaurosisTests Available
RDH12-Related Leber Congenital AmaurosisTests Available
RDH12-Related Retinitis PigmentosaTests Available
RDH5-Related Fundus AlbipunctatusTests Available
Recessive Dystrophic Epidermolysis BullosaTests Available
Recessive Dystrophic Epidermolysis BullosaTests Available
Recessive Dystrophic Epidermolysis Bullosa, Generalized, OtherTests Available
Recessive Dystrophic Epidermolysis Bullosa, Generalized, SevereTests Available
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe, Modifier ofTests Available
RECQL4-Related DisordersTests Available
Recurrent Infections, Encephalopathy, Hepatic Dysfunction and Cardiovascular MalformationsTests Available
Red-Green Color BlindnessTests Available
Red-Green Color Vision DefectsTests Available
Refsum DiseaseTests Available
Refsum Disease, InfantileTests Available
Renal AgenesisTests Available
Renal Cell CarcinomaTests Available
Renal Coloboma SyndromeTests Available
Renal Cysts and Diabetes SyndromeTests Available
Renal Dysplasia, Cystic, Susceptibility toTests Available
Renal GlucosuriaTests Available
Renal HypodysplasiaTests Available
Renal Hypodysplasia/Aplasia 1Tests Available
Renal Hypodysplasia/Aplasia 2Tests Available
Renal Hypomagnesemia 4Tests Available
Renal Hypouricemia 1Tests Available
Renal Hypouricemia 2Tests Available
Renal Tubular Acidosis, Distal, Autosomal DominantTests Available
Renal Tubular Acidosis, Distal, Autosomal RecessiveTests Available
Renal Tubular Acidosis, Distal, with Hemolytic AnemiaTests Available
Renal Tubular Dysgenesis, ACE-RelatedTests Available
Renal Tubular Dysgenesis, AGT-RelatedTests Available
Renal Tubular Dysgenesis, AGTR1-RelatedTests Available
Renal Tubular Dysgenesis, REN-RelatedTests Available
Renal-Hepatic-Pancreatic DysplasiaTests Available
Renpenning Syndrome 1Tests Available
RET-Related Hirschsprung DiseaseTests Available
RET-Related PheochromocytomaTests Available
Reticular DysgenesisTests Available
Reticulate Acropigmentation of KitamuraTests Available
Retinal Cone Dystrophy 3ATests Available
Retinal Cone Dystrophy 3BTests Available
Retinal Cone Dystrophy 4Tests Available
Retinal Dystrophy and Iris Coloboma with or without Cataract
Retinal Dystrophy and Obesity
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell AbnormalitiesTests Available
Retinal Dystrophy, Early-Onset, and Pituitary DysfunctionTests Available
Retinal Dystrophy, Early-Onset, SevereTests Available
Retinal Dystrophy, Iris Coloboma and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts and Short Stature Syndrome
Retinal Vasculopathy with Cerebral LeukodystrophyTests Available
Retinitis PigmentosaTests Available
Retinitis Pigmentosa, Autosomal Recessive, Bothnia TypeTests Available
Retinitis Pigmentosa, X-linked, and Sinorespiratory Infections, with or without DeafnessTests Available
RetinoblastomaTests Available
Retinopathy of PrematurityTests Available
Rett SyndromeTests Available
Rett Syndrome, Congenital VariantTests Available
Revesz SyndromeTests Available
RFT1-CDG (CDG-In)Tests Available
RGR-Related Retinitis PigmentosaTests Available
Rh-mod Syndrome
Rh-null Regulator Type related Hemolytic AnemiaTests Available
Rhabdoid Tumor Predisposition Syndrome 1Tests Available
Rhabdoid Tumor Predisposition Syndrome 2Tests Available
Rhizomelic Chondrodysplasia Punctata SpectrumTests Available
Rhizomelic Chondrodysplasia Punctata SpectrumTests Available
Rhizomelic Chondrodysplasia Punctata Type 1Tests Available
Rhizomelic Chondrodysplasia Punctata Type 2Tests Available
Rhizomelic Chondrodysplasia Punctata Type 3Tests Available
Rhizomelic Chondrodysplasia Punctata Type 5Tests Available
RHO-Related Retinitis PigmentosaTests Available
RHO-Related Retinitis Punctata AlbescensTests Available
Rhombencephalosynapsis
Ribbing Disease
Riboflavin DeficiencyTests Available
Ribose 5-Phosphate Isomerase DeficiencyTests Available
Richieri-Costa-Pereira SyndromeTests Available
RIDDLE SyndromeTests Available
Right Atrial IsomerismTests Available
Rigidity and Multifocal Seizure Syndrome, Lethal NeonatalTests Available
Ring Dermoid of CorneaTests Available
RIPPLY2-Related Spondylocostal Dysostosis, Autosomal RecessiveTests Available
RIT1-Related Noonan SyndromeTests Available
Ritscher-Schinzel Syndrome 1Tests Available
Ritscher-Schinzel Syndrome 2Tests Available
RLBP1-Related Fundus AlbipunctatusTests Available
RNASEH2A-Related Aicardi-Goutieres SyndromeTests Available
RNASEH2A-Related Aicardi-Goutieres SyndromeTests Available
RNASEH2B-Related Aicardi-Goutieres SyndromeTests Available
RNASEH2B-Related Aicardi-Goutieres SyndromeTests Available
RNASEH2C-Related Aicardi-Goutieres SyndromeTests Available
RNASEH2C-Related Aicardi-Goutieres SyndromeTests Available
Roberts SyndromeTests Available
Robinow Syndrome, Autosomal Dominant 1Tests Available
Robinow Syndrome, Autosomal Dominant 2Tests Available
Robinow Syndrome, Autosomal RecessiveTests Available
Robinow-Sorauf SyndromeTests Available
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-LinkedTests Available
ROM1-Related Retinitis PigmentosaTests Available
ROR2-Related DisordersTests Available
Rothmund-Thomson SyndromeTests Available
Rotor SyndromeTests Available
Roussy-Levy SyndromeTests Available
RP1-Related Retinitis PigmentosaTests Available
RP2-Related Retinitis PigmentosaTests Available
RP9-Related Retinitis PigmentosaTests Available
RPE65-Related Leber Congenital AmaurosisTests Available
RPE65-Related Retinitis PigmentosaTests Available
RPGR-Related Retinitis PigmentosaTests Available
RPGRIP1-Related Leber Congenital AmaurosisTests Available
RPGRIP1L-Related Joubert SyndromeTests Available
RPGRIP1L-Related Meckel SyndromeTests Available
RPL11-Related Diamond-Blackfan AnemiaTests Available
RPL15-Related Diamond-Blackfan AnemiaTests Available
RPL26-Related Diamond-Blackfan AnemiaTests Available
RPL35A-Related Diamond-Blackfan AnemiaTests Available
RPL5-Related Diamond-Blackfan AnemiaTests Available
RPS10-Related Diamond-Blackfan AnemiaTests Available
RPS17-Related Diamond-Blackfan AnemiaTests Available
RPS19-Related Diamond-Blackfan AnemiaTests Available
RPS24-Related Diamond-Blackfan AnemiaTests Available
RPS26-Related Diamond-Blackfan AnemiaTests Available
RPS7-Related Diamond-Blackfan AnemiaTests Available
RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal TubulopathyTests Available
RTEL1-Related Dyskeratosis CongenitaTests Available
Rubinstein-Taybi SyndromeTests Available
Russell-Silver SyndromeTests Available
RYR1-Related Congenital Fiber-Type DisproportionTests Available
RYR1-Related Malignant Hyperthermia SusceptibilityTests Available
RYR1-Related Multiminicore DiseaseTests Available
RYR2-Related Catecholaminergic Polymorphic Ventricular TachycardiaTests Available
 

S 

Saethre-Chotzen SyndromeTests Available
Saethre-Chotzen Syndrome, FGFR2-RelatedTests Available
SAG-Related Retinitis PigmentosaTests Available
Salih MyopathyTests Available
SALL4-Related DisordersTests Available
SALL4-Related Holt-Oram SyndromeTests Available
Salla DiseaseTests Available
SAMHD1-Related Aicardi-Goutieres SyndromeTests Available
SAMHD1-Related Aicardi-Goutieres SyndromeTests Available
Sandhoff DiseaseTests Available
SarcoglycanopathiesTests Available
SarcoglycanopathiesTests Available
Sarcoidosis, Susceptibility 2Tests Available
SarcosinemiaTests Available
Say-Barber-Biesecker Variant of Ohdo SyndromeTests Available
SC Phocomelia SyndromeTests Available
Scalp-Ear-Nipple SyndromeTests Available
Scalp-Ear-Nipple SyndromeTests Available
Scaphocephaly, Maxillary Retrusion and Mental RetardationTests Available
Scapuloperoneal Myopathy, MYH7-RelatedTests Available
Scapuloperoneal Myopathy, X-Linked DominantTests Available
Scapuloperoneal Spinal Muscular AtrophyTests Available
Scheie SyndromeTests Available
Schimke Immunoosseous DysplasiaTests Available
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic MosaicTests Available
Schindler DiseaseTests Available
Schinzel-Giedion Midface Retraction SyndromeTests Available
SchizophreniaTests Available
Schizophrenia 15Tests Available
Schizophrenia 4Tests Available
Schneckenbecken DysplasiaTests Available
Schopf-Schulz-Passarge SyndromeTests Available
SchwannomatosisTests Available
Schwannomatosis 1Tests Available
Schwannomatosis 2Tests Available
Schwartz-Jampel Syndrome, Type 1Tests Available
Sclerosteosis 1Tests Available
Sclerosteosis 2Tests Available
SCN1A- Related Generalized Epilepsy with Febrile Seizures PlusTests Available
SCN1A-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic SeizuresTests Available
SCN1A-Related Intractable Infantile Partial SeizuresTests Available
SCN1A-Related Myoclonic-Astatic EpilepsyTests Available
SCN1A-Related Seizure DisordersTests Available
SCN1A-Related Severe Myoclonic Epilepsy in InfancyTests Available
SCN1A-Related Simple Febrile SeizuresTests Available
SCN1B-Related Cardiac Conduction Defect, NonspecificTests Available
SCN1B-Related Familial Atrial FibrillationTests Available
SCN1B-Related Generalized Epilepsy with Febrile Seizures PlusTests Available
SCN2B-Related Familial Atrial FibrillationTests Available
SCN3B-Related Familial Atrial FibrillationTests Available
SCN4A-Related Congenital Myasthenic SyndromeTests Available
SCN5A-Associated Dilated CardiomyopathyTests Available
SCN5A-Related Brugada SyndromeTests Available
SCN5A-Related Dilated CardiomyopathyTests Available
SCN5A-Related DisordersTests Available
SCN5A-Related Familial Atrial FibrillationTests Available
SCN5A-Related Romano Ward SyndromeTests Available
SCN9A-Related Dravet SyndromeTests Available
SCN9A-Related Generalized Epilepsy with Febrile Seizures PlusTests Available
SCN9A-Related Inherited ErythromelalgiaTests Available
Scott SyndromeTests Available
SDCCAG8-Related Bardet-Biedl SyndromeTests Available
SDHA-Related Dilated CardiomyopathyTests Available
SDHA-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
SDHB-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
SDHB-Related Paraganglioma and Gastric Stromal SarcomaTests Available
SDHC-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
SDHC-Related Paraganglioma and Gastric Stromal SarcomaTests Available
SDHD-Related Hereditary Paraganglioma-Pheochromocytoma SyndromeTests Available
SDHD-Related Paraganglioma and Gastric Stromal SarcomaTests Available
Sea-blue Histiocyte DiseaseTests Available
Sebastian SyndromeTests Available
Seckel SyndromeTests Available
Seckel Syndrome Type 1Tests Available
Seckel Syndrome Type 2Tests Available
Seckel Syndrome Type 4Tests Available
Seckel Syndrome Type 5Tests Available
Seckel Syndrome Type 6Tests Available
Seckel Syndrome Type 7Tests Available
Seckel Syndrome Type 8Tests Available
Sedlackova SyndromeTests Available
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance SyndromeTests Available
SELENON-Related Congenital Fiber-Type DisproportionTests Available
SELENON-Related Multiminicore DiseaseTests Available
SELENON-Related MyopathyTests Available
SEMA3A-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
SEMA4A-Related Retinitis PigmentosaTests Available
Sengers SyndromeTests Available
Senior-Loken SyndromeTests Available
Senior-Loken Syndrome 1Tests Available
Senior-Loken Syndrome 4Tests Available
Senior-Loken Syndrome 5Tests Available
Senior-Loken Syndrome 6Tests Available
Senior-Loken Syndrome 7Tests Available
Senior-Loken Syndrome 8Tests Available
Septooptic DysplasiaTests Available
SERPINF1-Related Osteogenesis ImperfectaTests Available
SERPINF1-Related Osteogenesis ImperfectaTests Available
SERPINH1-Related Osteogenesis ImperfectaTests Available
SERPINH1-Related Osteogenesis ImperfectaTests Available
SETX-Related Amyotrophic Lateral SclerosisTests Available
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN)Tests Available
Severe Combined Immune DeficiencyTests Available
Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Positive, IL7R-RelatedTests Available
Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Positive, PTPRC-RelatedTests Available
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-RelatedTests Available
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative, JAK3-RelatedTests Available
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, CD3D-RelatedTests Available
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive, CD3E-RelatedTests Available
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing RadiationTests Available
Severe Combined Immunodeficiency with Sensitivity to Ionizing RadiationTests Available
Severe Congenital NeutropeniaTests Available
Severe Congenital Neutropenia, Autosomal Dominant, 2Tests Available
Severe Congenital Neutropenia, Autosomal Recessive, 3Tests Available
Severe Congenital Neutropenia, Autosomal Recessive, 4Tests Available
Severe Congenital Neutropenia, Autosomal Recessive, 5Tests Available
Severe Congenital Neutropenia, Autosomal Recessive, 6Tests Available
SFTPB-Related Pulmonary Surfactant Metabolism DysfunctionTests Available
SFTPC-Related Familial Pulmonary FibrosisTests Available
SFTPC-Related Pulmonary Surfactant Metabolism DysfunctionTests Available
SGCD-Related Dilated CardiomyopathyTests Available
SH2D1A-Related Lymphoproliferative Disease, X-LinkedTests Available
SHH-Related HoloprosencephalyTests Available
Short Chain Acyl-CoA Dehydrogenase DeficiencyTests Available
Short QT SyndromeTests Available
Short QT Syndrome 1Tests Available
Short QT Syndrome 2Tests Available
Short QT Syndrome 3Tests Available
Short Rib Polydactyly Syndrome, Beemer-Langer TypeTests Available
Short Rib Polydactyly Syndrome, Majewski TypeTests Available
Short Rib Polydactyly Syndrome, Saldino-Noonan TypeTests Available
Short Rib Polydactyly Syndrome, Verma-Naumoff TypeTests Available
Short Rib-Polydactyly Syndrome, Type VTests Available
Short Rib-Polydactyly Syndrome, Type VITests Available
Short Stature, Microcephaly and Endocrine DysfunctionTests Available
Short Stature, Onychodysplasia, Facial Dysmorphism and HypotrichosisTests Available
Short Stature, Optic Nerve Atrophy and Pelger-Huet AnomalyTests Available
SHORT SyndromeTests Available
SHORT SyndromeTests Available
Short-Rib Thoracic Dysplasia 10 with or without PolydactylyTests Available
Short-Rib Thoracic Dysplasia 11 with or without PolydactylyTests Available
SHOX-Related Haploinsufficiency DisordersTests Available
SHOX-Related Short StatureTests Available
Shprintzen-Goldberg SyndromeTests Available
Shwachman-Diamond SyndromeTests Available
SialuriaTests Available
Sick Sinus Syndrome 1, Autosomal RecessiveTests Available
Sick Sinus Syndrome 2, Autosomal DominantTests Available
Sick Sinus Syndrome 3, Susceptibility toTests Available
Sickle Cell DiseaseTests Available
Siderius X-Linked Mental Retardation SyndromeTests Available
Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers and Developmental DelayTests Available
SIGMAR1-Related Amyotrophic Lateral SclerosisTests Available
Silver Syndrome
Simpson-Golabi-Behmel Syndrome Type 1Tests Available
Simpson-Golabi-Behmel Syndrome, Type 2
Sinoatrial Node Dysfunction and DeafnessTests Available
SitosterolemiaTests Available
SitosterolemiaTests Available
SIX1-Related Branchiootorenal Spectrum DisordersTests Available
SIX2-Related Frontonasal DysplasiaTests Available
SIX3-Related HoloprosencephalyTests Available
SIX5-Related Branchiootorenal Spectrum DisordersTests Available
SIX6-Related Eye DisordersTests Available
Sjogren-Larsson SyndromeTests Available
Skeletal DysplasiaTests Available
Skin Fragility-Woolly Hair SyndromeTests Available
SLC16A1-Related HyperinsulinismTests Available
SLC26A4-Related Pendred SyndromeTests Available
SLC35A1-CDG (CDG-IIf)Tests Available
SLC35A2-CDG (CDG-IIm)Tests Available
SLC35C1-CDG (CDG-IIc)Tests Available
SLC40A1-Related Hereditary HemochromatosisTests Available
SLC4A1-Related SpherocytosisTests Available
SLC6A20-Related HyperglycinuriaTests Available
SLC6A4-Related Altered Drug MetabolismTests Available
SLC6A4-Related Behavior DisordersTests Available
SLC6A5-Related HyperekplexiaTests Available
SLC6A8-Related Creatine Transporter DeficiencyTests Available
SLC7A14-Related Retinitis PigmentosaTests Available
SLC9A6-Related Syndromic Mental RetardationTests Available
SLCO1B1-Related Altered Drug MetabolismTests Available
Slow AcetylationTests Available
Slowed Nerve Conduction Velocity, Autosomal DominantTests Available
SLX4-Related Fanconi AnemiaTests Available
SMAD2-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
SMAD3-Related Loeys-Dietz SyndromeTests Available
SMAD3-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
SMAD4-Related Hereditary Hemorrhagic TelangiectasiaTests Available
SMAD4-Related Juvenile PolyposisTests Available
SMAD4-Related Loeys-Dietz SyndromeTests Available
Small Fiber NeuropathyTests Available
Small Patella SyndromeTests Available
SMARCA4-Related Coffin-Siris SyndromeTests Available
SMARCB1-Related Coffin-Siris SyndromeTests Available
SMARCE1-Related Coffin-Siris SyndromeTests Available
SMC1A-Related Cornelia de Lange SyndromeTests Available
SMC3-Related Cornelia de Lange SyndromeTests Available
Smith-Lemli-Opitz SyndromeTests Available
Smith-Magenis SyndromeTests Available
Smith-McCort DysplasiaTests Available
Smith-McCort Dysplasia 2Tests Available
SNAP25-Related Congenital Myasthenic SyndromeTests Available
SNCA-Related Parkinson DiseaseTests Available
SNRNP200-Related Retinitis PigmentosaTests Available
SNX10-Related Autosomal Recessive OsteopetrosisTests Available
Snyder-Robinson SyndromeTests Available
SOD1-Related Amyotrophic Lateral SclerosisTests Available
Solitary Median Maxillary Central IncisorTests Available
SOS1-Related Noonan SyndromeTests Available
SOS2-Related Noonan SyndromeTests Available
SOST-Related Sclerosing Bone DysplasiasTests Available
Sotos Syndrome 1Tests Available
Sotos Syndrome 2Tests Available
Sotos Syndrome 2Tests Available
SOX2 Anophthalmia SyndromeTests Available
SOX2-Related Eye DisordersTests Available
SOX2-Related Eye DisordersTests Available
SP7-Related Osteogenesis ImperfectaTests Available
SP7-Related Osteogenesis ImperfectaTests Available
SPARC-Related Osteogenesis ImperfectaTests Available
Spastic Ataxia 1Tests Available
Spastic Ataxia 2Tests Available
Spastic Ataxia 3Tests Available
Spastic Ataxia 4Tests Available
Spastic Ataxia 5Tests Available
Spastic Paraplegia 1Tests Available
Spastic Paraplegia 10Tests Available
Spastic Paraplegia 11Tests Available
Spastic Paraplegia 12Tests Available
Spastic Paraplegia 13Tests Available
Spastic Paraplegia 15Tests Available
Spastic Paraplegia 17Tests Available
Spastic Paraplegia 17Tests Available
Spastic Paraplegia 18Tests Available
Spastic Paraplegia 2Tests Available
Spastic Paraplegia 26Tests Available
Spastic Paraplegia 28Tests Available
Spastic Paraplegia 30Tests Available
Spastic Paraplegia 31Tests Available
Spastic Paraplegia 33Tests Available
Spastic Paraplegia 35Tests Available
Spastic Paraplegia 35Tests Available
Spastic Paraplegia 39Tests Available
Spastic Paraplegia 3ATests Available
Spastic Paraplegia 4Tests Available
Spastic Paraplegia 42Tests Available
Spastic Paraplegia 43Tests Available
Spastic Paraplegia 44Tests Available
Spastic Paraplegia 45Tests Available
Spastic Paraplegia 46Tests Available
Spastic Paraplegia 47Tests Available
Spastic Paraplegia 48Tests Available
Spastic Paraplegia 49Tests Available
Spastic Paraplegia 50Tests Available
Spastic Paraplegia 51Tests Available
Spastic Paraplegia 52Tests Available
Spastic Paraplegia 53Tests Available
Spastic Paraplegia 54Tests Available
Spastic Paraplegia 55Tests Available
Spastic Paraplegia 56Tests Available
Spastic Paraplegia 57Tests Available
Spastic Paraplegia 59Tests Available
Spastic Paraplegia 5ATests Available
Spastic Paraplegia 6Tests Available
Spastic Paraplegia 61Tests Available
Spastic Paraplegia 62Tests Available
Spastic Paraplegia 63Tests Available
Spastic Paraplegia 64Tests Available
Spastic Paraplegia 66Tests Available
Spastic Paraplegia 7Tests Available
Spastic Paraplegia 72Tests Available
Spastic Paraplegia 75Tests Available
Spastic Paraplegia 76Tests Available
Spastic Paraplegia 8Tests Available
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive MicrocephalyTests Available
SPATA7-Related Leber Congenital AmaurosisTests Available
SPATA7-Related Retinitis PigmentosaTests Available
Speech-Language Disorder 1Tests Available
Spermatogenic Failure 10Tests Available
Spermatogenic Failure 11Tests Available
Spermatogenic Failure 12Tests Available
Spermatogenic Failure 3Tests Available
Spermatogenic Failure 4Tests Available
Spermatogenic Failure 5Tests Available
Spermatogenic Failure 6Tests Available
Spermatogenic Failure 7Tests Available
Spermatogenic Failure 8Tests Available
Spermatogenic Failure 9Tests Available
Spermatogenic Failure, X-Linked 2Tests Available
SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus CallosumTests Available
Spheroid Body MyopathyTests Available
Spinal and Bulbar Muscular AtrophyTests Available
Spinal Muscular AtrophyTests Available
Spinal Muscular Atrophy (SMN1)Tests Available
Spinal Muscular Atrophy (SMN2)Tests Available
Spinal muscular atrophy with progressive myoclonic epilepsyTests Available
Spinal Muscular Atrophy with Progressive Myoclonic EpilepsyTests Available
Spinal Muscular Atrophy with Respiratory Distress 1Tests Available
Spinal Muscular Atrophy, Distal, Autosomal Recessive 5Tests Available
Spinal Muscular Atrophy, Lower Extremity, Autosomal DominantTests Available
Spinal Muscular Atrophy, Lower Extremity-Predominant 2, Autosomal DominantTests Available
Spinal Muscular Atrophy, Proximal, Adult, Autosomal DominantTests Available
Spinal Muscular Atrophy, X-Linked InfantileTests Available
SPINK1-Related Hereditary PancreatitisTests Available
Spinocerebellar Ataxia 18Tests Available
Spinocerebellar Ataxia 29, Congenital NonprogressiveTests Available
Spinocerebellar Ataxia Type 1Tests Available
Spinocerebellar Ataxia Type 2Tests Available
Spinocerebellar Ataxia Type 21Tests Available
Spinocerebellar Ataxia Type 26Tests Available
Spinocerebellar Ataxia Type 3Tests Available
Spinocerebellar Ataxia Type 5Tests Available
Spinocerebellar Ataxia Type 6Tests Available
Spinocerebellar Ataxia Type 7Tests Available
Spinocerebellar Ataxia Type 8Tests Available
Spinocerebellar Ataxia Type10Tests Available
Spinocerebellar Ataxia Type11Tests Available
Spinocerebellar Ataxia Type12Tests Available
Spinocerebellar Ataxia Type13Tests Available
Spinocerebellar Ataxia Type14Tests Available
Spinocerebellar Ataxia Type15Tests Available
Spinocerebellar Ataxia Type17Tests Available
Spinocerebellar Ataxia Type19Tests Available
Spinocerebellar Ataxia Type20Tests Available
Spinocerebellar Ataxia Type23Tests Available
Spinocerebellar Ataxia Type27Tests Available
Spinocerebellar Ataxia Type28Tests Available
Spinocerebellar Ataxia Type35Tests Available
Spinocerebellar Ataxia Type36Tests Available
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal RecessiveTests Available
Spinocerebellar Ataxia with Saccadic Intrusions
Spinocerebellar Ataxia, Autosomal Recessive 1 Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 10Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 12Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 13Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 15Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 16Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 17Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 18Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 20Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 7Tests Available
Spinocerebellar Ataxia, Autosomal Recessive 9Tests Available
Split-Hand/Foot Malformation 1Tests Available
Split-Hand/Foot Malformation 1 with Sensorineural Hearing LossTests Available
Split-Hand/Foot Malformation 3Tests Available
Split-Hand/Foot Malformation 5Tests Available
Split-Hand/Foot Malformation 6Tests Available
Split-Hand/Foot Malformation, Type 4Tests Available
Spondylo-Megaepiphyseal-Metaphyseal DysplasiaTests Available
Spondyloarthropathy 1, Susceptibility toTests Available
Spondylocarpotarsal Synostosis SyndromeTests Available
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-LikeTests Available
Spondylocostal DysostosisTests Available
Spondylocostal Dysostosis 5, Autosomal DominantTests Available
Spondylocostal Dysostosis, Autosomal RecessiveTests Available
Spondylocostal Dysostosis, Autosomal RecessiveTests Available
Spondyloenchondrodysplasia with Immune DysregulationTests Available
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 with or without FracturesTests Available
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2Tests Available
Spondyloepimetaphyseal Dysplasia, Aggrecan TypeTests Available
Spondyloepimetaphyseal Dysplasia, MATN3-RelatedTests Available
Spondyloepimetaphyseal Dysplasia, Missouri TypeTests Available
Spondyloepimetaphyseal Dysplasia, Strudwick TypeTests Available
Spondyloepiphyseal DysplasiaTests Available
Spondyloepiphyseal Dysplasia CongenitaTests Available
Spondyloepiphyseal Dysplasia Tarda, X-LinkedTests Available
Spondyloepiphyseal Dysplasia, Kimberley TypeTests Available
Spondyloepiphyseal Dysplasia, Maroteaux TypeTests Available
Spondyloepiphyseal Dysplasia, Omani TypeTests Available
Spondylometaepiphyseal Dysplasia, Short Limb-Hand TypeTests Available
Spondylometaphyseal Dysplasia with Cone-Rod DystrophyTests Available
Spondylometaphyseal Dysplasia, Kozlowski TypeTests Available
Spondylometaphyseal Dysplasia, Sedaghatian TypeTests Available
Spondyloocular SyndromeTests Available
Spondyloperipheral DysplasiaTests Available
Spondylothoracic DysostosisTests Available
Spontaneous PneumothoraxTests Available
SPTA1-Related SpherocytosisTests Available
SPTB-Related SpherocytosisTests Available
SQSTM1-Related Amyotrophic Lateral SclerosisTests Available
SRD5A3-CDG (CDG-Iq)Tests Available
SRY-Negative 46,XX Testicular Disorder of Sex DevelopmentTests Available
SRY-Positive 46,XX Testicular Disorder of Sex DevelopmentTests Available
SRY-Related 46,XY DSD and 46,XY CGDTests Available
SSR4-CDG (CDG-Iy)Tests Available
ST14-Related Autosomal Recessive Congenital IchthyosisTests Available
Stapes Ankylosis with Broad Thumb and ToesTests Available
Stargardt DiseaseTests Available
Stargardt Disease 3Tests Available
Stargardt Disease 4Tests Available
Stargardt Disease, Autosomal RecessiveTests Available
Steatocystoma MultiplexTests Available
Steel SyndromeTests Available
Steroid 5-Alpha-Reductase DeficiencyTests Available
Steroid-Resistant Nephrotic Syndrome, NPHS2-RelatedTests Available
Steroid-Resistant Nephrotic Syndrome, XPO5-RelatedTests Available
Stickler SyndromeTests Available
Stiff Skin SyndromeTests Available
STING-associated Vasculopathy, Infantile-onsetTests Available
Stocco dos Santos X-Linked Mental Retardation SyndromeTests Available
Strabismus
Striatal Degeneration, Autosomal DominantTests Available
STT3A-CDG (CDGIw)Tests Available
STT3B-CDG (CDGIx)Tests Available
Sturge-Weber SyndromeTests Available
Sturge-Weber Syndrome, Somatic MosaicTests Available
Stuttering, Familial PersistentTests Available
Stuve-Wiedemann SyndromeTests Available
STX1B-Related Generalized Epilepsy with Febrile Seizures PlusTests Available
Succinic Semialdehyde Dehydrogenase DeficiencyTests Available
Succinyl-CoA:3-Oxoacid CoA Transferase DeficiencyTests Available
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic AciduriaTests Available
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic AciduriaTests Available
Sudden Cardiac DeathTests Available
Sudden Infant Death with Dysgenesis of the Testes SyndromeTests Available
Sulfate Transporter-Related OsteochondrodysplasiaTests Available
SulfocysteinuriaTests Available
SULT4A1-Related Altered Drug MetabolismTests Available
Supravalvular Aortic StenosisTests Available
Susceptibility to Salt-Sensitive Essential HypertensionTests Available
Susceptibility to Venous ThrombosisTests Available
Sveinsson Chorioretinal AtrophyTests Available
SYCP3-Related Pregnancy Loss, Susceptibility toTests Available
Syndactyly, Mesoaxial Synostotic with Phalangeal ReductionTests Available
Syndactyly, Type IITests Available
Syndactyly, Type IIITests Available
Syndactyly, Type IV
Syndactyly, Type VTests Available
SYNE1-Related Autosomal Recessive Cerebellar AtaxiaTests Available
SYNE1-Related Emery-Dreifuss Muscular DystrophyTests Available
SYNE2-Related Emery-Dreifuss Muscular DystrophyTests Available
SYNE2-Related Emery-Dreifuss Muscular Dystrophy, AutosomalTests Available
SYNJ1-Related Parkinson DiseaseTests Available
SYP-Related X-Linked Mental RetardationTests Available
Systemic Lupus Erythematosus 16Tests Available
Systemic Primary Carnitine DeficiencyTests Available
SYT2-Related Congenital Myasthenic SyndromeTests Available
 

T 

T-cell Acute Lymphoblastic Leukemia, SomaticTests Available
T-cell Acute Lymphocytic Leukemia-1Tests Available
T-Cell Immunodeficiency, Recurrent Infections, Autoimmunity and Cardiac MalformationsTests Available
TAC3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Tangier DiseaseTests Available
TARDBP-Related Amyotrophic Lateral SclerosisTests Available
TARDBP-Related Frontotemporal DementiaTests Available
TARP SyndromeTests Available
Tarsal-Carpal Coalition SyndromeTests Available
Tatton-Brown-Rahman SyndromeTests Available
Tay-Sachs DiseaseTests Available
TAZ-Related Dilated CardiomyopathyTests Available
TBX5-Related Holt-Oram SyndromeTests Available
TCAP-Related Dilated CardiomyopathyTests Available
TCAP-Related Familial Hypertrophic CardiomyopathyTests Available
TCF12-Related CraniosynostosisTests Available
TCIRG1-Related Autosomal Recessive OsteopetrosisTests Available
TCOF1-Related Treacher Collins SyndromeTests Available
TCTN1-Related Joubert SyndromeTests Available
TCTN2-Related Joubert SyndromeTests Available
TCTN2-Related Meckel SyndromeTests Available
TCTN3-Related Joubert SyndromeTests Available
Temple-Baraitser SyndromeTests Available
Temtamy Preaxial Brachydactyly SyndromeTests Available
Temtamy SyndromeTests Available
TERC-Related Dyskeratosis CongenitaTests Available
TERC-Related Familial Pulmonary FibrosisTests Available
Terminal Osseous DysplasiaTests Available
TERT-Related Dyskeratosis CongenitaTests Available
TERT-Related Familial Pulmonary FibrosisTests Available
Testicular Anomalies with or without Congenital Heart DiseaseTests Available
Tetra-Amelia SyndromeTests Available
Tetralogy of FallotTests Available
TFR2-Related Hereditary HemochromatosisTests Available
TGBFR2-Related Lynch SyndromeTests Available
TGFB2-Related Loeys-Dietz SyndromeTests Available
TGFB3-Related Loeys-Dietz SyndromeTests Available
TGFBR1-Related Loeys-Dietz SyndromeTests Available
TGFBR1-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
TGFBR2-Related Loeys-Dietz SyndromeTests Available
TGFBR2-Related Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
TGIF1-Related HoloprosencephalyTests Available
TGM1-Related Autosomal Recessive Congenital IchthyosisTests Available
Thalassemia IntermediaTests Available
Thalassemia MajorTests Available
Thalassemia MinorTests Available
Thanatophoric DysplasiaTests Available
Thanatophoric Dysplasia Type ITests Available
Thanatophoric Dysplasia Type IITests Available
THBD-Related Atypical Hemolytic-Uremic SyndromeTests Available
Thiamine Metabolism Dysfunction Syndrome 4 (Progressive Polyneuropathy Type)Tests Available
Thiamine Metabolism Dysfunction Syndrome 5Tests Available
Thiamine-Responsive Megaloblastic Anemia SyndromeTests Available
Thiopurine S-Methyltransferase DeficiencyTests Available
Thoracic Aortic Aneurysms and Aortic DissectionsTests Available
THPO-Related Essential ThrombocythemiaTests Available
Thrombasthenia of Glanzmann and Naegeli, ITGA2B-RelatedTests Available
Thrombasthenia of Glanzmann and Naegeli, ITGB3-RelatedTests Available
Thrombocythemia 2Tests Available
Thrombocythemia 3Tests Available
Thrombocytopenia 2Tests Available
Thrombocytopenia 4Tests Available
Thrombocytopenia 5Tests Available
Thrombocytopenia Absent Radius SyndromeTests Available
Thrombocytopenia with or without Dyserythropoietic AnemiaTests Available
Thrombocytopenia, Neonatal AlloimmuneTests Available
Thrombocytopenia, Paris-Trousseau TypeTests Available
ThrombophiliaTests Available
Thrombophilia due to HRG DeficiencyTests Available
Thrombophilia due to Thrombomodulin DefectTests Available
Thrombophilia, X-linked, due to Factor IX Defect THPH8|Deep venous thrombosis, protection against
Thyroid CarcinomaTests Available
Thyroid Carcinoma SomaticTests Available
Thyroid Carcinoma with ThyrotoxicosisTests Available
Thyroid Carcinoma, Follicular SomaticTests Available
Thyroid Dyshormonogenesis 3Tests Available
Thyroid Hormone Metabolism, AbnormalTests Available
Thyroid Hormone ResistanceTests Available
Thyroid Hormonogenesis Defect ITests Available
Thyrotoxic Periodic Paralysis 2Tests Available
Thyrotropin-Releasing Hormone DeficiencyTests Available
Tietz SyndromeTests Available
Timothy SyndromeTests Available
Timothy Syndrome Type 1Tests Available
Timothy Syndrome Type 2Tests Available
TINF2-Related Dyskeratosis CongenitaTests Available
TJP2-Related Familial HypercholanemiaTests Available
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic FormTests Available
TMEM127-Related Susceptibility to PheochromocytomaTests Available
TMEM138-Related Joubert SyndromeTests Available
TMEM165-CDG (CDG-IIk)Tests Available
TMEM216-Related Joubert SyndromeTests Available
TMEM216-Related Meckel SyndromeTests Available
TMEM231-Related Joubert SyndromeTests Available
TMEM231-Related Meckel SyndromeTests Available
TMEM237-Related Joubert SyndromeTests Available
TMEM38B-Related Osteogenesis ImperfectaTests Available
TMEM38B-Related Osteogenesis ImperfectaTests Available
TMEM43-Related Emery-Dreifuss Muscular Dystrophy, AutosomalTests Available
TMEM67-Related Joubert SyndromeTests Available
TMEM67-Related Meckel SyndromeTests Available
TMPO-Related Dilated CardiomyopathyTests Available
TNFRSF11A- Related Autosomal Recessive OsteopetrosisTests Available
TNFRSF13B-Related Common Variable Immune DeficiencyTests Available
TNFRSF13C-Related Common Variable Immune DeficiencyTests Available
TNFSF11-Related Autosomal Recessive OsteopetrosisTests Available
TNNC1-Related Dilated CardiomyopathyTests Available
TNNC1-Related Familial Hypertrophic CardiomyopathyTests Available
TNNI2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2BTests Available
TNNI3-Related Dilated CardiomyopathyTests Available
TNNI3-Related Familial Hypertrophic CardiomyopathyTests Available
TNNI3-Related Familial Restrictive CardiomyopathyTests Available
TNNT1-Related Nemaline MyopathyTests Available
TNNT2-Related Dilated CardiomyopathyTests Available
TNNT2-Related Familial Hypertrophic CardiomyopathyTests Available
TNNT2-Related Familial Restrictive CardiomyopathyTests Available
TNNT3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2BTests Available
Toe Syndactyly, Telecanthus, and Anogenital and Renal MalformationsTests Available
Tooth Agenesis, Selective, 1Tests Available
Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3Tests Available
Tooth Agenesis, Selective, 4Tests Available
Tooth Agenesis, Selective, X-Linked, 1Tests Available
TOPORS-Related Retinitis PigmentosaTests Available
Tourette SyndromeTests Available
Townes-Brocks SyndromeTests Available
TP63-Related DisordersTests Available
TPM1-Related Dilated CardiomyopathyTests Available
TPM1-Related Familial Hypertrophic CardiomyopathyTests Available
TPM2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2BTests Available
TPM2-Related Congenital Fiber-Type DisproportionTests Available
TPM2-Related Nemaline MyopathyTests Available
TPM3-Related Congenital Fiber-Type DisproportionTests Available
TPM3-Related Nemaline MyopathyTests Available
TPMT-Related Altered Drug MetabolismTests Available
Transaldolase DeficiencyTests Available
Transcobalamin II DeficiencyTests Available
Transient Familial Neonatal HyperbilirubinemiaTests Available
Transposition of the Great Arteries, Dextro-Looped 1Tests Available
Transposition of the Great Arteries, Dextro-Looped 3Tests Available
TRDN-Related Catecholaminergic Polymorphic Ventricular TachycardiaTests Available
Treacher Collins SyndromeTests Available
TREM2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing LeukoencephalopathyTests Available
TREX1-Related Aicardi-Goutieres SyndromeTests Available
TREX1-Related Aicardi-Goutieres SyndromeTests Available
Trichodontoosseous SyndromeTests Available
Trichohepatoenteric Syndrome 1Tests Available
Trichohepatoenteric Syndrome 2Tests Available
Trichorhinophalangeal Syndrome Type ITests Available
Trichorhinophalangeal Syndrome Type IITests Available
Trichorhinophalangeal Syndrome Type IIITests Available
Trichothiodystrophy 3, PhotosensitiveTests Available
Trichothiodystrophy 5, NonphotosensitiveTests Available
Trichothiodystrophy, Nonphotosensitive 1Tests Available
Trichothiodystrophy, PhotosensitiveTests Available
Trifunctional Protein DeficiencyTests Available
Trigonocephaly, NonsyndromicTests Available
TRIM32-Related Bardet-Biedl SyndromeTests Available
TrimethylaminuriaTests Available
Triosephosphate Isomerase DeficiencyTests Available
Triphalangeal Thumb
Triphalangeal Thumb-Polysyndactyly SyndromeTests Available
Trismus-Pseudocamptodactyly SyndromeTests Available
Troyer SyndromeTests Available
TRS2-Related Diamond-Blackfan Anemia with Mandibulofacial DysostosisTests Available
Tryptophan Hydroxylase DeficiencyTests Available
TSC1-Related LymphangioleiomyomatosisTests Available
TSEN2-Related Pontocerebellar HypoplasiaTests Available
TSEN34-Related Pontocerebellar HypoplasiaTests Available
TSEN54-Related Pontocerebellar HypoplasiaTests Available
TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal DominantTests Available
TTC21B-Related Joubert SyndromeTests Available
TTC8-Related Bardet-Biedl SyndromeTests Available
TTC8-Related Retinitis PigmentosaTests Available
TTN-Related Dilated CardiomyopathyTests Available
TTN-Related Familial Hypertrophic CardiomyopathyTests Available
TUBB3-Related Congenital Fibrosis of the Extraocular MusclesTests Available
TUBB3-Related Congenital Fibrosis of the Extraocular MusclesTests Available
Tuberous Sclerosis 1Tests Available
Tuberous Sclerosis 2Tests Available
Tuberous Sclerosis ComplexTests Available
Tubular Aggregate Myopathy 1Tests Available
Tubular Aggregate Myopathy 2Tests Available
Tukel Syndrome
TULP1-Related Leber Congenital AmaurosisTests Available
TULP1-Related Retinitis PigmentosaTests Available
Tumor Predisposition SyndromeTests Available
Turcot SyndromeTests Available
TUSC3-CDGTests Available
TWIST1-Related CraniosynostosisTests Available
TWNK-Related Ataxia Neuropathy Spectrum DisordersTests Available
TWNK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral FormTests Available
Tylosis with Esophageal CancerTests Available
Type 1 von Willebrand DiseaseTests Available
Type 2A von Willebrand DiseaseTests Available
Type 2B von Willebrand DiseaseTests Available
Type 2M von Willebrand DiseaseTests Available
Type 2N von Willebrand DiseaseTests Available
Type 3 von Willebrand DiseaseTests Available
Type II CollagenopathiesTests Available
TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing LeukoencephalopathyTests Available
Tyrosine Hydroxylase DeficiencyTests Available
Tyrosine Hydroxylase-Deficient Dopa-Responsive DystoniaTests Available
Tyrosinemia Type ITests Available
Tyrosinemia Type IITests Available
Tyrosinemia Type IIITests Available
 

U 

UBE2T-Related Fanconi AnemiaTests Available
UBQLN2-Related Amyotrophic Lateral Sclerosis/Frontotemporal DementiaTests Available
UCHL1-Related Parkinson Disease SusceptibilityTests Available
Udd Distal MyopathyTests Available
UGT1A1-Related Altered Drug MetabolismTests Available
UGT2B15-Related Altered Drug MetabolismTests Available
UGT2B17-Related Altered Drug MetabolismTests Available
UGT2B7-Related Altered Drug MetabolismTests Available
Ullrich Congenital Muscular DystrophyTests Available
Ullrich Congenital Muscular Dystrophy 2Tests Available
Ulnar-Mammary SyndromeTests Available
UMOD-Associated Kidney DiseaseTests Available
Unverricht-Lundborg DiseaseTests Available
UPK3A-Related Renal AdysplasiaTests Available
Urbach-Wiethe DiseaseTests Available
Urea Cycle DisordersTests Available
Urocanase DeficiencyTests Available
UROD-Related PorphyriasTests Available
Urofacial SyndromeTests Available
Urogenital Adysplasia, Hereditary
USH2A-Related Retinitis PigmentosaTests Available
Usher SyndromeTests Available
Usher Syndrome Type 1BTests Available
Usher Syndrome Type 1CTests Available
Usher Syndrome Type 1DTests Available
Usher Syndrome Type 1ETests Available
Usher Syndrome Type 1FTests Available
Usher Syndrome Type 1GTests Available
Usher Syndrome Type 1HTests Available
Usher Syndrome Type 1JTests Available
Usher Syndrome Type 1KTests Available
Usher Syndrome Type 2Tests Available
Usher Syndrome Type 2ATests Available
Usher Syndrome Type 2CTests Available
Usher Syndrome Type 2DTests Available
Usher Syndrome Type 3Tests Available
Usher Syndrome Type 3ATests Available
Usher Syndrome Type 3BTests Available
Usher Syndrome Type ITests Available
UV-Sensitive Syndrome 1Tests Available
UV-Sensitive Syndrome 3Tests Available
 

V 

VACTERL Association with HydrocephalusTests Available
VACTERL Association, X-Linked, with or without HydrocephalusTests Available
VACTERL with Hydrocephalus, FANCB-RelatedTests Available
van Buchem DiseaseTests Available
Van Buchem Disease, Type 2Tests Available
Van den Ende-Gupta SndromeTests Available
van der Woude SyndromeTests Available
van der Woude Syndrome 2Tests Available
Van Maldergem Syndrome 1Tests Available
Van Maldergem Syndrome 2Tests Available
VANGL1-Related Neural Tube DefectTests Available
VANGL2-Related Neural Tube DefectTests Available
VAPB-Related Amyotrophic Lateral SclerosisTests Available
Variant PKUTests Available
Variegate PorphyriaTests Available
Variegate Porphyria, Susceptibility toTests Available
Vascular Malformation
VATER Association
VCAN-Related VitreoretinopathyTests Available
VCL-Related Dilated CardiomyopathyTests Available
VCL-Related Familial Hypertrophic CardiomyopathyTests Available
VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal DementiaTests Available
Velocardiofacial SyndromeTests Available
Velocardiofacial Syndrome 2Tests Available
Ventricular Septal Defect 1Tests Available
Ventricular Septal Defect 2Tests Available
Ventricular Septal Defect 3Tests Available
Ventriculomegaly with Cystic Kidney DiseaseTests Available
Very Long Chain Acyl-Coenzyme A Dehydrogenase DeficiencyTests Available
Vesicoureteral Reflux 1
Vesicoureteral Reflux 2Tests Available
Vesicoureteral Reflux 3Tests Available
Vesicoureteral Reflux 8Tests Available
VHL-Related PheochromocytomaTests Available
Vici SyndromeTests Available
VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis SyndromeTests Available
Visceral Myopathy Tests Available
Vitamin D-Dependent Rickets Type ITests Available
Vitamin D-Dependent Rickets Type IBTests Available
Vitamin D-Dependent Rickets Type IBTests Available
Vitamin D-Dependent Rickets Type IITests Available
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1Tests Available
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2Tests Available
Vitelliform Macular Dystrophy Type 4Tests Available
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1Tests Available
VitreoretinochoroidopathyTests Available
Vitreoretinopathy, Neovascular InflammatoryTests Available
VKORC1-Related Altered Drug MetabolismTests Available
VLDLR-Associated Cerebellar HypoplasiaTests Available
Vohwinkel SyndromeTests Available
Vohwinkel Syndrome with IchthyosisTests Available
Von Hippel-Lindau DiseaseTests Available
von Willebrand DiseaseTests Available
VPS33B-Related Arthrogryposis, Renal Dysfunction, and Cholestasis SyndromeTests Available
VPS35-Related Parkinson DiseaseTests Available
 

W 

Waardenburg Syndrome Type ITests Available
Waardenburg Syndrome Type IITests Available
Waardenburg Syndrome Type IIATests Available
Waardenburg Syndrome Type IIBTests Available
Waardenburg Syndrome Type IICTests Available
Waardenburg Syndrome Type IIDTests Available
Waardenburg Syndrome Type IIETests Available
Waardenburg Syndrome Type IIITests Available
Waardenburg Syndrome Type IVATests Available
Waardenburg Syndrome Type IVBTests Available
Waardenburg Syndrome Type IVCTests Available
Waardenburg Syndrome/Albinism, DigenicTests Available
Wagner SyndromeTests Available
Waisman SyndromeTests Available
Walker-Warburg SyndromeTests Available
Warburg Micro Syndrome 1Tests Available
Warburg Micro Syndrome 2Tests Available
Warburg Micro Syndrome 3Tests Available
Warburg Micro Syndrome 4Tests Available
Warsaw Breakage SyndromeTests Available
WAS-Related DisordersTests Available
Watson SyndromeTests Available
WDPCP-Related Bardet-Biedl SyndromeTests Available
WDR11-Related Isolated Gonadotropin-Releasing Hormone (GnRH) DeficiencyTests Available
Weaver Syndrome 1Tests Available
Weill-Marchesani SyndromeTests Available
Weill-Marchesani-Like SyndromeTests Available
Weissenbacher-Zweymuller SyndromeTests Available
Welander Distal MyopathyTests Available
Werner SyndromeTests Available
Weyers Acrodental DysostosisTests Available
Weyers Acrofacial DysostosisTests Available
WFS1-Related DisordersTests Available
WHIM SyndromeTests Available
White Sponge Nevus of Cannon, KRT13-RelatedTests Available
White Sponge Nevus of Cannon, KRT4-RelatedTests Available
Wieacker-Wolff SyndromeTests Available
Wiedemann-Steiner SyndromeTests Available
Williams SyndromeTests Available
Williams-Beuren Region Duplication SyndromeTests Available
Wilms TumorTests Available
Wilms Tumor, SomaticTests Available
Wilms Tumor-Aniridia-Genital Anomalies-Retardation SyndromeTests Available
Wilson DiseaseTests Available
Wilson-Turner SyndromeTests Available
Winchester SyndromeTests Available
Wiskott-Aldrich SyndromeTests Available
Wiskott-Aldrich Syndrome 2Tests Available
Witkop SyndromeTests Available
WNT1-Related Osteogenesis ImperfectaTests Available
WNT4-Related 46,XY DSD and 46,XY CGDTests Available
Wolf-Hirschhorn SyndromeTests Available
Wolff-Parkinson-White SyndromeTests Available
Wolfram SyndromeTests Available
Wolfram Syndrome 2Tests Available
Wolfram Syndrome-Like DiseaseTests Available
Wolman DiseaseTests Available
Woodhouse-Sakati SyndromeTests Available
Woolly Hair, Autosomal RecessiveTests Available
WRAP53-Related Dyskeratosis CongenitaTests Available
Wrinkly Skin SyndromeTests Available
WT1-Related DisordersTests Available
WT1-Related DisordersTests Available
 

X 

X-Linked AcrogigantismTests Available
X-Linked Adrenal Hypoplasia CongenitaTests Available
X-Linked AgammaglobulinemiaTests Available
X-Linked Centronuclear MyopathyTests Available
X-linked Cone-Rod Dystrophy 3Tests Available
X-Linked Corpus Callosum AgenesisTests Available
X-Linked Dystonia-Parkinsonism SyndromeTests Available
X-Linked Familial Exudative VitreoretinopathyTests Available
X-Linked Hydrocephalus with Stenosis of the Aqueduct of SylviusTests Available
X-Linked Hyper IgM SyndromeTests Available
X-Linked HypophosphatemiaTests Available
X-Linked Intellectual Disability with or without NystagmusTests Available
X-Linked Juvenile RetinoschisisTests Available
X-Linked Leigh SyndromeTests Available
X-Linked Lissencephaly with Ambiguous GenitaliaTests Available
X-linked Liver Glycogenosis Type 1Tests Available
X-linked Liver Glycogenosis Type 2
X-Linked Mental Retardation 17Tests Available
X-Linked Mental Retardation 19Tests Available
X-Linked Mental Retardation 21Tests Available
X-Linked Mental Retardation 30Tests Available
X-Linked Mental Retardation 41Tests Available
X-Linked Mental Retardation 45Tests Available
X-Linked Mental Retardation 46Tests Available
X-Linked Mental Retardation 54Tests Available
X-Linked Mental Retardation 58Tests Available
X-linked Mental Retardation 59Tests Available
X-Linked Mental Retardation 63Tests Available
X-Linked Mental Retardation 72Tests Available
X-Linked Mental Retardation 88Tests Available
X-Linked Mental Retardation 89Tests Available
X-Linked Mental Retardation 9Tests Available
X-Linked Mental Retardation 90Tests Available
X-Linked Mental Retardation 91Tests Available
X-Linked Mental Retardation 93Tests Available
X-Linked Mental Retardation 94Tests Available
X-Linked Mental Retardation 95Tests Available
X-Linked Mental Retardation Associated with Fragile Site FRAXETests Available
X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial AppearanceTests Available
X-Linked Mental Retardation with EpilepsyTests Available
X-linked Mental Retardation, NonspecificTests Available
X-Linked Myopathy with Excessive AutophagyTests Available
X-Linked ProtoporphyriaTests Available
X-Linked Severe Combined ImmunodeficiencyTests Available
X-Linked Severe Congenital NeutropeniaTests Available
X-Linked Sideroblastic AnemiaTests Available
X-Linked Sideroblastic Anemia and AtaxiaTests Available
X-Linked Syndromic Mental Retardation 10Tests Available
X-Linked Syndromic Mental Retardation 13Tests Available
X-Linked Syndromic Mental Retardation, Claes-Jensen TypeTests Available
X-Linked ThrombocytopeniaTests Available
Xanthinuria, Type ITests Available
Xanthinuria, Type IITests Available
Xeroderma PigmentosumTests Available
XIAP-Related Lymphoproliferative Disease, X-LinkedTests Available
Xp11.3 Deletion SyndromeTests Available
XPA-Related Xeroderma PigmentosumTests Available
XPC-Related Xeroderma PigmentosumTests Available
 

Y 

Y Chromosome DetectionTests Available
Y Chromosome InfertilityTests Available
YARS-Related Intermediate Charcot-Marie-Tooth NeuropathyTests Available
 

Z 

ZAP70-Related Severe Combined ImmunodeficiencyTests Available
ZaspopathyTests Available
Zellweger SyndromeTests Available
Zellweger Syndrome SpectrumTests Available
Zellweger Syndrome SpectrumTests Available
ZIC1-Related CraniosynostosisTests Available
ZIC2-Related HoloprosencephalyTests Available
ZIC3-Related Visceral HeterotaxyTests Available
Zimmermann-Laband Syndrome 1Tests Available
Zimmermann-Laband Syndrome 2Tests Available
Zinc Deficiency, Transient NeonatalTests Available
ZNF423-Related Joubert SyndromeTests Available
ZNF513-Related Retinitis PigmentosaTests Available
ZNF674-Related X-linked Mental RetardationTests Available
ZNF711-Related X-Linked Mental RetardationTests Available
Zonular Pulverulent Cataract 1Tests Available
Zonular Pulverulent Cataract 3Tests Available