Multi-Method Panels

1 2 3 4 5 6 7 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 

15q11-q13 Duplication Syndrome Test
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
17-beta Hydroxysteroid Dehydrogenase III Deficiency
17-beta hydroxysteroid dehydrogenase X deficiency
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
17-hydroxylation activity deficiency
1p36 Deletion Syndrome Test
 

2 

2-aminoadipic 2-oxoadipic aciduria
2-methylbutyrylglycinuria
21-hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
21-Hydroxylase Gene (CYP21A2), Full Gene Analysis
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
21-hydroxylse-deficient Congential adrenal hyperplasia test
22q11.2 Duplication Test
 

3 

3-beta-hydroxysteroid dehydrogenase deficiency type 2
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency Test
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
3-hydroxyisobutryl-CoA hydrolase deficiency
3-M Syndrome / Primordial Dwarfism Panel
3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Sequencing
3-Methylcrotonyl-CoA Carboxylase Deficiency Test
3-methylglutaconic aciduria type 1
3-Methylglutaconic Aciduria Type 1 Test
3-Methylglutaconic Aciduria Type 2 Test
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3MC syndrome type 1
3MC syndrome type 2
3MCC Panel Sequence and Del/Dup Analysis
 

4 

46,XX sex reversal type 1
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
46,XY sex reversal type 8, modifier of
46XY sex reversal (Geschlechtsumkehr XY)
 

5 

5-oxoprolinase deficiency
 

6 

6q24 Methylation Specific-MLPA for transient neonatal diabetes
 

7 

7-Dehyrocholesteral Reductase (DHCR7 Sequencing)
 

A 

A1BG
A1CF
A2M
A2ML1
A4GALT
A4GNT
AAAS
AAAS Gene Sequencing
AACS
AADAC
AADACL2
AADACL3
AADACL4
AADAT
AAGAB
AAK1
AAMDC
AAMP
AANAT
AAR2
AARD
AARS
AARS2
AARS2 Sequence and Deletion/Duplication Analysis
AARSD1
Aarskog Syndrome Test
Aarskog-Scott Syndrome: FGD1 Gene Sequencing
AASDH
AASDHPPT
AASS
AATF
AATK
ABAT
ABCA1
ABCA1 Hypoalphalipoproteinemia
ABCA10
ABCA12
ABCA13
ABCA2
ABCA3
ABCA4
ABCA4 gene analysis
ABCA5
ABCA6
ABCA7
ABCA8
ABCA9
ABCB1
ABCB1 Sequencing
ABCB11
ABCB11 Gene Sequencing
ABCB11 Sequence and Deletion/Duplication Analysis
ABCB4
ABCB4 gene analysis (PFIC3, ICP, LPAC Syndrome)
ABCB4 Gene Sequencing
ABCB4 Sequence and Deletion/Duplication Analysis
ABCB5
ABCB6
ABCB7
ABCB8
ABCB9
ABCC1
ABCC10
ABCC11
ABCC12
ABCC2
ABCC3
ABCC4
ABCC5
ABCC6
ABCC6 gene analysis (Pseudoxanthoma Elasticum)
ABCC6 Sequencing
ABCC8
ABCC8 gene analysis (Hyperinsulinism, Neonatal Diabetes Mellitus)
ABCC9
ABCD1
ABCD1 Comprehensive
ABCD2
ABCD3
ABCD4
ABCD4 Sequence and Deletion/Duplication Analysis
ABCD4 Sequencing
ABCE1
ABCF1
ABCF2
ABCF3
ABCG1
ABCG2
ABCG4
ABCG5
ABCG5 Sequencing
ABCG8
ABCG8 Sequencing
Abetalipoproteinemia (MTTP Sequencing)
Abetalipoproteinemia
ABHD1
ABHD10
ABHD11
ABHD12
ABHD12 Sequence and Deletion/Duplication Analysis
ABHD13
ABHD14A
ABHD14A-ACY1
ABHD14B
ABHD15
ABHD16A
ABHD16B
ABHD17A
ABHD17B
ABHD2
ABHD4
ABHD5
ABHD5 Sequencing
ABHD6
ABHD8
ABI2
ABI3BP
ABL1
ABL2
Ablepharon-Macrostomia Syndrome (AMS)
ABLIM1
ABLIM2
Abnormal Genitalia/ Disorders of Sex Development Panel
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
ABO
ABRA
ABRACL
ABT1
ABTB1
ABTB2
ACAA1
ACACA
ACACA Sequence and Deletion/Duplication Analysis
ACACB
ACACB Sequence and Deletion/Duplication Analysis
ACAD10
ACAD11
ACAD8
ACAD8 Sequence and Deletion/Duplication Analysis
ACAD9
ACAD9 Deficiency: ACAD9 Gene Sequencing
ACAD9 Sequence and Deletion/Duplication Analysis
ACADL
ACADL Sequence and Deletion/Duplication Analysis
ACADM
ACADM Sequence and Deletion/Duplication Analysis
ACADS
ACADS Gene Sequencing
ACADS Sequence and Deletion/Duplication Analysis
ACADSB
ACADSB Gene Sequencing
ACADSB Sequence and Deletion/Duplication Analysis
ACADVL
ACADVL Gene Sequencing
ACADVL Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
ACADVL Sequence and Deletion/Duplication Analysis
ACAN
ACAP1
ACAP2
ACAP3
ACAT1
ACAT1 Gene Sequencing
ACAT1 Sequence and Deletion/Duplication Analysis
ACAT2
Acatalasemia
ACBD3
ACBD4
ACBD5
ACBD6
ACBD7
Accelerated tumor formation, susceptibility to
ACCS
ACCSL
ACD
ACE
ACER1
ACER2
ACER3
Acetycholinesterase deficiency
Achalasia addisonianism alacrimia syndrome
Achalasia: Sequencing Panel
ACHE
Achondrogenesis NGS panel
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondrogenesis, type IA (ACG1A) Comprehensive Test
Achondrogenesis, type IB (ACG1B) Comprehensive Test
Achondrogenesis, type II (ACG2) / Hypochondrogenesis Comprehensive Test
Achondroplasia
Achondroplasia (ACH) / Hypochondroplasia (HCH) Comprehensive Test
Achromatopsia NGS Panel
Achromatopsia Panel
Achromatopsia type 2
Achromatopsia type 3
Achromatopsia type 4
Achromatopsia type 6
Achromatopsia, Cone, and Cone-Rod Dystrophy: Sequencing Panel
Acid Sphingomyelinase Deficiency Mutation Test
ACIN1
ACKR1
ACKR2
ACKR3
ACKR4
ACLY
ACMSD
Acne inversa familial type 3
ACO1
ACO2
ACOT11
ACOT12
ACOT2
ACOT4
ACOT6
ACOT8
ACOX1
ACOX2
ACOX3
ACOXL
ACP1
ACP2
ACP5
ACP6
ACPP
ACPT
ACR
ACRBP
ACRC
Acrocallosal syndrome
Acrodermatitis enteropathica
Acrodysostosis 2
Acrodysostosis type 1, with or without hormone resistance
Acrofacial dysostosis 1, Nager type
Acrofacial Dysostosis 1, Nager Type (AFD1) Comprehensive Test
Acromegaly, predisposition to, due to germline GPR101 mutation
Acromelic frontonasal dysostosis
Acromelic Frontonasal Dysostosis (AFND)
Acromesomelic dysplasia, Hunter-Thompson type (AMDH)
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Maroteaux type (AMDM) Comprehensive Test
ACRV1
ACSBG1
ACSBG2
ACSF2
ACSF3
ACSF3 Sequence and Deletion/Duplication Analysis
ACSL1
ACSL3
ACSL4
ACSL4 Related X-linked intellectual disability
ACSL4-related Disorders: ACSL4 Gene Sequencing
ACSL5
ACSL6
ACSM1
ACSM2A
ACSM2B
ACSM3
ACSM4
ACSM5
ACSM6
ACSS1
ACSS2
ACSS3
ACTA1
ACTA1-Related Congenital Fiber-Type Disproportion Test
ACTA1-Related Nemaline Myopathy Test
ACTA2
ACTA2 Gene Sequencing
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections Test
ACTB
ACTBL2
ACTC1
ACTG1
ACTG2
ACTL10
ACTL6B
ACTL7A
ACTL8
ACTN1
ACTN2
ACTN3
ACTN4
ACTN4 Gene Sequencing
ACTR1A
ACTR1B
ACTR2
ACTR3B
ACTR3C
ACTR5
ACTR6
ACTR8
ACTRT1
ACTRT2
ACTRT3
Acute Intermittent Porphyria
Acute intermittent porphyria (deletion/duplication analysis of HMBS gene)
ACVR1
ACVR1B
ACVR1C
ACVR2A
ACVR2B
ACVRL1
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Test
ACY1
ACY3
Acyl-CoA Dehydrogenase 9 Deficiency Test
Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency Test
Acyl-CoA medium-chain dehydrogenase deficiency
Acyl-CoA multiple dehydrogenase deficiency
Acyl-CoA peroxisomal oxidase deficiency
Acyl-CoA short-chain dehydrogenase deficiency
Acyl-CoA very long-chain dehydrogenase deficiency
ACYP1
ACYP2
ADA
ADAD1
ADAD2
ADAL
ADAM10
ADAM12
ADAM17
ADAM18
ADAM19
ADAM2
ADAM20
ADAM21
ADAM22
ADAM28
ADAM29
ADAM30
ADAM33
ADAM7
ADAM9
Adams-Oliver Syndrome
Adams-Oliver Syndrome 1 (AOS1) Comprehensive Test
Adams-Oliver syndrome 2 (AOS2) Comprehensive Test
Adams-Oliver syndrome 3 (AOS3) Comprehensive Test
Adams-Oliver syndrome 4 (AOS4) Comprehensive Test
Adams-Oliver syndrome 5 (AOS5)
Adams-Oliver syndrome 6 Comprehensive Test
Adams-Oliver syndrome NGS panel Comprehensive Test
Adams-Oliver Syndrome Panel
Adams-Oliver syndrome type 1
Adams-Oliver syndrome type 2
Adams-Oliver syndrome type 3
Adams-Oliver syndrome type 4
Adams-Oliver syndrome type 6
ADAMTS1
ADAMTS10
ADAMTS12
ADAMTS13
ADAMTS14
ADAMTS16
ADAMTS17
ADAMTS18
ADAMTS2
ADAMTS2 Gene Sequencing
ADAMTS20
ADAMTS3
ADAMTS4
ADAMTS5
ADAMTS6
ADAMTS7
ADAMTS8
ADAMTS9
ADAMTSL1
ADAMTSL2
ADAMTSL3
ADAMTSL4
ADAMTSL4 Gene Sequencing
ADAR
ADARB1
ADAT1
ADAT2
ADAT3
ADCK1
ADCK2
ADCK3
ADCK4
ADCK5
ADCY1
ADCY10
ADCY3
ADCY4
ADCY5
ADCY6
ADCY7
ADCY8
ADCY9
ADCYAP1
ADCYAP1R1
ADD1
ADD2
ADD3
Adenine phosphoribosyltransferase deficiency
Adenomatous Polyposis (APC and MUTYH Gene Sequence and Deletion/ Duplication Analyses)
Adenosine Monophosphate Deaminase (AMPD) Deficiency, Erythrocytic: AMPD3 Gene Sequencing
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Sequencing
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Two Mutation Panel
Adenosine triphosphate, elevated, of erythrocytes
Adenylosuccinase deficiency
ADGB
ADGRA1
ADGRA2
ADGRA3
ADGRB2
ADGRB3
ADGRD1
ADGRE1
ADGRE2
ADGRE3
ADGRE5
ADGRF1
ADGRF2
ADGRF3
ADGRF4
ADGRF5
ADGRG1
ADGRG3
ADGRG4
ADGRG5
ADGRG6
ADGRG7
ADGRL1
ADGRL2
ADGRL3
ADGRL4
ADGRV1
ADH1A
ADH1B
ADH1C
ADH4
ADH5
ADH7
ADHFE1
ADIG
ADIPOQ
ADIPOR1
ADIPOR2
ADK
ADM
ADM5
ADNP
ADNP2
ADO
ADORA1
ADORA2A
ADORA3
ADPGK
ADPRH
ADPRHL1
ADPRHL2
ADPRM
ADRA1A
ADRA2A
ADRA2B
ADRA2C
ADRB1
ADRB2
ADRB3
ADRBK1
ADRBK2
Adrenal hyperplasia due to 21-hydroxylase deficiency
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
Adrenal hypoplasia
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Adrenocortical Insufficiency (NR5A1 Sequencing)
Adrenocorticotropic hormone deficiency
Adrenoleukodystrophy (ABCD1), Deletions/Duplications and Sequencing
Adrenoleukodystrophy, x-linked
Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication
Adrenoleukodystrophy, X-Linked (ALD) Test
Adrenoleukodystrophy, X-Linked Test
Adrenoleukodystrophy/Adrenomyeloneuropathy
ADRM1
ADSL
ADSL Sequence and Deletion/Duplication Analysis
ADSS
ADTRP
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel
ADULT syndrome, split hand-foot malformation
Advanced mtDNA Point Mutations and Deletions-NGS
AEBP1
AEN
AFAP1
AFAP1L1
AFAP1L2
AFF1
AFF2
AFF3
AFF4
AFG3L2
Afibrinogenemia panel
Afibrinogenemia, congenital
AFM
AFMID
AFP
AFTPH
AGA
AGA Gene Sequencing
Agammaglobulinemia and isolated hormone deficiency
Agammaglobulinemia panel
Agammaglobulinemia type 1, autosomal recessive
Agammaglobulinemia type 1, X-linked
Agammaglobulinemia type 2, autosomal recessive
Agammaglobulinemia type 3, autosomal recessive
Agammaglobulinemia type 4, autosomal recessive
Agammaglobulinemia type 5, autosomal recessive
Agammaglobulinemia type 6, autosomal recessive
Agammaglobulinemia type 7, autosomal recessive
AGAP11
AGAP2
AGAP5
AGAP6
AGBL1
AGBL2
AGBL3
AGBL4
AGBL5
Agenesis of the corpus callosum with peripheral neuropathy
AGER
AGFG1
AGGF1
AGK
AGL
AGL Sequence and Deletion/Duplication Analysis
AGMO
AGO1
AGO2
AGO3
AGO4
AGPAT1
AGPAT2
AGPAT3
AGPAT4
AGPS
AGR2
AGR3
AGRN
AGRN-Related Congenital Myasthenic Syndrome Test
AGRP
AGT
AGTR1
AGTR2
AGTRAP
AGXT
AGXT Gene Sequencing and Del/Dup
AGXT Gene, Full Gene Analysis
AGXT2
AHCTF1
AHCY
AHCYL2
AHDC1
AHI1
AHI1 Gene Sequencing
AHNAK
AHNAK2
AHR
AHRR
AHSA1
AHSA2
AHSG
AHSP
aHUS Genetic Evaluation
Aicardi-Goutieres Sequencing Panel (6 genes) with MLPA Duplication/Deletion Analysis
Aicardi-Goutieres Syndrome NGS Panel
Aicardi-Goutieres syndrome panel
Aicardi-Goutieres syndrome type 1
Aicardi-Goutieres syndrome type 2
Aicardi-Goutieres syndrome type 3
Aicardi-Goutieres syndrome type 4
Aicardi-Goutieres syndrome type 5
Aicardi-Goutieres syndrome type 6
Aicardi-Goutieres syndrome type 7
AICDA
AICDA Sequencing
AIDA
AIF1
AIF1L
AIFM1
AIFM2
AIFM3
AIM1
AIM1L
AIM2
AIMP1
AIMP2
AIP
AIP-Related Familial Isolated Pituitary Adenomas
AIP-Related Familial Isolated Pituitary Adenomas Test
AIPL1
AIPL1 Sequence and Deletion/Duplication Analysis
AIPL1 Sequencing
AIRE
AIRE Sequencing
AJUBA
AK1
AK2
AK3
AK4
AK6
AK7
AK9
AKAP1
AKAP10
AKAP11
AKAP12
AKAP13
AKAP14
AKAP2
AKAP3
AKAP4
AKAP5
AKAP6
AKAP8
AKAP8L
AKAP9
AKNAD1
AKR1A1
AKR1B1
AKR1B1 Sequencing
AKR1B10
AKR1B15
AKR1C1
AKR1C2
AKR1C3
AKR1C4
AKR1D1
AKR1E2
AKR7A2
AKR7A3
AKT1
AKT1S1
AKT2
AKT3
AKTIP
Alacrima, achalasia and mental retardation syndrome
ALAD
ALAD Gene Sequencing and Del/Dup
Alagille syndrome (deletion/duplication analysis of JAG1 gene)
Alagille Syndrome (JAG1 sequence and deletion/duplication analysis)
Alagille syndrome 1 (ALGS1) Comprehensive Test
Alagille syndrome 2 (ALGS2) Comprehensive Test
Alagille Syndrome Deletion/Duplication Panel
Alagille syndrome NGS panel
Alagille syndrome type 1
Alagille syndrome type 2
Alagille Syndrome, ATP8B1 related
Aland Island eye disease
Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene)
ALAS1
ALAS2
Alazami syndrome
ALB
Albinism NGS Panel
Albinism oculocutaneous type II (deletion on OCA2 gene)
Albinism panel
Albinism, ocular type I, Nettleship-Falls type
Albinism, oculocutaneous nonsyndromic
Albinism, oculocutaneous type 1A
Albinism, oculocutaneous type 1B
Albinism, oculocutaneous type 2
Albinism, oculocutaneous type 3
Albinism, oculocutaneous type 4
Albinism, oculocutaneous type 5
Albinism: Sequencing Panel
ALCAM
ALDH16A1
ALDH18A1
ALDH1A1
ALDH1A2
ALDH1A3
ALDH1B1
ALDH1L1
ALDH1L2
ALDH2
ALDH3A1
ALDH3A2
ALDH3A2 Gene Sequencing
ALDH3B1
ALDH3B2
ALDH4A1
ALDH4A1 Sequence and Deletion/Duplication Analysis
ALDH5A1
ALDH5A1 Sequence and Deletion/Duplication Analysis
ALDH6A1
ALDH7A1
ALDH8A1
ALDOA
ALDOB
ALDOB Gene Sequencing and Del/Dup
ALDOB Sequence and Deletion/Duplication Analysis
ALDOB Sequencing
ALDOC
Alexander disease
ALG1
ALG10
ALG10B
ALG11
ALG12
ALG13
ALG13 Sequencing
ALG14
ALG1L
ALG1L2
ALG2
ALG2 Sequence and Deletion/Duplication Analysis
ALG3
ALG5
ALG6
ALG8
ALG9
ALK
Alkaptonuria
Alkaptonuria Test
ALKBH1
ALKBH2
ALKBH3
ALKBH4
ALKBH5
ALKBH7
ALKBH8
All centromere panel (MLPA)
All-in-One
Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley Syndrome: SLC16A2 Gene Sequencing
ALLC
ALMS1
Alopecia universalis
ALOX12
ALOX12B
ALOX12B Gene Sequencing
ALOX15
ALOX15B
ALOX5
ALOX5AP
ALOXE3
ALOXE3 Gene Sequencing
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
Alpha Thalassemia deletion/duplication analysis
Alpha Thalassemia HBA1-HBA2
Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Alpha-1-antitrypsin deficiency
Alpha-2-macroglobulin deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-Mannosidosis Test
Alpha-Mannosidosis: MAN2B1 Gene Sequencing
Alpha-methylacyl CoA racemase deficiency
Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-N-acetylgalactosaminidase (Alpha-NAGA) Deficiency: NAGA Gene Sequencing
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes)
Alpha-Thalassemia (HBA1/HBA2)
Alpha-Thalassemia Test
Alpha-Thalassemia X-Linked (ATRX) Intellectual Disability Syndrome Test
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome (ATRX)
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - ATRX
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Test
Alpha-Thalassemia X-Linked MR Syndrome: ATRX Gene Sequencing
Alpha-thalassemia/mental retardation syndrome
ALPI
ALPK1
ALPK2
ALPK3
ALPL
ALPL Comprehensive
Alport Syndrome (COL4A3 Sequencing)
Alport Syndrome (COL4A4 Sequencing)
Alport syndrome (deletion/duplication analysis of COL4A5 gene)
Alport Syndrome / Fechtner Syndrome
Alport Syndrome NGS Panel
Alport syndrome NGS panel Comprehensive Test
Alport Syndrome Pane (COL4A3, COL4A4, COL4A5)
Alport syndrome panel
Alport syndrome, autosomal recessive
Alport syndrome, X-Linked
Alport syndrome, X-linked (ATS) Comprehensive Test
Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication
ALPP
ALPPL2
ALS2
ALS2CL
ALS2CR11
ALS2CR12
Alstrom syndrome
Alternating hemiplegia of childhood type 1
Alternating hemiplegia of childhood type 2
Alveolar capillary dysplasia with misalignment of pulmonary veins
ALX1
ALX4
Alzheimer and dementia: Sequencing Panel
Alzheimer Dementia (APP gene)
Alzheimer dementia and dementia panel
Alzheimer disease type 1
Alzheimer Disease Type 1 (APP)
Alzheimer Disease Type 1 Test
Alzheimer disease type 2
Alzheimer disease type 3
Alzheimer disease type 3 (deletion/duplication analysis on PSEN1 gene)
Alzheimer Disease Type 3 Test
Alzheimer disease type 4
Alzheimer disease, type 3 , PSEN1
Alzheimer disease, type 3 - PSEN1
Alzheimer disease-4 , PSEN2
Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 49 genes)
Alzheimer's Disease Panel
Alzheimers disease, early onset, autosomal dominant
AMACR
AMBN
AMBP
AMDHD2
Amelogenesis imperfecta and related disorders NGS panel
Amelogenesis Imperfecta NGS Panel
Amelogenesis imperfecta type 1A
Amelogenesis imperfecta type 1B
Amelogenesis imperfecta type 1C
Amelogenesis imperfecta type 1E
Amelogenesis imperfecta type 1G
Amelogenesis imperfecta type 2A1
Amelogenesis imperfecta type 2A2
Amelogenesis imperfecta type 2A3
Amelogenesis imperfecta type 2A4
Amelogenesis imperfecta type 2A5
Amelogenesis imperfecta type 3
Amelogenesis imperfecta type 4
Amelogenesis imperfecta, type IV (AI4)
AMELX
AMER1
AMER2
AMER3
AMH
AMHR2
AMICA1
AMIGO1
AMIGO2
AMIGO3
Amino Adipic Aciduria Test
Aminoacylase deficiency
Amish infantile epilepsy syndrome
AMMECR1L
AMN
AMN1
AMOTL1
AMOTL2
AMP deaminase deficiency, erythrocytic
AMPD1
AMPD2
AMPD3
AMPH
Amplification of chromosome 21 (iAMP21)
AMT
AMT Sequence and Deletion/Duplication Analysis
AMTN
AMY2B
Amyloidosis
Amyloidosis, familial visceral
Amyloidosis, finnish type
Amyloidosis, primary localized cutaneous, type 1
Amyloidosis, primary localized cutaneous, type 2
Amyotrophic Lateral Sclerosis (ALS) Panel
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 27 Genes)
Amyotrophic lateral sclerosis 4, juvenile (deletion/duplication analysis of SETX gene)
Amyotrophic lateral sclerosis and related disorders NGS panel
Amyotrophic Lateral Sclerosis Multi-Gene Panel
Amyotrophic Lateral Sclerosis NGS Panel
Amyotrophic Lateral Sclerosis Panel
Amyotrophic lateral sclerosis risk factor
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 12
Amyotrophic lateral sclerosis type 14
Amyotrophic lateral sclerosis type 16
Amyotrophic lateral sclerosis type 17
Amyotrophic lateral sclerosis type 18
Amyotrophic lateral sclerosis type 2, juvenile
Amyotrophic lateral sclerosis type 21
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 9
Amyotrophic lateral sclerosis, CREST related
Amyotrophic lateral sclerosis, susceptibility to
Amyotrophic lateral sclerosis, VPS54 related
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS
Amyotrophy hereditary neuralgic
AMZ1
AMZ2
Analysis APC gene (Adenomatous polyposis coli )
Analysis ASPM gene (Primary Autosomal Recessive Microcephaly 5)
Analysis CDKL5 gene (Early Infantile Epileptic Encephalopathy 2, Angelman syndrome-like)
Analysis CENPJ gene (Primary Autosomal Recessive Microcephaly 6)
Analysis DOCK8 gene (Hyper IgE Syndrome)
Analysis Dyslipidemia Genes (NGS panel 29 Genes)
Analysis F8 gene (Hemophilia A)
Analysis FOXE1 gene (Bamforth-Lazarus syndrome )
Analysis FOXG1 gene (Rett Syndrome, Congenital Variant)
Analysis GNAS gene (Pseudohypoparathyroidism Type IA)
Analysis GPC3 gene (Simpson-Golabi-Behmel Syndrome 1)
Analysis HESX1 gene (Septooptic Dysplasia, Combined Pituitary Hormone Deficiency 5)
Analysis HEXA gene for Tay-Sachs Disease
Analysis KCNH2 gene (Long QT 2, Short QT 1)
Analysis KCNQ1 gene (LQT1, SQT2, JLNS)
Analysis LHX3 gene (Combined Pituitary Hormone Deficiency 3)
Analysis LHX4 gene (Combined Pituitary Hormone Deficiency 4)
Analysis MCPH1 gene (Primary Autosomal Recessive Microcephaly 1)
Analysis MECP2 gene (Rett Syndrome, MECP2 Duplication Syndrome, Angelman-like Syndrome)
Analysis MLH1 gene (Lynch Syndrome)
Analysis MSH2 gene (Lynch Syndrome)
Analysis MSH6 gene (Lynch Syndrome)
Analysis NKX2-1 gene (Choreoathetosis, hypothyroidism, and neonatal respiratory distress)
Analysis NPC1 gene (Niemann-Pick Disease, type C)
Analysis NPC2 gene (Niemann-Pick Disease, type C)
Analysis OCA2 gene (Oculocutaneous Albinism)
Analysis of Agammaglobulinemia, X-Linked; XLA
Analysis of Angelman Syndrome; AS
Analysis of Chromosome 1p36 Deletion Syndrome
Analysis of Chromosome 22q11.2 Duplication Syndrome
Analysis of Colorectal Cancer; CRC
Analysis of Cri-Du-Chat Syndrome
Analysis of Digeorge Syndrome; DGS
Analysis of Juvenile Myelomonocytic Leukemia; JMML
Analysis of Leukemia, Acute Myeloid;
Analysis of Lung Cancer
Analysis of Macroglobulinemia, Waldenstrom, Susceptibility To, 1; WM1
Analysis of Mast Cell Disease
Analysis of Miller-Dieker Lissencephaly Syndrome; MDLS
Analysis of Neurofibromatosis, Type I; NF1
Analysis of Phelan-Mcdermid Syndrome
Analysis of Prader-Willi Syndrome; PWS
Analysis of Smith-Magenis Syndrome; SMS
Analysis of Williams-Beuren Syndrome; WBS
Analysis of Wolf-Hirschhorn Syndrome (del 4p)
Analysis OPA1 gene (Optic Atrophy)
Analysis OTX2 gene (Microphthalmia, Pituitary hormone deficiency)
Analysis PAX6 gene (Aniridia)
Analysis PAX8 gene (Congenital Hypothyroidism, Nongoitrous 2)
Analysis PMS2 gene (Lynch Syndrome)
Analysis PORCN gene (Focal Dermal Hypoplasia or Goltz-Gorlin Syndrome)
Analysis POU1F1 gene (Combined Pituitary Hormone Deficiency 1)
Analysis PROP1 gene (Combined Pituitary Hormone Deficiency 2)
Analysis RASA1 gene (Capillary Malformation - Arteriovenous Malformation)
Analysis SERPING1 (C1NH) gene (Hereditary Angioedema types I and II)
Analysis SLC26A4 gene (Pendred Syndrome)
Analysis SOX2 gene (Anophtalmia, Microphtalmia)
Analysis STIL gene (Primary Autosomal Recessive Microcephaly 7)
Analysis TPO gene (Thyroid dyshormonogenesis 2A)
Analysis TRPS1 gene (TRP Syndrome 1)
Analysis TSHR gene (Congenital Hypothyroidism, Hyperthyroidism)
Analysis TTN gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy)
Analysis TYR gene (Oculocutaneous Albinism)
Analysis WT1 gene (Denys-Drash Syndrome, Frasier Syndrome, Wilms Tumor)
ANAPC1
ANAPC10
ANAPC11
ANAPC13
ANAPC15
ANAPC16
ANAPC2
ANAPC4
ANAPC5
ANAPC7
Anauxetic dysplasia
Andersen disease
Andersen Syndrome Type 1 Test
Andersen-Tawil Syndrome
Androgen insensitivity
Androgen Insensitivity Panel (AR and SRD5A2 Sequencing)
Androgen Insensitivity Syndrome (AR Sequencing)
Androgen Insensitivity Syndrome Test
Androgen insensitivity, partial, with or without breast cancer
Androgen receptor mutation - Ex 1-3
Anemia dyserythropoietic type 1A
Anemia dyserythropoietic type 2
Anemia Panel
Anemia, neonatal hemolytic, fatal and near-fatal
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Anemia, sideroblastic, with ataxia
Anemia, sideroblastic, X-linked
Anemia, X-linked
ANG
ANG-Related Amyotrophic Lateral Sclerosis Test
ANGEL1
ANGEL2
Angelman Syndrome
Angelman syndrome (Angelman Syndrom)
Angelman Syndrome (UBE3A sequence and deletion/duplication analysis)
Angelman Syndrome by MS-MLPA
Angelman Syndrome Panel
Angelman Syndrome Test
Angelman Syndrome Test, Methylation and Deletion/Duplication Analysis
Angelman Syndrome Tier 2 Panel
Angelman Syndrome, Methylation and Deletion/Duplication
Angelman Syndrome: UBE3A Gene Sequencing
Angelman-like syndrome
Angelman-like Syndrome: SLC9A6 Gene Sequencing
Angioedema, hereditary
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps (HANAC)
ANGPT1
ANGPT2
ANGPT4
ANGPTL2
ANGPTL3
ANGPTL4
ANGPTL5
ANGPTL7
Anhaptoglobinemia
ANHX
Aniridia
Aniridia (deletion/duplication analysis of PAX6 gene)
Aniridia / WAGR syndrome
ANK1
ANK1 Gene Sequencing
ANK2
ANK3
ANKAR
ANKDD1A
ANKDD1B
ANKEF1
ANKFN1
ANKFY1
ANKH
ANKH Sequence and Deletion/Duplication Analysis
ANKHD1
ANKHD1-EIF4EBP3
ANKIB1
ANKK1
ANKLE1
ANKLE2
ANKMY1
ANKMY2
ANKRA2
ANKRD1
ANKRD10
ANKRD11
ANKRD12
ANKRD13A
ANKRD13B
ANKRD13C
ANKRD13D
ANKRD17
ANKRD18A
ANKRD18B
ANKRD23
ANKRD24
ANKRD26
ANKRD27
ANKRD28
ANKRD30B
ANKRD31
ANKRD33
ANKRD33B
ANKRD34A
ANKRD34B
ANKRD34C
ANKRD35
ANKRD37
ANKRD39
ANKRD40
ANKRD42
ANKRD44
ANKRD45
ANKRD46
ANKRD49
ANKRD50
ANKRD52
ANKRD53
ANKRD54
ANKRD55
ANKRD6
ANKRD61
ANKRD62
ANKRD7
ANKRD9
ANKS1A
ANKS1B
ANKS3
ANKS4B
ANKUB1
Ankyloblepharon-ectodermal defects-cleft lip/palate
ANKZF1
ANLN
ANO1
ANO10
ANO2
ANO3
ANO4
ANO5
ANO6
ANO7
ANO9
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
ANOS1
ANOS1 FISH
ANOS1 Gene Sequencing and FISH
ANOS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
ANP32A
ANP32C
ANP32D
ANP32E
ANPEP
Anterior Segment Dysgenesis
Anterior segment mesenchymal dysgenesis
Antithrombin Deficiency (SERPINC1)
Antithrombin III deficiency
Antitrypsin-alpha-1 deficiency
Antley-Bixler syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ANTXR1
ANTXR2
ANTXRL
ANXA10
ANXA11
ANXA13
ANXA2R
ANXA3
ANXA4
ANXA5
ANXA6
ANXA7
ANXA9
AOAH
AOC1
AOC2
AOC3
Aorta Panel
Aortic aneurysm, ascending, and dissection
Aortic aneurysm, familial thoracic 3 (AAT3) Comprehensive Test
Aortic aneurysm, familial thoracic 4 (AAT4) Comprehensive Test
Aortic aneurysm, familial thoracic 5 (AAT5) Comprehensive Test
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) Comprehensive Test
Aortic aneurysm, familial thoracic 6 (AAT6) Comprehensive Test
Aortic aneurysm, familial thoracic 8 (AAT8) Comprehensive Test
Aortic Aneurysm, Familial Thoracic 9 (AAT9)
Aortic aneurysm, familial thoracic type 3
Aortic aneurysm, familial thoracic type 4
Aortic aneurysm, familial thoracic type 5
Aortic aneurysm, familial thoracic type 6
Aortic aneurysm, familial thoracic type 7
Aortic aneurysm, familial thoracic type 8
Aortic aneurysm, familial thoracic, MAT2A related
Aortic valve disease 1 (AOVD1)
Aortic valve disease type 1
Aortic valve disease type 2
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
AOX1
AP1B1
AP1G1
AP1G2
AP1M1
AP1M2
AP1S1
AP1S2
AP2A1
AP2A2
AP2B1
AP2M1
AP2S1
AP3B1
AP3B2
AP3D1
AP3M1
AP3M2
AP3S1
AP4B1
AP4E1
AP4M1
AP4S1
AP5B1
AP5M1
AP5S1
AP5Z1
APAF1
APBA1
APBA2
APBA3
APBB1
APBB2
APBB3
APC
APC Gene Analysis
APC-Associated Polyposis Conditions
APC-Associated Polyposis Conditions Test
APC2
APCDD1
APCDD1L
APCS
APEH
Apert Syndrome
APEX1
APH1A
APH1B
API5
APITD1
Aplasia Cutis Congenita
Aplastic anemia
Aplastic anemia, SBDS related
APLNR
APLP1
APMAP
APOA1
APOA1BP
APOA2
APOA4
APOA5
APOB
APOB Polymorphism Detection and Gene Sequencing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
APOBR
APOC1
APOC2
APOC3
APOC4
APOD
APOE
APOF
APOH
APOL1
APOL2
APOL3
APOL4
APOL5
APOL6
Apolipoprotein C-II Deficiency
APOM
APP
APP - Select Exon Sequencing
Apparent mineralocorticoid excess
APPBP2
APPL1
APPL2
APRT
APTX
APTX-Related Coenzyme Q10 Deficiency Test
AQP1
AQP10
AQP2
AQP3
AQP4
AQP5
AQP7
AQP8
AQP9
AR
ARAF
ARAP1
ARAP2
ARAP3
ARC
ARCN1
AREL1
ARF4
ARF6
ARFGAP1
ARFGAP2
ARFGAP3
ARFGEF1
ARFGEF2
ARFGEF3
ARFIP1
ARFIP2
ARFRP1
ARG1
ARG1 Gene Sequencing
ARG1 Sequence and Deletion/Duplication Analysis
ARG2
ARGFX
Arginase deficiency
Arginase Deficiency Test
Arginine-glycine amidinotransferase deficiency
Argininosuccinate Lyase Deficiency Test
Argininosuccinate Lyase Deficiency: ASL Gene Sequencing
Argininosuccinic aciduria
ARGLU1
ARHGAP1
ARHGAP11A
ARHGAP11B
ARHGAP12
ARHGAP15
ARHGAP17
ARHGAP19
ARHGAP20
ARHGAP21
ARHGAP22
ARHGAP24
ARHGAP25
ARHGAP26
ARHGAP27
ARHGAP28
ARHGAP29
ARHGAP30
ARHGAP31
ARHGAP32
ARHGAP33
ARHGAP35
ARHGAP39
ARHGAP40
ARHGAP42
ARHGAP44
ARHGAP5
ARHGAP6
ARHGAP8
ARHGAP9
ARHGDIA
ARHGDIB
ARHGEF1
ARHGEF10
ARHGEF10L
ARHGEF11
ARHGEF12
ARHGEF15
ARHGEF16
ARHGEF17
ARHGEF18
ARHGEF19
ARHGEF2
ARHGEF25
ARHGEF26
ARHGEF28
ARHGEF3
ARHGEF33
ARHGEF37
ARHGEF38
ARHGEF39
ARHGEF4
ARHGEF40
ARHGEF6
ARHGEF7
ARHGEF9
ARHGEF9-related Hereditary Hyperekplexia: ARHGEF9 Gene Sequencing
ARID1A
ARID1B
ARID2
ARID3B
ARID4A
ARID4B
ARID5A
ARID5B
ARIH1
ARIH2
ARL1
ARL11
ARL13A
ARL13B
ARL13B Gene Sequencing
ARL14
ARL14EP
ARL14EPL
ARL15
ARL16
ARL2
ARL2BP
ARL3
ARL4A
ARL4D
ARL5B
ARL5C
ARL6
ARL6IP1
ARL6IP5
ARL8A
ARL8B
ARL9
ARMC12
ARMC2
ARMC3
ARMC4
ARMC5
ARMC6
ARMC7
ARMC8
ARMC9
ARMCX1
ARMCX2
ARMCX4
ARMCX5
ARMCX5-GPRASP2
ARMS2
ARMT1
ARNT
ARNT2
ARNTL
Aromatase deficiency
Aromatase Deficiency (CYP19A1 Sequencing)
Aromatic L-amino acid decarboxylase deficiency
ARPC1A
ARPC1B
ARPC2
ARPC3
ARPC4
ARPC4-TTLL3
ARPIN
ARPP19
ARPP21
ARR3
ARRB1
ARRB2
ARRDC1
ARRDC3
ARRDC4
ARRDC5
Arrhythmia (21 Gene) Panel
Arrhythmia NGS Panel
Arrhythmia Panel
Arrhythmia, hereditary panel
Arrhythmias: Sequencing Panel
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
Arrhythmogenic right ventricular cardiomyopathy panel
Arrhythmogenic right ventricular cardiomyopathy type 1
Arrhythmogenic right ventricular cardiomyopathy type 10
Arrhythmogenic right ventricular cardiomyopathy type 11
Arrhythmogenic right ventricular cardiomyopathy type 12
Arrhythmogenic right ventricular cardiomyopathy type 5
Arrhythmogenic right ventricular cardiomyopathy type 8
Arrhythmogenic right ventricular cardiomyopathy type 9
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel
ARSA
ARSA Gene Sequencing
ARSB
ARSB Gene Sequencing
ARSE
ARSE Gene Sequencing and Del/Dup (Females)
ARSF
ARSG
ARSI
ARSJ
ARSK
ART1
ART3
ART4
ART5
Arterial calcification type 1, generalized, infantile
Arterial calcification type 2, generalized, infantile
Arterial calcification, generalized, of infancy NGS panel
Arterial calcification, generalized, of infancy, 1 (GACI1)
Arterial calcification, generalized, of infancy, 2 (GACI2)
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome (ATS)
Arthrogryposes Panel
Arthrogryposis Multiplex Congenita, Distal, Type 1 Test
Arthrogryposis panel
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 1B
Arthrogryposis, distal, type 2A
Arthrogryposis, distal, type 2B
Arthrogryposis, Distal, Type 2B: TNNI2 Gene Sequencing
Arthrogryposis, distal, type 3
Arthrogryposis, distal, type 5
Arthrogryposis, distal, type 5D
Arthrogryposis, distal, type 7
Arthrogryposis, distal, type 9
Arthrogryposis, mental retardation, and seizures
Arthrogryposis, renal dysfunction, and cholestasis type 1
Arthrogryposis, renal dysfunction, and cholestasis type 2
Arthropathy, progressive pseudorheumatoid, of childhood
Arts syndrome
ARV1
ARVCF
ARX
ARX gene (deletion/duplication analysis)
ARX Related Disorders Comprehensive
ARX-Related Disorders Test
ARX-related Disorders: ARX Gene Sequencing
AS3MT
ASAH1
ASAP2
ASAP3
ASB1
ASB10
ASB12
ASB13
ASB14
ASB15
ASB16
ASB17
ASB2
ASB3
ASB4
ASB5
ASB7
ASB8
ASCC1
ASCC2
ASCC3
ASCL1
ASCL3
ASCL4
ASF1A
ASF1B
ASGR1
ASGR2
ASH1L
ASH2L
Ashkenazi Jewish Carrier Multi-Gene Panel
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel
Ashkenazi Jewish: BRCA Targeted Mutation Panel
ASIC1
ASIC3
ASIC4
ASIC5
ASIP
ASL
ASL Gene Sequencing
ASNA1
ASNS
ASNSD1
ASPA
ASPA Gene Sequencing and Del/Dup
Asparaginesynthetase deficiency
Aspartylglucosaminuria
Aspartylglucosaminuria: AGA Gene Sequencing
Aspartylglycosaminuria Test
Asperger syndrome susceptibility X-linked type 2
ASPG
ASPH
ASPHD2
ASPM
ASPN
ASPRV1
ASPSCR1
ASRGL1
ASS1
ASTE1
ASTL
ASTN1
ASTN2
ASUN
ASXL1
ASXL2
ASXL3
ATAD2
ATAD2B
ATAD3C
ATAD5
ATAT1
Ataxia and Differential Diagnoses Panel
Ataxia and muscle hypotonia
Ataxia Panel
Ataxia Research
Ataxia Telangiectasia
Ataxia telangiectasia like disorder
Ataxia with Oculomotor Apraxia 1 Test
Ataxia with Oculomotor Apraxia 2 Test
Ataxia with Oculomotor Apraxia Type 1/2 NGS Panel
Ataxia with Oculomotor Apraxia Type 2: SETX Gene Sequencing
Ataxia, autosomal dominant( 26 Genes,NDD25)
Ataxia, autosomal recessive and X-linked Panel
Ataxia, posterior column, with retinitis pigmentosa
Ataxia-oculomotor apraxia 1 (AOA1, deletion/duplication analysis of APTX gene)
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 2
Ataxia-oculomotor apraxia type 3
Ataxia-oculomotor apraxia type 4
Ataxia-telangiectasia
Ataxia-telangiectasia (deletion/duplication analysis of ATM gene)
Ataxia-Telangiectasia Test
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis)
ATCAY
ATE1
Atelosteogenesis type 1
Atelosteogenesis type 3
Atelosteogenesis, type I / III (AOI / AOIII)
Atelosteogenesis, type II (AOII)
ATF1
ATF2
ATF3
ATF4
ATF5
ATF6
ATF6B
ATF7
ATF7IP
ATF7IP2
ATG10
ATG101
ATG13
ATG14
ATG16L1
ATG16L2
ATG2A
ATG2B
ATG4B
ATG5
ATG7
ATG9A
Athabaskan brainstem dysgenesis syndrome
ATHL1
ATIC
ATL1
ATL1/SPG3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
ATL2
ATL3
ATM
ATN1
ATOH7
ATOH8
ATOX1
ATP10A
ATP10B
ATP10D
ATP11A
ATP11B
ATP12A
ATP13A1
ATP13A2
ATP13A3
ATP13A4
ATP13A5
ATP1A1
ATP1A2
ATP1A2 Gene Sequencing
ATP1A2-Related Alternating Hemiplegia of Childhood Test
ATP1A3
ATP1A4
ATP1B1
ATP1B2
ATP1B3
ATP23
ATP2A1
ATP2A2
ATP2A3
ATP2B1
ATP2B2
ATP2B3
ATP2B4
ATP2C1
ATP2C2
ATP4A
ATP4B
ATP5A1
ATP5A1 Sequence and Deletion/Duplication Analysis
ATP5B
ATP5C1
ATP5E
ATP5E Sequence and Deletion/Duplication Analysis
ATP5F1
ATP5G1
ATP5G2
ATP5G3
ATP5I
ATP5J
ATP5J2
ATP5J2-PTCD1
ATP5L2
ATP5O
ATP5S
ATP5SL
ATP6AP1
ATP6AP1L
ATP6AP2
ATP6V0A1
ATP6V0A2
ATP6V0A2 Sequence analysis
ATP6V0A4
ATP6V0B
ATP6V0C
ATP6V0D1
ATP6V0E1
ATP6V1A
ATP6V1B1
ATP6V1B2
ATP6V1C1
ATP6V1C2
ATP6V1D
ATP6V1E1
ATP6V1E2
ATP6V1F
ATP6V1G1
ATP6V1G2
ATP6V1G3
ATP6V1H
ATP7A
ATP7A Sequence and Deletion/Duplication Analysis
ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication
ATP7A-Related Copper Transport Disorders Test
ATP7B
ATP7B mutation screen (Wilson disease)
ATP7B Sequence and Deletion/Duplication Analysis
ATP8A1
ATP8A2
ATP8B1
ATP8B1 Gene Sequencing
ATP8B1 Sequence and Deletion/Duplication Analysis
ATP8B1-Related Intrahepatic Cholestasis Test
ATP8B2
ATP8B3
ATP8B4
ATP9B
ATPAF2
ATPAF2 Sequence and Deletion/Duplication Analysis
ATPIF1
ATR
ATRAID
Atrial Fibrillation NGS Panel
Atrial Fibrillation Panel
Atrial fibrillation type 10
Atrial fibrillation type 11
Atrial fibrillation type 12
Atrial fibrillation type 3
Atrial fibrillation type 4
Atrial fibrillation type 6
Atrial fibrillation type 7
Atrial septal defect type 2
Atrial septal defect type 3
Atrial septal defect type 4
Atrial septal defect type 5
Atrial septal defect type 8
Atrial septal defect type 9
Atrial septal defect with atrioventricular conduction defects
Atrichia with papular lesions
Atrioventricular septal defect type 5
Atrioventricular septal defect, partial with heterotaxy syndrome
ATRIP
ATRN
ATRNL1
ATRX
Attention deficit-hyperactivity disorder
ATXN1
ATXN1 Test
ATXN10
ATXN1L
ATXN2
ATXN2L
ATXN3
ATXN3L
ATXN7
ATXN7L1
ATXN7L2
ATXN7L3
ATXN7L3B
ATXN8OS
Atypical hemolytic uremic syndrome panel
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Atypical Mycobacterial infection
Atypical Mycobacterial infection, IL12RB2 related
Atypical Parkinson Syndrome Panel
Atypical Rett Panel (MECP2, ARX, CDKL5 sequence and deletion/duplication analysis)
Atypical Rett Syndrome/X-linked Infantile Spasms (CDKL5 sequence and deletion/duplication analysis)
Atypical Rett Syndrome: CDKL5 Gene Sequencing
Atypical Werner Syndrome
Atypical Werner Syndrome Test
Auditory neuropathy, autosomal dominant
AUH
AUH Gene Sequencing
AUH Sequence and Deletion/Duplication Analysis
AUNIP
AUP1
Auriculocondylar syndrome type 1
Auriculocondylar syndrome type 2
AURKA
AURKB
AURKC
Autism NGS Panel
Autism spectrum disorder
Autism Spectrum Disorders Panel
Autism Spectrum Disorders: Gene Panel
Autism spectrum, MXRA5 related
Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related
Autism susceptibility, X-linked type 1
Autism susceptibility, X-linked type 17
Autism susceptibility, X-linked type 2
Autism susceptibility, X-linked type 3
Autism susceptibility, X-linked type 4
Autism susceptibility, X-linked type 5
Autism, ATP1B4 related
Autism, AVPR1A related
Autism, CELF6 related
Autism, FAAH2 related
Autism, FCRL6 related
Autism, GYG2 related
Autism, IQCE related
Autism, MBD1 related
Autism, NTNG1 related
Autism, OR13H1 related
Autism, OXTR related
Autism, RNF128 related
Autism, RRM1 related
Autism, SETD2 related
Autism, UNC13B related
Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related
Autoimmune lymphoproliferative syndrome panel
Autoimmune lymphoproliferative syndrome type 1A
Autoimmune lymphoproliferative syndrome type 1B
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome type 3
Autoimmune polyendocrinopathy syndrome type 1
Autoinflammation, lipodystroph and dermatosis syndrome
Autoinflammatory Syndrome Panel
Autosomal Dominant Mental Retardation 1: MBD5 Gene Sequencing
Autosomal Dominant Optic Atrophy (Kjer Type): OPA1 Gene Sequencing
Autosomal Dominant Optic Atrophy: OPA3 Gene Sequencing
Autosomal Dominant Polycystic Kidney Disease: PKD2 Gene Sequencing
Autosomal Recessive Polycystic Kidney Disease: PKHD1 Gene Sequencing
AUTS2
AUTS2 - Gene sequencing and CNV analysis
Avascular necrosis of femoral head, primary (ANFH)
Avascular necrosis of the femoral head, primary
AVIL
AVL9
AVP
AVPI1
AVPR1A
AVPR1B
AVPR2
AWAT1
AWAT2
AXDND1
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
AXIN1
AXIN2
AXIN2 Gene, Full Gene Analysis
AXL
Axonal CMT Panel
AZGP1
AZI2
AZIN1
AZIN2
AZU1
 

B 

B-cell expansion with NFKB and T-cell anergy
B-negative SCID Panel
B-positive SCID Panel
B2M
B3GALNT1
B3GALT2
B3GALT4
B3GALT6
B3GALTL
B3GAT1
B3GAT2
B3GAT3
B3GLCT
B3GNT2
B3GNT3
B3GNT4
B3GNT6
B3GNT7
B3GNT8
B3GNTL1
B4GALNT3
B4GALT1
B4GALT2
B4GALT3
B4GALT4
B4GALT5
B4GALT6
B4GALT7
B4GALT7 Sequence and Deletion/Duplication Analysis
B4GAT1
B9D1
B9D1 (MKSR1) Gene Sequencing
B9D2
B9D2 (MKSR2) Gene Sequencing
BAALC
BAAT
BABAM1
Baby Genes Newborn Screening Panel
BACE1
BACH1
BACH2
BAG3
BAG4
BAG5
BAG6
BAGE2
BAHCC1
BAHD1
BAIAP2
BAIAP3
Bainbridge-Ropers syndrome
BAK1
Baller-Gerold syndrome
BAMBI
Bamforth Lazarus Syndrome: FOXE1 Gene Sequencing
Band-like calcification with simplified gyration and polymicrogyria
BANF1
BANF2
BANK1
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
BANP
BAP1
BAP1 Tumor Predisposition Syndrome
Baraitser-Winter syndrome type 1
Baraitser-Winter syndrome type 2
Barber-Say Syndrome (BBRSAY)
BARD1
Bardet Biedl panel
Bardet-Biedl Syndrome (3 Genes Sequenced)
Bardet-Biedl Syndrome 1 (BBS1 Sequencing)
Bardet-Biedl Syndrome 10 (BBS10 Sequencing)
Bardet-Biedl Syndrome 2 (BBS2 Sequencing)
Bardet-Biedl Syndrome NGS Panel
Bardet-Biedl Syndrome Panel
Bardet-Biedl syndrome type 1
Bardet-Biedl syndrome type 10
Bardet-Biedl syndrome type 11
Bardet-Biedl syndrome type 12
Bardet-Biedl syndrome type 13
Bardet-Biedl syndrome type 14
Bardet-Biedl syndrome type 15
Bardet-Biedl syndrome type 2
Bardet-Biedl syndrome type 3
Bardet-Biedl syndrome type 4
Bardet-Biedl syndrome type 5
Bardet-Biedl syndrome type 6
Bardet-Biedl syndrome type 7
Bardet-Biedl syndrome type 8
Bardet-Biedl syndrome type 9
Bardet-Biedl syndrome, LZTFL1 related
Bardet-Biedl syndrome, modifier of, CCDC28B related
Bardet-Biedl Syndrome: Sequencing Panel
Bare lymphocyte syndrome, type 2
Bare lymphocyte syndrome, type 2, complementation group A
BARHL1
BARHL2
Barth syndrome
Bartter syndrome
Bartter Syndrome panel
Bartter syndrome type 1
Bartter syndrome type 2
Bartter syndrome type 3
Bartter syndrome type 4a
Bartter syndrome type 4b
BARX2
Basal cell nevus syndrome
Basal Cell Nevus Syndrome (BCNS) - PTCH1
Basal Cell Nevus Syndrome (BCNS) - PTCH2
Basal Cell Nevus Syndrome (BCNS) - SUFU
Basal cell nevus syndrome due to germline PTCH2 mutation
Basal Cell Nevus Syndrome NGS panel
Basal Ganglia Calcification NGS panel
Basal ganglia calcification type 3
Basal ganglia calcification type 4
Basal ganglia calcification type 5, idiopathic
Basal ganglia calcification type 6, idiopathic
Basic Fibrosis Panel (12 Genes)
BASP1
BATF
BATF2
Batten Disease, Neuronal Ceroid Lipofuscinosis 3 Test
BAX
BAZ1A
BAZ1B
BAZ2A
BAZ2B
BBOF1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BBX
BCAM
BCAN
BCAP29
BCAP31
BCAR3
BCAS1
BCAS2
BCAS3
BCAT1
BCAT2
BCCIP
BCHE
BCKDHA
BCKDHA Gene Sequencing
BCKDHA Sequence and Deletion/Duplication Analysis
BCKDHB
BCKDHB Gene Sequencing
BCKDHB Sequence and Deletion/Duplication Analysis
BCKDK
BCL10
BCL11A
BCL2
BCL2A1
BCL2L10
BCL2L11
BCL2L12
BCL2L13
BCL2L14
BCL2L2
BCL2L2-PABPN1
BCL6
BCL6B
BCL7A
BCL7C
BCL9
BCL9L
BCLAF1
BCO1
BCO2
BCOR
BCOR Gene Sequencing and Del/Dup
BCOR Select Exons Sequencing and Del/Dup
BCOR-related Disorders: BCOR Gene Sequencing
BCORL1
BCR
BCS1L
BCS1L Sequence analysis
BCS1L Sequence and Deletion/Duplication Analysis
BDH1
BDH2
BDKRB1
BDKRB2
BDNF
BDP1
Beals syndrome
BEAN1
Beare-Stevenson cutis gyrata syndrome
Becker Muscular Dystrophy
Beckwith Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
Beckwith-Wiedemann syndrome (methylation and deletion/duplication analysis of 11p15.5 region)
Beckwith-Wiedemann Syndrome Test
BECN1
BEND3
BEND7
Benign Familial Infantile Seizures 2 Test
Benign Familial Neonatal Infantile Seizures Test
Benign Hereditary Chorea
Bent bone dysplasia syndrome
Bent Bone Dysplasia Syndrome (BBDS)
Berardinelli-Seip Congenital Lipodystrophy
Berardinelli-Seip Congenital Lipodystrophy Type 2 Test
Bernard Soulier syndrome type A1
Bernard Soulier syndrome type A2
Bernard Soulier syndrome type B
Bernard Soulier syndrome type C
Bernard-Soulier Syndrome NGS Panel
BEST1
BEST1 Sequence and Deletion/Duplication Analysis
BEST1-related Disorders: BEST1 Gene Sequencing
BEST2
BEST3
Bestrophinopathy
BET1
BET1L
Beta Globin (HBB) Sequencing and Deletion/Duplication
Beta-Mannosidosis: MANBA Gene Sequencing
Beta-mannosiodosis Test
Beta-thalassaemia gene mapping
Beta-Thalassemia
Beta-Thalassemia (HBB)
Beta-Thalassemia Test
Beta-ureidopropionase deficiency
Bethlem myopathy
Bethlem myopathy and Ullrich congenital muscular dystrophy NGS panel
Bethlem myopathy panel
Bethlem myopathy type 1
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A3 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel
BEX1
BEX2
BEX4
BFAR
BFSP1
BFSP2
BGLAP
BGN
BHLHA15
BHLHA9
BHLHB9
BHLHE40
BHLHE41
BHMT
BHMT2
BICC1
BICD1
BICD2
Bicuspid aortic valve
BID
Bietti crystalline corneoretinal dystrophy
Bifid nose
BIK
Bile acid synthesis defect type 2, congenital
Bile acid synthesis defect type 3, congenital
Bile acid synthesis defect type 4, congenital
BIN1
BIN2
BIN3
Bioinformatics Analysis
Bioinformatics and Report of the NGS panel remaining genes
Biotinidase deficiency
Biotinidase Deficiency Test
Biotinidase Deficiency: BTD Gene Sequencing
BIRC2
BIRC3
BIRC5
BIRC6
BIRC7
BIRC8
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube Syndrome (BHD)
Birt-Hogg-Dube Syndrome (FLCN)
Birt-Hogg-Dube Syndrome Test
Birt-Hogg-Dube Syndrome: FLCN Gene Sequencing
BIVM
BIVM-ERCC5
Bjornstad syndrome
Blau syndrome
BLCAP
Bleeding disorder, platelet-type 15
Bleeding disorder, platelet-type 17
Bleeding disorder, platelet-type 8
Bleeding Disorder/Coagulopathy Panel
Blepharophimosis, epicanthus inversus and ptosis, types 1 and 2 (BPES 1 and 2, deletion/duplication analysis of FOXL2 gene)
Blepharophimosis, epicanthus inversus, and ptosis
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 sequence and deletion/duplication analysis)
Blepharophimosis-ptosis-intellectual disability syndrome
BLID
BLK
BLM
BLMH
BLNK
BLOC1S1
BLOC1S2
BLOC1S3
BLOC1S6
Bloom syndrome
Bloom Syndrome (BLM Sequencing)
Bloom Syndrome Panel
Bloom Syndrome: BLM Gene Sequencing
Blue-Mono-Cone-Monochromatic (BCM) Panel
BLVRA
BLVRB
BLZF1
BMF
BMI1
BMP1
BMP10
BMP15
BMP2
BMP2K
BMP3
BMP4
BMP5
BMP7
BMPER
BMPR1A
BMPR1A Gene Sequencing and Del/Dup
BMPR1A, SMAD4 Gene Sequencing and Del/Dup
BMPR1A-Related Juvenile Polyposis Test
BMPR1A Gene, Full Gene Analysis
BMPR1B
BMPR2
BMPR2 - Gene Sequencing and CNV analysis
BMPR2 Gene Sequencing and Del/Dup
BMS1
BNC1
BNC2
BNIP2
BNIP3L
BNIPL
BOC
BOD1
BOD1L1
BOD1L2
Bohring-Opitz syndrome
BOLA1
BOLA3
BOLL
Bone marrow failure panel
Bone Marrow Failure Syndrome Panel
Bone marrow failure syndrome type 1
Bone Marrow for Karyotyping Leukemia
Bone mineral density QTL18, osteoporosis
Boomerang dysplasia (BD)
BORA
BORCS5
BORCS6
BORCS7
BORCS8
Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann Syndrome Test
Borjeson-Forssman-Lehmann Syndrome: PHF6 Gene Sequencing
Bothnia retinal dystrophy
BPGM
BPI
BPIFA1
BPIFA2
BPIFA3
BPIFB1
BPIFB2
BPIFB3
BPIFB4
BPIFB6
BPIFC
BPNT1
BPTF
Brachydactyly / Syndactyly Panel
Brachydactyly type A2
Brachydactyly type B1
Brachydactyly type E1
Brachydactyly-mental retardation syndrome
Brachydactyly-syndactyly syndrome
Brachyolmia type 3
Bradyopsia
BRAF
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
BRAF Gene Sequencing
BRAF-related Disorders: BRAF Gene Sequencing
Brain iron accumulation syndromes panel
Brain Malformations: Sequencing Panel
Brain Small Vessel Disease with or without Ocular Anomalies (BSVD)
Brain, CNS, and PNS Cancer: Sequencing Panel
BrainTumorNext
Branched-chain aminotransferase 1 deficiency
Branched-chain aminotransferase 2 deficiency
Branched-chain ketoacid dehydrogenase kinase deficiency
Branchio-Oto-Renal (BOR) Syndrome Panel
Branchio-Oto-Renal Syndrome
Branchiooculofacial syndrome
Branchiooculofacial syndrome (BOFS)
Branchiooculofacial Syndrome Test
Branchiootic syndrome type 1
Branchiootorenal Spectrum Disorders NGS Panel
Branchiootorenal Spectrum Disorders Test
Branchiootorenal syndrome type 1
Branchiootorenal syndrome type 2
BRAP
BRAT1
BRCA - breast cancer, familial
BRCA - pancreatic cancer
BRCA Hereditary Breast and Ovarian Cancer
BRCA Hereditary Breast and Ovarian Cancer Test
BRCA1
BRCA1 and BRCA2
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
BRCA1 and BRCA2 Mutation Analysis
BRCA1 Gene Analysis
BRCA1 Gene Sequencing and Del/Dup
BRCA1 Hereditary Breast and Ovarian Cancer
BRCA1 Hereditary Breast and Ovarian Cancer Test
BRCA1 Mutation and Del/Dup Analysis
BRCA1, BRCA2 panel
BRCA1, BRCA2, and PALB2 Mutation Analysis
BRCA1, BRCA2, and TP53 Mutation Analysis
BRCA1/ BRCA2 Full Gene (Includes Del/Dup)
BRCA1/2
BRCA1/2 Comprehensive Analysis
BRCA1/2 Mutation and Del/Dup Analysis
BRCA1/2 Panel
BRCA1/2 Sequencing
BRCA1/2 Sequencing and Del/Dup analysis
BRCA1/BRCA2 Full Gene Analysis
BRCA2
BRCA2 Gene Analysis
BRCA2 Gene Sequencing and Del/Dup
BRCA2 Hereditary Breast and Ovarian Cancer
BRCA2 Hereditary Breast and Ovarian Cancer Test
BRCA2 Mutation and Del/Dup Analysis
BRCA2-Related Fanconi Anemia Test
BRCAPlus
BRCAPlus-Expanded
BRCATrue
BRCC3
BRD1
BRD2
BRD3
BRD7
BRD8
BRD9
BRDT
BRE
Breast and Ovarian Cancer Test
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication
Breast Cancer Comprehensive Panel
Breast Cancer Focus Panel
Breast Cancer High Risk Panel
Breast Cancer High Risk Panel and PALB2
Breast Cancer High/Moderate Risk Panel
Breast cancer, male, susceptibility to
Breast cancer, RINT1 related
Breast cancer, susceptibility to
Breast ovarian cancer panel
Breast ovarian cancer panel PLUS
Breast-ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, type 4
Breast-ovarian cancer, familial, type 2
Breast/Ovarian Cancer Panel
BreastNext
BreastTrue
BRF1
BRF2
BRINP1
BRINP2
BRINP3
BRIP1
Brittle cornea syndrome
Brittle cornea syndrome 1 (BCS1)
Brittle cornea syndrome 2 (BCS2)
Brittle cornea syndrome NGS panel
BRIX1
BRK1
BRMS1
BRMS1L
Brody myopathy
Brody Myopathy: ATP2A1 Gene Sequencing
Bronchiectasis NGS Panel
Bronchiectasis Panel
Bronchiectasis Panel (17 Genes)
Bronchiectasis with or without elevated sweat chloride type 2
Bronchiectasis: Sequencing Panel
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome type 2
BRPF1
BRPF3
BRS3
BRSK2
Bruck syndrome 2 (BRKS2)
Brugada Syndrome 1
Brugada Syndrome 5 Test
Brugada Syndrome Multi-Gene Panel
Brugada Syndrome NGS Panel
Brugada syndrome panel
Brugada syndrome type 1
Brugada Syndrome Type 1 Test
Brugada syndrome type 2
Brugada syndrome type 3
Brugada syndrome type 4
Brugada syndrome type 5
Brugada syndrome type 6
Brugada syndrome type 7
Brugada syndrome type 8
Brugada syndrome type 9
Brugada Syndrome: Sequencing Panel
Brunner syndrome
Brunner Syndrome: MAOA Gene Sequencing
Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry
Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry
BRWD1
BRWD3
BSCL2
BSCL2-Related Neurologic Disorders/Seipinopathy Test
BSDC1
BSG
BSN
BSND
BSPH1
BST1
BST2
BTAF1
BTBD10
BTBD16
BTBD17
BTBD18
BTBD19
BTBD3
BTBD6
BTBD7
BTBD8
BTBD9
BTC
BTD
BTD Gene Sequencing
BTD Sequence and Deletion/Duplication Analysis
BTF3L4
BTG2
BTG4
BTK
BTK Gene Sequencing and Del/Dup
BTLA
BTN1A1
BTN2A1
BTN2A2
BTN3A1
BTN3A2
BTN3A3
BTNL10
BTNL2
BTNL3
BTNL8
BTNL9
BTRC
BUB1
BUB1B
BUD13
BUD31
Budd-Chiari syndrome
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS)
Butyrylcholinesterase deficiency
BVES
BZRAP1
BZW1
BZW2
 

C 

C syndrome
C10orf10
C10orf107
C10orf11
C10orf113
C10orf12
C10orf120
C10orf128
C10orf131
C10orf2
C10orf2 (Twinkle) Sequence analysis
C10orf2 Sequence and Deletion/Duplication Analysis
C10orf2-related mitochondrial DNA depletion syndrome test
C10orf25
C10orf35
C10orf53
C10orf54
C10orf62
C10orf67
C10orf71
C10orf76
C10orf82
C10orf88
C10orf90
C10orf91
C10orf99
C11orf1
C11orf16
C11orf21
C11orf24
C11orf30
C11orf40
C11orf42
C11orf44
C11orf45
C11orf52
C11orf53
C11orf54
C11orf57
C11orf58
C11orf63
C11orf65
C11orf70
C11orf71
C11orf73
C11orf74
C11orf84
C11orf85
C11orf86
C11orf87
C11orf88
C11orf94
C11orf98
C12orf10
C12orf29
C12orf40
C12orf42
C12orf43
C12orf45
C12orf50
C12orf54
C12orf56
C12orf57
C12orf60
C12ORF65
C12orf65 Sequence and Del/Dup Analysis
C12orf66
C12orf71
C12orf74
C12orf76
C12orf77
C12orf80
C14orf1
C14orf105
C14orf119
C14orf132
C14orf142
C14orf159
C14orf166
C14orf169
C14orf177
C14orf178
C14orf2
C14orf37
C14orf79
C14orf80
C14orf93
C15orf32
C15orf39
C15orf40
C15orf41
C15orf43
C15orf48
C15orf53
C15orf54
C15orf56
C15orf57
C15orf59
C15orf61
C15orf62
C16orf45
C16orf46
C16orf47
C16orf58
C16orf59
C16orf62
C16orf70
C16orf71
C16orf72
C16orf78
C16orf82
C16orf86
C16orf87
C16orf90
C16orf91
C16orf92
C16orf96
C16orf97
C17orf100
C17orf102
C17orf104
C17orf105
C17orf112
C17orf47
C17orf50
C17orf51
C17orf53
C17orf58
C17orf62
C17orf64
C17orf67
C17orf74
C17orf75
C17orf78
C17orf80
C17orf97
C17orf98
C17orf99
C18orf21
C18orf25
C18orf32
C18orf42
C18orf54
C18orf63
C18orf8
C19orf12
C19orf18
C19orf25
C19orf33
C19orf38
C19orf44
C19orf45
C19orf47
C19orf53
C19orf57
C19orf60
C19orf66
C19orf71
C19orf73
C19orf80
C1GALT1
C1GALT1C1
C1GALT1C1L
C1orf100
C1orf101
C1orf105
C1orf109
C1orf111
C1orf112
C1orf116
C1orf123
C1orf127
C1orf131
C1orf137
C1orf141
C1orf146
C1orf158
C1orf159
C1orf162
C1orf168
C1orf174
C1orf186
C1orf189
C1orf194
C1orf195
C1orf204
C1orf21
C1orf210
C1orf216
C1orf226
C1orf228
C1orf234
C1orf35
C1orf43
C1orf50
C1orf52
C1orf54
C1orf56
C1orf61
C1orf64
C1orf68
C1orf74
C1orf87
C1orf94
C1q deficiency
C1QA
C1QB
C1QBP
C1QC
C1QL2
C1QTNF1
C1QTNF3
C1QTNF5
C1QTNF6
C1QTNF7
C1QTNF9
C1QTNF9B
C1QTNF9B-AS1
C1R
C1RL
C1S
C2
C2 deficiency
C20orf141
C20orf144
C20orf173
C20orf194
C20orf195
C20orf196
C20orf197
C20orf202
C20orf24
C20orf27
C20orf78
C20orf85
C20orf96
C21orf140
C21orf2
C21orf33
C21orf59
C21orf91
C22orf15
C22orf24
C22orf29
C22orf31
C22orf39
C22orf42
C22orf46
C2CD2L
C2CD3
C2CD5
C2orf16
C2orf40
C2orf42
C2orf44
C2orf48
C2orf49
C2orf57
C2orf61
C2orf66
C2orf68
C2orf69
C2orf70
C2orf71
C2orf71 Sequence and Deletion/Duplication Analysis
C2orf73
C2orf74
C2orf76
C2orf78
C2orf80
C2orf81
C2orf83
C2orf88
C2orf91
C3
C3 deficiency
C3 Sequence analysis
C3AR1
C3orf14
C3orf17
C3orf18
C3orf20
C3orf22
C3orf30
C3orf33
C3orf35
C3orf36
C3orf38
C3orf52
C3orf56
C3orf58
C3orf62
C3orf67
C3orf70
C3orf84
C4A
C4BPA
C4BPB
C4orf17
C4orf19
C4orf22
C4orf26
C4orf3
C4orf33
C4orf36
C4orf45
C4orf47
C4orf51
C5
C5 deficiency
C5AR1
C5AR2
C5orf15
C5orf22
C5orf24
C5orf28
C5orf30
C5orf34
C5orf38
C5orf42
C5orf45
C5orf46
C5orf51
C5orf52
C5orf58
C5orf60
C5orf63
C5orf64
C5orf66
C6
C6orf1
C6orf10
C6orf106
C6orf118
C6orf120
C6orf141
C6orf15
C6orf163
C6orf201
C6orf203
C6orf222
C6orf229
C6orf25
C6orf47
C6orf48
C6orf58
C6orf62
C6orf89
C7
C7 deficiency
C7orf25
C7orf26
C7orf31
C7orf33
C7orf43
C7orf49
C7orf55
C7orf57
C7orf60
C7orf61
C7orf62
C7orf65
C7orf66
C7orf71
C7orf72
C7orf73
C7orf76
C7orf77
C8A
C8B
C8G
C8ofr37 Sequence and Deletion/Duplication Analysis
C8orf22
C8orf31
C8orf33
C8orf37
C8orf4
C8orf44
C8orf44-SGK3
C8orf48
C8orf58
C8orf59
C8orf74
C8orf86
C8orf87
C8orf89
C9
C9orf106
C9orf114
C9orf116
C9orf129
C9orf131
C9orf139
C9orf163
C9orf170
C9orf172
C9orf24
C9orf3
C9orf43
C9orf47
C9orf57
C9orf62
C9orf64
C9orf66
C9orf69
C9orf72
C9ORF72 Repeat Expansion
C9orf72 Repeat Expansion Analysis
C9orf78
C9orf84
C9orf85
C9orf89
C9orf9
C9orf91
C9orf92
CA1
CA10
CA11
CA12
CA13
CA14
CA2
CA2 Sequence and Deletion/Duplication Analysis
CA3
CA4
CA4 Sequence and Deletion/Duplication Analysis
CA6
CA7
CA8
CA9
CAAP1
CAB39
CAB39L
CABC1 Sequence and Deletion/Duplication Analysis
CABIN1
CABP2
CABP4
CABP4 Sequence and Deletion/Duplication Analysis
CABS1
CABYR
CACFD1
CACHD1
CACNA1A
CACNA1A Gene Sequencing
CACNA1C
CACNA1C-related Disorders: CACNA1C Gene Sequencing
CACNA1D
CACNA1E
CACNA1F
CACNA1G
CACNA1H
CACNA1I
CACNA1S
CACNA2D1
CACNA2D3
CACNA2D4
CACNB1
CACNB2
CACNB3
CACNB4
CACNG1
CACNG2
CACNG3
CACNG4
CACNG5
CACNG7
CACTIN
CACUL1
CACYBP
CAD
CADASIL
CADASIL Test
CADM1
CADM2
CADPS
CADPS2
CAGE1
CALB1
CALB2
CALCA
CALCB
CALCOCO1
CALCOCO2
CALCR
CALCRL
CALD1
CALHM1
CALHM2
CALM1
CALM2
CALM3
CALML4
CALML5
CALML6
CALN1
CALR
CALR Mutations (analysis of exon 9) - Essential Thrombocythemia
CALR3
Calreticulin, Exon 9 Mutation Analysis
CALU
CAMK1
CAMK1G
CAMK2A
CAMK2D
CAMK2G
CAMK4
CAMKK1
CAMKK2
CAMKV
CAMLG
CAMP
Campomelic dysplasia
Campomelic dysplasia (CMPD)
Campomelic dysplasia (deletion/duplication analysis of SOX9 gene)
Camptodactyly, Tall Stature, and Hearing Loss Syndrome (CATSHL Syndrome)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CAMSAP1
CAMSAP2
CAMTA1
CAMTA2
Camurati-Engelmann disease
Canavan disease
Canavan Disease (ASPA Sequencing)
Canavan disease (deletion/duplication analysis on ASPA gene)
Canavan Disease Test
Cancer Exome sequencing (71 Mb)
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes
Cancer: Lynch Syndrome (Hereditary Non-Polyposis Colon Cancer) Multi-Gene Panel
CancerNext
CancerNext - Expanded
CAND1
CAND2
CANT1
Cantu Syndrome
Cantu Syndrome NGS Panel
Cantu Syndrome, KCNJ8-Related
CANX
CAP1
CAP2
CAPG
Capillary malformation arteriovenous malformation (CMAVM)
Capillary malformation-arteriovenous malformation
CAPN1
CAPN10
CAPN11
CAPN12
CAPN13
CAPN14
CAPN15
CAPN2
CAPN3
CAPN3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
CAPN5
CAPN7
CAPN8
CAPN9
CAPNS2
CAPOS syndrome
CAPRIN1
CAPRIN2
CAPS
CAPS2
CAPSL
CAPZA1
CAPZA2
CAPZA3
CAPZB
CARASIL
Carbamoylphosphate synthetase I deficiency
Carbamoylphosphate Synthetase I Deficiency Test
Carcinoid tumors, intestinal
CARD10
CARD11
CARD14
CARD16
CARD17
CARD18
CARD6
CARD8
CARD9
Cardiac valvular dysplasia, X-linked
Cardio-Facio-Cutaneous Syndrome NGS Panel
Cardio-Facio-Cutaneous Syndrome: BRAF gene sequence analysis
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous Syndrome Test
Cardiofaciocutaneous syndrome type 3
Cardiofaciocutaneous syndrome type 4
Cardiofaciocutaneous Syndrome, MAP2K2-related: MAP2K2 Gene Sequencing
Cardiomyopathy (41 Gene) Panel
Cardiomyopathy (Dilated) Multi-Gene Panel
Cardiomyopathy (General) Multi-Gene Panel
Cardiomyopathy (Hypertrophic) Multi-Gene Panel
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
Cardiomyopathy dilated panel
Cardiomyopathy hypertrophic panel
Cardiomyopathy Panel
Cardiomyopathy, dilated
Cardiomyopathy, dilated type 1
Cardiomyopathy, dilated type 1A
Cardiomyopathy, dilated type 1AA
Cardiomyopathy, dilated type 1BB
Cardiomyopathy, dilated type 1C
Cardiomyopathy, dilated type 1CC
Cardiomyopathy, dilated type 1D
Cardiomyopathy, dilated type 1DD
Cardiomyopathy, dilated type 1E
Cardiomyopathy, dilated type 1EE
Cardiomyopathy, dilated type 1GG
Cardiomyopathy, dilated type 1HH
Cardiomyopathy, dilated type 1I
Cardiomyopathy, dilated type 1J
Cardiomyopathy, dilated type 1KK
Cardiomyopathy, dilated type 1L
Cardiomyopathy, dilated type 1LL
Cardiomyopathy, dilated type 1M
Cardiomyopathy, dilated type 1N
Cardiomyopathy, dilated type 1O
Cardiomyopathy, dilated type 1P
Cardiomyopathy, dilated type 1R
Cardiomyopathy, dilated type 1S
Cardiomyopathy, dilated type 1T
Cardiomyopathy, dilated type 1U
Cardiomyopathy, dilated type 1V
Cardiomyopathy, dilated type 1W
Cardiomyopathy, dilated type 1X
Cardiomyopathy, dilated type 1Y
Cardiomyopathy, dilated type 1Z
Cardiomyopathy, dilated type 2A
Cardiomyopathy, dilated type 2B
Cardiomyopathy, dilated type 3B
Cardiomyopathy, dilated with ataxia
Cardiomyopathy, dilated with hypergonadotropic hypogonadism
Cardiomyopathy, dilated with woolly hair and keratoderma
Cardiomyopathy, familial hypertrophic
Cardiomyopathy, familial hypertrophic type 1
Cardiomyopathy, familial hypertrophic type 10
Cardiomyopathy, familial hypertrophic type 11
Cardiomyopathy, familial hypertrophic type 12
Cardiomyopathy, familial hypertrophic type 16
Cardiomyopathy, familial hypertrophic type 17
Cardiomyopathy, familial hypertrophic type 19
Cardiomyopathy, familial hypertrophic type 2
Cardiomyopathy, familial hypertrophic type 3
Cardiomyopathy, familial hypertrophic type 4
Cardiomyopathy, familial hypertrophic type 6
Cardiomyopathy, familial hypertrophic type 7
Cardiomyopathy, familial hypertrophic type 8
Cardiomyopathy, familial restrictive type 1
Cardiomyopathy, hypertrophic, midventricular, digenic
Cardiomyopathy, hypertrophic, type 18
Cardiomyopathy, hypertrophic, type 24
Cardiomyopathy: Sequencing Panel
CardioNext -Inherited Cadiovascular Panel
CARF
Carney Complex
Carney Complex Test
Carney complex type 1
Carnitine deficiency
Carnitine Deficiency, Primary (Carnitine Uptake Defect): SLC22A5 Gene Sequencing
Carnitine deficiency, systemic primary (deletion/duplication analysis on SLC22A5 gene)
Carnitine palmitoyltransferase 1A deficiency
Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Sequencing
Carnitine palmitoyltransferase 1B deficiency
Carnitine palmitoyltransferase 2 deficiency, infantile
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
Carnitine Palmitoyltransferase IA Deficiency Test
Carnitine Palmitoyltransferase II Deficiency (CPT2 Sequencing)
Carnitine Palmitoyltransferase II Deficiency Test
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Sequencing
Carnitine-acylcarnitine translocase deficiency
Carnitine-Acylcarnitine Translocase Deficiency Test
Carnitine-Acylcarnitine Translocase Deficiency: SLC25A20 Gene Sequencing
CARNMT1
Carotid intimal medial thickness type 1
Carpenter syndrome
Carpenter syndrome type 2
CARS
CARS2
Cartilage-hair hypoplasia
Cartilage-hair hypoplasia (CHH)
CARTPT
CASC1
CASC3
CASC4
CASD1
CASK
CASK-Related Disorders Test
CASK-related XLID: CASK Gene Sequencing
CASP1
CASP10
CASP12
CASP14
CASP2
CASP3
CASP4
CASP5
CASP6
CASP8
CASP8 Gene Sequencing
CASP8AP2
CASP9
CASQ1
CASQ2
CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Test
CASR
CASR-Related Disorders
CASS4
CAST
CAT
Cataract 11, multiple types
Cataract panel
Cataract type 17, multiple types
Cataract type 23
Cataract type 41
Cataract, autosomal dominant
Cataract, autosomal recessive congenital nuclear type 2
Cataract, autosomal recessive congenital type 1
Cataract, autosomal recessive congenital type 2
Cataract, autosomal recessive congenital type 4
Cataract, autosomal recessive type 38
Cataract, congenital, associated with Marinesco-Sjogren Syndrome
Cataract, cortical pulverulent, late-onset
Cataract, lamellar
Cataract, pulverulent or cerulean, with or without microcornea
Cataract, X-linked
Cataract-microcornea syndrome
Cataracts with facial dysmorphism and neuropathy
Catechol-o-methyltransferase deficiency
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel
Catecholaminergic polymorphic ventricular tachycardia panel
Catel-Manzke Syndrome (CATMANS)
CATIP
CATSPER1
CATSPER2
CATSPER3
CATSPER4
CATSPERB
CATSPERD
CATSPERG
CAV1
CAV3
CAV3-Related Sudden Infant Death Syndrome Test
Caveolinopathies Test
CAVIN1
CBFA2T2
CBFB
CBL
CBL Gene Sequencing
CBLB
CBLL1
CBLN1
CBLN2
CBLN3
CBLN4
CBR1
CBR3
CBS
CBS Gene Sequencing
CBS Sequence analysis
CBS Sequence and Deletion/Duplication Analysis
CBWD1
CBWD2
CBX1
CBX2
CBX4
CBX5
CBX6
CBX8
CBY1
CBY3
CC2D1A
CC2D1B
CC2D2A
CC2D2A Gene Sequencing
CC2D2B
CCAR1
CCAR2
CCBE1
CCBL1
CCBL2
CCDC102B
CCDC103
CCDC105
CCDC106
CCDC107
CCDC108
CCDC110
CCDC112
CCDC113
CCDC114
CCDC115
CCDC116
CCDC12
CCDC120
CCDC121
CCDC122
CCDC124
CCDC125
CCDC126
CCDC127
CCDC129
CCDC13
CCDC130
CCDC134
CCDC136
CCDC138
CCDC14
CCDC141
CCDC142
CCDC144A
CCDC144NL
CCDC146
CCDC148
CCDC149
CCDC15
CCDC150
CCDC151
CCDC152
CCDC153
CCDC154
CCDC155
CCDC157
CCDC158
CCDC159
CCDC160
CCDC167
CCDC168
CCDC169
CCDC169-SOHLH2
CCDC17
CCDC170
CCDC171
CCDC172
CCDC173
CCDC175
CCDC178
CCDC18
CCDC182
CCDC183
CCDC184
CCDC185
CCDC186
CCDC189
CCDC190
CCDC191
CCDC22
CCDC24
CCDC25
CCDC27
CCDC28B
CCDC30
CCDC33
CCDC36
CCDC38
CCDC39
CCDC40
CCDC42
CCDC43
CCDC47
CCDC50
CCDC51
CCDC54
CCDC57
CCDC58
CCDC59
CCDC60
CCDC62
CCDC63
CCDC65
CCDC66
CCDC67
CCDC68
CCDC69
CCDC7
CCDC70
CCDC71
CCDC74A
CCDC74B
CCDC77
CCDC78
CCDC79
CCDC8
CCDC80
CCDC81
CCDC82
CCDC83
CCDC84
CCDC85A
CCDC86
CCDC87
CCDC88A
CCDC88B
CCDC88C
CCDC89
CCDC90B
CCDC91
CCDC92
CCDC93
CCDC94
CCDC96
CCDC97
CCER1
CCER2
CCHCR1
CCIN
CCK
CCKAR
CCKBR
CCL1
CCL11
CCL13
CCL14
CCL15
CCL16
CCL17
CCL18
CCL19
CCL2
CCL21
CCL22
CCL23
CCL24
CCL26
CCL27
CCL28
CCL3
CCL4
CCL5
CCL7
CCL8
CCM Tier 2
CCM2
CCNA1
CCNA2
CCNB1
CCNB1IP1
CCNB2
CCNB3
CCNC
CCND1
CCND2
CCND3
CCNDBP1
CCNE1
CCNE2
CCNF
CCNG1
CCNG2
CCNH
CCNI
CCNI2
CCNJ
CCNL1
CCNL2
CCNO
CCNT1
CCNT2
CCNY
CCP110
CCPG1
CCR1
CCR2
CCR3
CCR4
CCR5
CCR6
CCR7
CCR8
CCR9
CCRL2
CCS
CCSER1
CCSER2
CCT2
CCT3
CCT5
CCT6A
CCT6B
CCT7
CCT8L2
CD101
CD109
CD14
CD151
CD160
CD163
CD163L1
CD164L2
CD177
CD180
CD19
CD1A
CD1B
CD1C
CD1D
CD1E
CD2
CD200
CD200R1
CD200R1L
CD207
CD209
CD22
CD226
CD24
CD244
CD247
CD248
CD27
CD274
CD276
CD28
CD2AP
CD2AP Gene Sequencing
CD2BP2
CD300A
CD300C
CD300E
CD300LB
CD300LD
CD300LG
CD302
CD320
CD33
CD34
CD36
CD37
CD38
CD3D
CD3E
CD3EAP
CD3G
CD4
CD40
CD40LG
CD44
CD46
CD46 (MCP) Sequence analysis
CD46 expression
CD47
CD48
CD5
CD53
CD55
CD58
CD59
CD5L
CD63
CD68
CD69
CD70
CD72
CD74
CD79A
CD79B
CD80
CD81
CD82
CD83
CD84
CD86
CD8A
CD8B
CD9
CD93
CD96
CDA
CDAN1
CDC123
CDC14A
CDC16
CDC20
CDC20B
CDC23
CDC25A
CDC25B
CDC25C
CDC27
CDC37
CDC40
CDC42
CDC42BPA
CDC42BPB
CDC42BPG
CDC42EP2
CDC42EP4
CDC42SE1
CDC45
CDC5L
CDC6
CDC7
CDC73
CDC73 Gene Sequencing and Del/Dup
CDCA2
CDCA3
CDCA4
CDCA5
CDCA7
CDCA7L
CDCA8
CDCP1
CDCP2
CDH1
CDH10
CDH11
CDH12
CDH13
CDH15
CDH16
CDH17
CDH18
CDH19
CDH1 Gene, Full Gene Analysis
CDH2
CDH20
CDH23
CDH24
CDH26
CDH3
CDH4
CDH5
CDH6
CDH7
CDH8
CDH9
CDHR1
CDHR1 Sequence and Deletion/Duplication Analysis
CDHR2
CDHR3
CDHR4
CDHR5
CDIPT
CDK1
CDK10
CDK12
CDK14
CDK15
CDK16
CDK17
CDK18
CDK2
CDK20
CDK3
CDK4
CDK5
CDK5R1
CDK5RAP1
CDK5RAP2
CDK5RAP2 Gene Sequencing
CDK5RAP3
CDK6
CDK7
CDK8
CDK9
CDKAL1
CDKL1
CDKL2
CDKL3
CDKL4
CDKL5
CDKL5 Gene Sequencing and Del/Dup
CDKL5 Related Atypical RETT Syndrome- Comprehensive
CDKL5, Atypical Rett syndrome
CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication
CDKN1A
CDKN1B
CDKN1C
CDKN2A
CDKN2A-Related Cutaneous Malignant Melanoma Test
CDKN2AIP
CDKN2AIPNL
CDKN2B
CDKN2B-AS1
CDKN2C
CDKN3
CdLSNext -Cornelia de Lange syndrome Panel
CDNF
CDO1
CDON
CDPF1
CDR2
CDRT1
CDRT15
CDRT15L2
CDRT4
CDS2
CDSN
CDT1
CDX2
CDX4
CDYL
CDYL2
CEACAM1
CEACAM16
CEACAM18
CEACAM20
CEACAM21
CEACAM3
CEACAM4
CEACAM5
CEACAM6
CEACAM7
CEACAM8
CEBPA
CEBPA Mutation Analysis
CEBPE
CEBPG
CEBPZ
CECR1
CECR2
CEL
CELA1
CELA2A
CELA2B
CELA3A
CELA3B
CELF1
CELF3
CELF6
Cell culture of amniotic fluid and screening of the 50 most frequent mutations in the FGFR3, COL2A1 , SLC26A2, CRTAP, P3H1 and SOX9 genes
Cell cycle disorder, CDC20 related
CELSR1
CELSR2
CELSR3
CEMIP
CEMP1
CEND1
CENPB
CENPBD1
CENPC
CENPE
CENPF
CENPJ
CENPJ Gene Sequencing
CENPK
CENPL
CENPM
CENPN
CENPO
CENPP
CENPQ
CENPT
CENPU
CENPW
Central core disease
Central Hypoventilation and Apnea Panel
Central Hypoventilation Syndrome NGS Panel
Central hypoventilation syndrome panel
Central Hypoventilation Syndrome Panel (6 Genes)
Central hypoventilation syndrome with or without Hirschsprung disease
Central hypoventilation syndrome, congenital
Centronuclear Myopathy 1 Test
Centronuclear myopathy type 1
Centronuclear myopathy type 3
Centronuclear myopathy type 4
CEP104
CEP112
CEP120
CEP126
CEP128
CEP131
CEP135
CEP135 Gene Sequencing
CEP152
CEP152 Gene Sequencing
CEP162
CEP164
CEP170
CEP170B
CEP19
CEP192
CEP250
CEP290
CEP290 (NPHP6) Gene Sequencing
CEP290 Sequence and Deletion/Duplication Analysis
CEP295
CEP350
CEP41
CEP44
CEP55
CEP57
CEP57L1
CEP63
CEP68
CEP70
CEP72
CEP76
CEP78
CEP83
CEP85
CEP85L
CEP89
CEP95
CEP97
CEPT1
CER1
CERCAM
Cerebellar ataxia
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3
Cerebellar ataxia with deafness and narcolepsy, autosomal recessive
Cerebellar ataxia with spasticity
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4
Cerebellar ataxia, nonprogressive, with mental retardation
Cerebellar ataxia, SNX14 related
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1
Cerebellar Hypoplasia NGS Panel
Cerebellar-retinal degeneration, infantile
Cerebral amyloid angiopathy
Cerebral Amyloid Angiopathy (APP gene)
Cerebral amyloid angiopathy, APP related
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL)
Cerebral Cavernous Malformation Panel
Cerebral Cavernous Malformation: Sequencing Panel
Cerebral Cavernous Malformations (CCM) Panel
Cerebral cavernous malformations 1 (CCM1)
Cerebral cavernous malformations 2 (CCM2)
Cerebral cavernous malformations 3 (CCM3)
Cerebral Cavernous Malformations NGS Panel
Cerebral cavernous malformations panel
Cerebral cavernous malformations type 1
Cerebral cavernous malformations type 2
Cerebral cavernous malformations type 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
Cerebral palsy type 1, spastic quadriplegic
Cerebral palsy type 2, spastic quadriplegic
Cerebrooculofacioskeletal syndrome type 1
Cerebrooculofacioskeletal syndrome type 4
Cerebrotendinous xanthomatosis
CERKL
CERKL Sequence and Deletion/Duplication Analysis
Ceroid lipofuscinosis neuronal type 1
Ceroid lipofuscinosis neuronal type 10
Ceroid lipofuscinosis neuronal type 11
Ceroid lipofuscinosis neuronal type 2
Ceroid lipofuscinosis neuronal type 3
Ceroid lipofuscinosis neuronal type 4
Ceroid lipofuscinosis neuronal type 5
Ceroid lipofuscinosis neuronal type 6
Ceroid lipofuscinosis neuronal type 7
Ceroid lipofuscinosis neuronal type 8
Ceroid lipofuscinosis panel
CERS2
CERS3
CERS6
Cervical dystonia
CES2
CES3
CES4A
CES5A
CETN1
CETN3
CETP
CFAP100
CFAP126
CFAP157
CFAP161
CFAP20
CFAP206
CFAP221
CFAP36
CFAP43
CFAP44
CFAP45
CFAP46
CFAP52
CFAP53
CFAP54
CFAP57
CFAP58
CFAP61
CFAP69
CFAP70
CFAP74
CFAP77
CFAP97
CFB
CFB Sequence analysis
CFD
CFDP1
CFH
CFH Sequence analysis
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CFI Sequence analysis
CFL1
CFL2
CFL2-Related Nemaline Myopathy Test
CFLAR
CFP
CFTR
CFTR - Gene Sequencing and CNV analysis
CFTR Full Gene Sequencing
CFTR Gene Sequencing and Del/Dup and RFLP and OLA
CFTR Gene Sequencing and RFLP
CFTR Gene, Full Gene Analysis
CFTR Sequencing and Deletion/Duplication Analysis
CFTR-Related Disorders Test
CFTR-Related Hereditary Pancreatitis
CFTR-Related Hereditary Pancreatitis Test
CGA
CGB1
CGB2
CGB5
CGB7
CGB8
CGGBP1
CGN
CGNL1
CGREF1
CGRRF1
CH17-360D5.1
CH25H
CHAC1
CHADL
CHAF1A
CHAF1B
CHAMP1
Chanarin-Dorfman syndrome
Charcot Marie Tooth Disease Extended NGS Panel
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease NGS panel Comprehensive Test
Charcot-Marie-Tooth disease type 2K/4A (CMT2K/4A, deletions/duplications on GDAP1 gene)
Charcot-Marie-Tooth Neuropathy Panel
Charcot-Marie-Tooth Neuropathy Type 1A Test
Charcot-Marie-Tooth Neuropathy Type 1B (MPZ)
Charcot-Marie-Tooth Neuropathy Type 1B Test
Charcot-Marie-Tooth Neuropathy Type 1C Test
Charcot-Marie-Tooth Neuropathy Type 1D Test
Charcot-Marie-Tooth Neuropathy Type 1E Test
Charcot-Marie-Tooth Neuropathy Type 1F/2E Test
Charcot-Marie-Tooth Neuropathy Type 2A2 (MFN2)
Charcot-Marie-Tooth Neuropathy Type 2A2 Test
Charcot-Marie-Tooth Neuropathy Type 2B Test
Charcot-Marie-Tooth Neuropathy Type 2B1 Test
Charcot-Marie-Tooth Neuropathy Type 2B2 Test
Charcot-Marie-Tooth Neuropathy Type 2C Test
Charcot-Marie-Tooth Neuropathy Type 2E/1F Test
Charcot-Marie-Tooth Neuropathy Type 2F Test
Charcot-Marie-Tooth Neuropathy Type 2H/2K Test
Charcot-Marie-Tooth Neuropathy Type 2I/2J Test
Charcot-Marie-Tooth Neuropathy Type 2L Test
Charcot-Marie-Tooth Neuropathy Type 2N Test
Charcot-Marie-Tooth Neuropathy Type 4A Test
Charcot-Marie-Tooth Neuropathy Type 4B1 Test
Charcot-Marie-Tooth Neuropathy Type 4B2 Test
Charcot-Marie-Tooth Neuropathy Type 4C Test
Charcot-Marie-Tooth Neuropathy Type 4D Test
Charcot-Marie-Tooth Neuropathy Type 4E Test
Charcot-Marie-Tooth Neuropathy Type 4F Test
Charcot-Marie-Tooth Neuropathy Type 4H Test
Charcot-Marie-Tooth Neuropathy Type 4J Test
Charcot-Marie-Tooth Neuropathy X Type 1 (GJB1)
Charcot-Marie-Tooth Neuropathy X Type 1 Test
Charcot-Marie-Tooth Neuropathy X Type 5 Test
CHARGE (CHD7 sequence and deletion/duplication analysis)
CHARGE Syndrome
CHARGE Syndrome Test
CHARGE Syndrome, CHD7 Seq and Del/Dup
CHARGE Syndrome: CHD7 Gene Sequencing
CHAT
CHAT-Related Congenital Myasthenic Syndrome Test
CHCHD1
CHCHD10
CHCHD2
CHCHD3
CHCHD4
CHCHD5
CHCHD6
CHCHD7
CHD1
CHD1L
CHD2
CHD3
CHD4
CHD5
CHD6
CHD7
CHD7 Gene Sequencing and Del/Dup
CHD8
CHD9
CHDH
Chediak-Higashi syndrome
CHEK1
CHEK2
CHEK2-related cancer
CHEK2-Related Susceptibility to Breast Cancer Test
CHEK2 Gene, Full Gene Analysis
CHFR
CHGA
CHGB
CHI3L1
CHI3L2
CHIA
CHIC2
CHID1
CHILD syndrome
Childhood Absence Epilepsy: GABRB3 Gene Sequencing
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1 Gene Sequencing
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B2 Gene Sequencing
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B3 Gene Sequencing
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B4 Gene Sequencing
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B5 Gene Sequencing
Childhood Intersitial Lung Disease Panel
Childhood-Onset Epilepsy Panel
CHIME syndrome
CHIT1
CHKB
CHKB-Related Muscle Diseases Test
CHL1
CHM
CHMP1A
CHMP1B
CHMP2A
CHMP2B
CHMP4A
CHMP4B
CHMP4C
CHMP5
CHMP6
CHMP7
CHN1
CHN2
Choanal atresia and lymphedema
CHODL
Cholestasis benign recurrent intrahepatic type 2
Cholestasis intrahepatic, of pregnancy, type 3
Cholestasis NGS Panel
Cholestasis Panel
Cholestasis progressive intrahepatic type 1
Cholestasis progressive intrahepatic type 2
Cholestasis progressive intrahepatic type 3
Cholestasis, benign recurrent intrahepatic
Cholestasis, Benign Recurrent Intrahepatic, 1 (BRIC1)
Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)
Cholestasis, infantile, NR1H4 related
Cholestasis, Intrahepatic, of Pregnancy, 1 (ICP1)
Cholestasis, Intrahepatic, of Pregnancy, 3 (ICP3)
Cholestasis, intrahepatic, of pregnancy, type 1
Cholestasis, Progressive Familial Intrahepatic, 1 (PFIC1)
Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)
Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3)
Cholestasis, Progressive Familial Intrahepatic, 4 (PFIC4)
Cholesteryl ester storage disease
Chondrocalcinosis 2 (CCAL2)
Chondrocalcinosis type 2
Chondrodysplasia Punctata 1, X-linked Recessive (CDPX1)
Chondrodysplasia Punctata 2, X-linked Dominant (CDPX2)
Chondrodysplasia punctata and related disorders NGS panel
Chondrodysplasia Punctata Panel
Chondrodysplasia punctata, X-linked dominant
Chondrodysplasia punctata, X-linked recessive
Chondrodysplasia with joint dislocations, GPAPP type
Chondrodysplasia, Blomstrand type
Chondrodysplasia, Blomstrand Type (BOCD)
Chondrodysplasia, Grebe type (AMDG)
Chondrosarcoma, familial
CHORDC1
Chorea, hereditary benign
Chorea-acanthocytosis Test
Choreatic Movement Disorders Panel
Choreoacanthocytosis
Choroidal dystrophy, central areolar type 2
Choroideremia
Choroideremia: CHM Gene Sequencing
CHP1
CHP2
CHPF
CHPF2
CHRD
CHRDL1
CHRM1
CHRM2
CHRM3
CHRM4
CHRM5
CHRNA1
CHRNA1-Related Congenital Myasthenic Syndrome Test
CHRNA10
CHRNA2
CHRNA3
CHRNA4
CHRNA5
CHRNA6
CHRNA9
CHRNB1
CHRNB1-Related Congenital Myasthenic Syndrome Test
CHRNB2
CHRNB3
CHRNB4
CHRND
CHRND-Related Congenital Myasthenic Syndrome Test
CHRNE
CHRNE-Related Congenital Myasthenic Syndrome Test
CHRNG
Chromosomal Instability Syndromes NGS Panel
Chromosomal Microarray (CMA)
Chromosomal Microarray Analysis, Postnatal
Chromosomal SNP Microarray (CMA)
Chromosome 11p15.5-Related Russell-Silver Syndrome
Chromosome 11p15.5-Related Russell-Silver Syndrome Test
Chromosome 7-Related Russell-Silver Syndrome
Chromosome 7-Related Russell-Silver Syndrome Test
Chromosome Analysis in Amniotic Fluid with Rapid FISH Result
Chromosome Analysis with Karyotyping
Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray
Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray
Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray
Chromosome Analysis: Fetal Blood (Percutaneous Umbilical Blood Sampling/PUBS)
Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray
Chromosome FISH, Chorionic Villus with Reflex to Chromosome Analysis or Genomic Microarray
Chrondrodysplasia, acromesomelic, with genital anomalies
Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing
Chronic granulomatous disease panel
Chronic Granulomatous Disease, X-Linked (CYBB) Gene Scanning with Reflex to Sequencing
Chronic Pancreatitis NGS Panel
CHST1
CHST10
CHST11
CHST12
CHST14
CHST14 Gene Sequencing
CHST2
CHST3
CHST4
CHST5
CHST6
CHST7
CHST8
CHST9
CHSY1
CHSY3
CHTF18
CHTF8
CHTOP
Chudley-McCullough syndrome
CHUK
CHURC1
CHURC1-FNTB
CIAO1
CIAPIN1
CIART
CIB1
CIB2
CIB3
CIB4
CIC
CID with associated or syndromic features - Thymic defects (NGS panel for 4 genes and deletion of 22q11.2 by MLPA)
CIDEA
CIDEB
CIDEC
CIITA
Ciliary (primary) dyskinesia panel
Ciliopathies NGS Panel
Ciliopathies: Sequencing Panel
Ciliopathy Panel
CILP
CILP2
CINP
CIPC
CIR1
CIRBP
CIRH1A
CISD1
CISD2
CISH
CIT
CITED1
CITED2
Citrin deficiency
Citrullinemia
Citrullinemia Type I Test
Citrullinemia Type II Test
Citrullinemia: ASS1 Gene Sequencing
CK syndrome
CKAP2
CKAP2L
CKAP5
CKLF
CKLF-CMTM1
CKM
CKMT2
CKS1B
CLASP1
CLASP2
CLASRP
Classic Lissencephaly/Subcortical Band Heterotopia: DCX Gene Sequencing
CLC
CLCA1
CLCA2
CLCA4
CLCC1
CLCF1
CLCN1
CLCN2
CLCN3
CLCN5
CLCN6
CLCN7
CLCN7 Sequence and Deletion/Duplication Analysis
CLCNKA
CLCNKB
CLCNKB full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
CLDN1
CLDN10
CLDN11
CLDN12
CLDN14
CLDN15
CLDN16
CLDN17
CLDN18
CLDN19
CLDN2
CLDN20
CLDN22
CLDN24
CLDN25
CLDN3
CLDN34
CLDN4
CLDN6
CLDN7
CLDN8
CLDN9
CLDND1
CLEC11A
CLEC12A
CLEC12B
CLEC14A
CLEC16A
CLEC17A
CLEC18B
CLEC19A
CLEC1A
CLEC1B
CLEC2A
CLEC2B
CLEC2D
CLEC3A
CLEC3B
CLEC4A
CLEC4C
CLEC4D
CLEC4E
CLEC4F
CLEC4G
CLEC4M
CLEC5A
CLEC6A
CLEC7A
CLECL1
Cleft lip/palate panel
Cleidocranial dysplasia
Cleidocranial dysplasia (CCD)
CLGN
CLHC1
CLIC1
CLIC2
CLIC3
CLIC5
Clinical Exome
Clinical Exome Trios
CLINT1
CLIP1
CLIP2
CLIP4
CLK1
CLK2
CLK4
CLLU1
CLLU1OS
CLMN
CLMP
CLN3
CLN3 Gene Sequencing and Deletion/Duplication Analysis
CLN5
CLN6
CLN8
CLNK
CLNS1A
CLOCK
CLP1
CLPB
CLPS
CLPSL1
CLPTM1
CLPTM1L
CLPX
CLRN1
CLRN2
CLRN3
CLSPN
CLSTN1
CLSTN2
CLSTN3
CLTB
CLTC
CLTCL1
CLU
CLUAP1
Club foot
CLUH
CLUL1
CLVS1
CLVS2
CLYBL
CMA-Expanded and Limited Karyotype-Amniotic Fluid
CMA-Expanded and Limited Karyotype-CVS
CMA-Targeted and Limited Karyotype-Amniotic Fluid
CMA-Targeted and Limited Karyotype-CVS
CMA1
CMAS
CMBL
CMC2
CMIP
CMKLR1
CMNext - Cardiomyopathy Panel
CMPK1
CMSS1
CMT neuropathy panel
CMT1A
CMT1B
CMT1C
CMT1D
CMT1E
CMT1F
CMT2A1
CMT2A2
CMT2B
CMT2B1
CMT2B2
CMT2C
CMT2D
CMT2E
CMT2F
CMT2I
CMT2J
CMT2K
CMT2L
CMT2N
CMT2O
CMT2P
CMT4, CTDP1 related
CMT4A
CMT4B1
CMT4B2
CMT4C
CMT4D
CMT4E
CMT4F
CMT4H
CMT4J
CMTDIF
CMTM2
CMTM5
CMTM8
CMTR1
CMTR2
CMTRIB
CMTRID
CMTX1
CMTX4
CMTX5
CMYA5
CNBD1
CNBD2
CNBP
CNDP1
CNEP1R1
CNFN
CNGA1
CNGA1 Sequence and Deletion/Duplication Analysis
CNGA2
CNGA3
CNGA4
CNGB1
CNGB1 Sequence and Deletion/Duplication Analysis
CNGB3
CNIH4
CNKSR1
CNKSR2
CNKSR3
CNN1
CNN2
CNN3
CNNM2
CNNM4
CNOT1
CNOT10
CNOT11
CNOT2
CNOT3
CNOT4
CNOT6
CNOT6L
CNOT7
CNOT8
CNP
CNPPD1
CNPY1
CNPY2
CNPY3
CNPY4
CNR1
CNR2
CNST
CNTD1
CNTD2
CNTF
CNTFR
CNTLN
CNTN1
CNTN2
CNTN4
CNTN5
CNTN6
CNTNAP1
CNTNAP2
CNTNAP2-related Disorders: CNTNAP2 Gene Sequencing
CNTNAP4
CNTNAP5
CNTRL
CNTROB
CoA-2 4-dienoyl reductase 1 deficiency
CoA-3-hydroxyacyl dehydrogenase deficiency
CoA-3-methylcrontonyl carboxylase 1 deficiency
CoA-3-methylcrontonyl carboxylase 2 deficiency
COA1
COA3
COA4
COA5
COA6
COA7
COACH syndrome
Coagulation Factor Deficiency Panel
Coagulation NGS Panel
COASY
Coat plus syndrome
Cobalamin Homocysteine Methionine NGS Panel
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)
COBL
COBLL1
COCH
Cockayne Syndrome
Cockayne Syndrome NGS Panel
Cockayne Syndrome Panel
Cockayne syndrome type A
Cockayne syndrome type B
CODAS syndrome
CoEnzyme Q10 Deficiency Nuclear Gene Panel
Coenzyme q10 Deficiency Panel
Coenzyme Q10 deficiency type 1
Coenzyme Q10 deficiency type 2
Coenzyme Q10 deficiency type 3
Coenzyme Q10 deficiency type 5
Coffin-Lowry syndrome
Coffin-Lowry syndrome (deletion/duplication analysis of RPS6KA3 gene)
Coffin-Lowry Syndrome Test
Coffin-Lowry Syndrome: RPS6KA3 Gene Sequencing
Coffin-Siris Syndrome
Coffin-Siris syndrome panel
Coffin-Siris syndrome, SMARCE1 related
COG1
COG2
COG3
COG4
COG5
COG6
COG7
COG8
Cohen syndrome
Cohen Syndrome: VPS13B Gene Sequencing
COIL
COL10A1
COL11A1
COL11A2
COL12A1
COL13A1
COL14A1
COL15A1
COL16A1
COL17A1
COL18A1
COL19A1
COL1A1
COL1A1 - Gene Sequencing and CNV analysis
COL1A1 Gene Sequencing
COL1A1 Gene Sequencing and Del/Dup
COL1A1/2-Related Osteogenesis Imperfecta
COL1A1/2-Related Osteogenesis Imperfecta Test
COL1A2
COL1A2 - Gene Sequencing and CNV analysis
COL1A2 Gene Sequencing
COL1A2 Sequence and Deletion/Duplication Analysis
COL20A1
COL21A1
COL22A1
COL24A1
COL25A1
COL26A1
COL27A1
COL28A1
COL2A1
COL2A1 Gene Sequencing
COL2A1 Related Disorders, COL2A1 Seq and Del/Dup
COL2A1-Related Stickler Syndrome Test
COL3A1
COL3A1 - Gene Sequencing and CNV analysis
COL3A1 Gene Sequencing and Del/Dup
COL3A1 Sequence and Deletion/Duplication Analysis
COL4A1
COL4A1-Related Disorders Test
COL4A2
COL4A3
COL4A3 Gene Sequencing
COL4A4
COL4A4 Gene Sequencing
COL4A5
COL4A5 Gene Sequencing and Del/Dup
COL4A6
COL5A1
COL5A1 Gene Sequencing and Del/Dup
COL5A2
COL5A2 Gene Sequencing
COL5A3
COL6A1
COL6A2
COL6A3
COL6A5
COL6A6
COL7A1
COL8A1
COL8A2
COL9A1
COL9A2
COL9A3
Colchicine resistance
Cold autoinflammatory syndrome type 2
Cold-induced sweating syndrome
Cold-induced sweating syndrome type 2
Cole disease
Cole-Carpenter syndrome 1 (CLCRP1)
Cole-Carpenter syndrome 2 (CLCRP2)
Cole-Carpenter syndrome NGS panel
COLEC10
COLEC11
COLGALT2
Collagen Type VI-Related Disorders Panel
Collagen Type VI-Related Disorders Test
Coloboma of optic nerve
Coloboma, ocular, autosomal dominant
Colobomatous microphthalmia
Colon cancer non-polyposis panel
Colon cancer with polyps panel
ColoNext
Colorectal Cancer Comprehensive Panel
Colorectal Cancer Focus Panel
Colorectal Cancer NGS panel (20 genes)
Colorectal Cancer Panel
Colorectal Cancer Panel test
Colorectal cancer screening (methylation analysis of SEPT9 gene)
Colorectal Cancer Sequencing And Deletion/Duplication Panel
Colorectal cancer, hereditary
Colorectal cancer, hereditary nonpolyposis (deletion/duplication analysis on PMS2 gene)
Colorectal cancer, hereditary nonpolyposis type 1
Colorectal cancer, hereditary nonpolyposis type 2
Colorectal cancer, hereditary nonpolyposis type 4
Colorectal cancer, hereditary nonpolyposis type 5
Colorectal cancer, hereditary nonpolyposis type 6
Colorectal cancer, hereditary nonpolyposis type 7
Colorectal cancer, hereditary nonpolyposis type 8
Colorectal cancer, hereditary nonpolyposis, type 5 (deletion/duplication analysis on MSH6 gene)
Colorectal cancer, hereditary, susceptibility to
Colorectal Polyposis Panel
ColoTrue
COLQ
COLQ-Related Congenital Myasthenic Syndrome Test
Com.Pl.i.t. DX 54 genes - Comprehensive Panel for Individualized Cancer Threatment
Combined cellular and humoral immune defects with granulomas
Combined D-2- and L-2-hydroxyglutaric aciduria
Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive
Combined immunodeficiency, X-linked, moderate
Combined malonic and methylmalonic aciduria
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
Combined Oxidative Phosphorylation Deficiency 1 Test
Combined Oxidative Phosphorylation Deficiency 10 Test
Combined Oxidative Phosphorylation Deficiency 12 Test
Combined Oxidative Phosphorylation Deficiency 2 Test
Combined Oxidative Phosphorylation Deficiency 3 Test
Combined Oxidative Phosphorylation Deficiency 4 Test
Combined Oxidative Phosphorylation Deficiency 8 Test
Combined oxidative phosphorylation deficiency type 1
Combined oxidative phosphorylation deficiency type 10
Combined oxidative phosphorylation deficiency type 11
Combined oxidative phosphorylation deficiency type 12
Combined oxidative phosphorylation deficiency type 13
Combined oxidative phosphorylation deficiency type 14
Combined oxidative phosphorylation deficiency type 15
Combined oxidative phosphorylation deficiency type 16
Combined oxidative phosphorylation deficiency type 17
Combined oxidative phosphorylation deficiency type 18
Combined oxidative phosphorylation deficiency type 19
Combined oxidative phosphorylation deficiency type 2
Combined oxidative phosphorylation deficiency type 20
Combined oxidative phosphorylation deficiency type 21
Combined oxidative phosphorylation deficiency type 22
Combined oxidative phosphorylation deficiency type 23
Combined oxidative phosphorylation deficiency type 24
Combined oxidative phosphorylation deficiency type 25
Combined oxidative phosphorylation deficiency type 3
Combined oxidative phosphorylation deficiency type 4
Combined oxidative phosphorylation deficiency type 5
Combined oxidative phosphorylation deficiency type 6
Combined oxidative phosphorylation deficiency type 7
Combined oxidative phosphorylation deficiency type 8
Combined oxidative phosphorylation deficiency type 9
Combined pituitary hormone deficiency panel
COMMD1
COMMD10
COMMD2
COMMD3
COMMD4
COMMD5
COMMD6
COMMD7
COMMD8
COMMD9
COMP
Complement factor serum screen
Complement System Disorder Panel
Complete Androgen Insensitivity Syndrome
Comprehensive Arrhythmia Panel
Comprehensive Autosomal Recessive Primary Microcephaly Panel
Comprehensive Brain Malformations Panel
Comprehensive Cancer Panel
Comprehensive Cardiology Panel
Comprehensive Cardiomyopathy Panel
Comprehensive Cardiovascular: Sequencing Panel
Comprehensive COLARIS
Comprehensive COLARIS AP
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 + HTT Repeat Expansion Analysis; 91 genes)
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 91 genes)
Comprehensive Dementia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 91 genes)
Comprehensive Dominant and Recessive OI Panel
Comprehensive Dystonia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 96 genes + mtDNA)
Comprehensive dystonia panel
Comprehensive Epilepsy Panel
Comprehensive Familial Hyperinsulinism panel
Comprehensive Familial Myelodysplastic Syndrome/Acute Leukemia Panel
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Globin Gene Analysis
Comprehensive Hearing Loss and Deafness Panel
Comprehensive Hematology Panel
Comprehensive Hereditary Breast/Ovarian Cancer Panel
Comprehensive Hereditary Cancer Panel
Comprehensive Hereditary Colorectal Cancer Panel
Comprehensive Hydrocephalus Panel
Comprehensive Inherited Bone Marrow Failure Panel
Comprehensive Kabuki Syndrome Panel
Comprehensive Lissencephaly panel
Comprehensive Metabolism Panel
Comprehensive Mitochondrial Nuclear Gene Panel
Comprehensive Monogenic Diabetes Panel
Comprehensive Muscular Dystrophy / Myopathy Panel
Comprehensive Neonatal Diabetes Mutation Analysis
Comprehensive Pulmonology Panel
Comprehensive Robinow Syndrome Panel
Comprehensive Rubinstein-Taybi Syndrome Panel
Comprehensive SCID Panel
Comprehensive Short Stature Syndrome Panel
Comprehensive Skeletal / Malformation Syndrome Panel
Comprehensive Skeletal Dysplasias and Disorders Panel
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel
Compton-North congenital myopathy
COMT
Cone Rod Dystrophy Panel
Cone-rod and cone dystrophy panel
Cone-rod dystrophy
Cone-Rod Dystrophy NGS Panel
Cone-rod dystrophy type 11
Cone-rod dystrophy type 12
Cone-rod dystrophy type 13
Cone-rod dystrophy type 14
Cone-rod dystrophy type 15
Cone-rod dystrophy type 2
Cone-rod dystrophy type 20
Cone-rod dystrophy type 3
Cone-rod dystrophy type 4
Cone-rod dystrophy type 5
Cone-rod dystrophy type 7
Cone-rod dystrophy type 9
Cone-rod dystrophy, C21orf2 related
Cone-rod dystrophy, X-linked type 3
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (deletions/duplications on CYP17A1 gene)
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, Mutations and Deletions-Duplications CYP21A2 Gene
Congenital adrenal hyperplasia panel
Congenital Adrenal Hyperplasia Test (due to 21-hyroxylase deficiency)
Congenital and Familial Lipodystrophy Panel
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Test
Congenital Central Hypoventilation Syndrome (PHOX2B)
Congenital Central Hypoventilation Syndrome Test
Congenital Central Hypoventilation Syndrome: Sequencing Panel
Congenital contractural arachnodactyly (CCA)
Congenital deafness (deletions on GJB6 gene)
Congenital Diarrhea Panel
Congenital Disorder of Glycosylation Ia: PMM2 Gene Sequencing
Congenital Disorder of Glycosylation Ib: MPI Gene Sequencing
Congenital Disorder of Glycosylation Ic: ALG6 Gene Sequencing
Congenital Disorder of Glycosylation Id: ALG3 Gene Sequencing
Congenital Disorder of Glycosylation Ie: DPM1 Gene Sequencing
Congenital Disorder of Glycosylation If: MPDU1 Gene Sequencing
Congenital Disorder of Glycosylation Ig: ALG12 Gene Sequencing
Congenital Disorder of Glycosylation Ih: ALG8 Gene Sequencing
Congenital Disorder of Glycosylation Ii: ALG2 Gene Sequencing
Congenital Disorder of Glycosylation IIa: MGAT2 Gene Sequencing
Congenital Disorder of Glycosylation IIb: GCS1 Gene Sequencing
Congenital Disorder of Glycosylation IIc: SLC35C1 Gene Sequencing
Congenital Disorder of Glycosylation IId: B4GALT1 Gene Sequencing
Congenital Disorder of Glycosylation IIe: COG7 Gene Sequencing
Congenital Disorder of Glycosylation IIf: SLC35A1 Gene Sequencing
Congenital Disorder of Glycosylation IIg: COG1 Gene Sequencing
Congenital Disorder of Glycosylation IIh: COG8 Gene Sequencing
Congenital Disorder of Glycosylation IIi: COG5 Gene Sequencing
Congenital Disorder of Glycosylation IIj: COG4 Gene Sequencing
Congenital Disorder of Glycosylation IIL: COG6 Gene Sequencing
Congenital Disorder of Glycosylation Ij: DPAGT1 Gene Sequencing
Congenital Disorder of Glycosylation Ik: ALG1 Gene Sequencing
Congenital Disorder of Glycosylation IL: ALG9 Gene Sequencing
Congenital Disorder of Glycosylation Im: DOLK Gene Sequencing
Congenital Disorder of Glycosylation In: RFT1 Gene Deletion/Duplication
Congenital Disorder of Glycosylation In: RFT1 Gene Sequencing
Congenital Disorder of Glycosylation Io: DPM3 Gene Sequencing
Congenital Disorder of Glycosylation Ip: ALG11 Gene Sequencing
Congenital Disorder of Glycosylation Ir: DDOST Gene Sequencing
Congenital Disorder of Glycosylation Is: ALG13 Gene Sequencing
Congenital Disorder of Glycosylation Type 1a (PMM2 Sequencing)
Congenital Disorder of Glycosylation, ATP6V0A2-related: ATP6V0A2 Gene Sequencing
Congenital Disorder of Glycosylation, GNE-related: GNE Gene Sequencing
Congenital Disorder of Glycosylation, SRD5A3-related: SRD5A3 Gene Sequencing
Congenital Disorder of Glycosylation, TUSC3-related: TUSC3 Gene Sequencing
Congenital disorder of glycosylation, type Ip
Congenital disorder of glycosylation, type Iq
Congenital disorder of glycosylation, type Iw
Congenital Disorders of Glycosylation 1c
Congenital Disorders of Glycosylation NGS Panel
Congenital Disorders of Glycosylation Panel
Congenital Disorders of Glycosylation: Sequencing Panel
Congenital Dyserythropoietic Anemia Type II: SEC23B Gene Sequencing
Congenital Fiber Type Disproportion NGS Panel
Congenital Generalized Lipodystrophy Type 1/2 NGS Panel
Congenital glaucoma (deletion/duplication analysis of CYP1B1 gene)
Congenital glycosylation disease panel
Congenital heart defects multiple types
Congenital heart defects panel
Congenital heart disease and transposition of the great arteries
Congenital Heart Disease NGS Panel
Congenital heart disease NGS panel Comprehensive Test
Congenital Hepatic Fibrosis NGS Panel
Congenital Hepatic Fibrosis Panel
Congenital Hyperinsulinism Panel: Level 1 (ABCC8, KCNJ11, GLUD1, GCK)
Congenital Hyperinsulinism Panel: Level 2 (ABCC8, KCNJ11, GLUD1, GCK, SLC16A1, UCP2, HNF1A, HNF4A, HADH)
Congenital Hypothyroidism: FOXE1 Gene Sequencing
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Sequencing Panel
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14
Congenital Indifference to Pain, Autosomal Recessive Test
Congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan
Congenital Muscular Dystrophy with Integrin Alpha 7 Deficiency: ITGA7 Gene Sequencing
Congenital Muscular Dystrophy: Sequencing Panel
Congenital Myasthenic Syndrome NGS Panel
Congenital myasthenic syndrome panel
Congenital Myasthenic Syndromes Panel
Congenital Myasthenic Syndromes: Deletion/Duplication Panel
Congenital Myasthenic Syndromes: Sequencing Panel
Congenital Myopathies and Muscular Dystrophies Panel
Congenital myopathy panel
Congenital Neutropenia Panel
Congenital Obesity: Sequencing Panel
Congenital Rett Syndrome (FOXG1), Deletions/Duplications and Sequencing
Congenital short-bowel syndrome
Congenital Stationary Night Blindness Panel
Congenital Stationary Night Blindness: Sequencing Panel
Congenital Structural Heart Disease Panel
Congenital Variant of Rett Syndrome (FOXG1 sequence and deletion/duplication analysis)
Congenital Variant Rett Syndrome: FOXG1 Gene Sequencing
Connective Tissue Disorders: Sequencing Panel
Connective Tissue NGS Panel
Connexin (GJB2 Sequencing and GJB6-D13S1830 Deletion) Test
Convulsions, benign familial infantile, 3
Convulsions, familial infantile, with paroxysmal choreoathetosis
COPA
COPB1
COPB2
COPG1
COPG2
Coproporphyria
COPS2
COPS3
COPS4
COPS5
COPS6
COPS7A
COPS7B
COPS8
COPZ1
COQ2
COQ2 Sequence and Deletion/Duplication Analysis
COQ2-Related Coenzyme Q10 Deficiency Test
COQ3
COQ4
COQ5
COQ6
COQ7
COQ8A/ADCK3-Related Coenzyme Q10 Deficiency Test
COQ9
CoQ9 Sequence and Deletion/Duplication Analysis
COQ9-Related Coenzyme Q10 Deficiency Test
Core CMT Panel
CORIN
Corneal Dystrophy Panel
Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, posterior polymorphous, type 1
Corneal endothelial dystrophy type 2
Corneal intraepithelial dyskeratosis and ectodermal dysplasia
Corneal opacification and other ocular anomalies
Cornelia de Lange syndrome (deletion/duplication analysis of NIPBL gene)
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome NGS Comprehensive panel
Cornelia De Lange Syndrome NGS Panel
Cornelia de Lange syndrome panel
Cornelia de Lange Syndrome Test
Cornelia de Lange syndrome type 1
Cornelia de Lange syndrome type 2
Cornelia de Lange syndrome type 3
Cornelia de Lange syndrome type 4
Cornelia de Lange syndrome type 5
Cornelia de Lange Syndrome: NIPBL Gene Sequencing
Cornelia de Lange Syndrome: Sequencing Panel
Cornelia de Lange Syndrome: SMC1A Gene Sequencing
CORO1A
CORO1B
CORO1C
CORO2A
CORO2B
CORO6
CORO7
CORO7-PAM16
Coronary artery disease in familial hypercholesterolemia, protection against
Coronary heart disease, susceptibility to, type 6
Corpus callosum, agenesis of, with abnormal genitalia
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Cortical Brain Malformations Panel
Cortical dysplasia, complex, with other brain malformations, type 1
Cortical dysplasia, complex, with other brain malformations, type 5
Cortical dysplasia-focal epilepsy syndrome
Cortical malformations, occipital
Corticobasal Degeneration, CFL1 related
Costello Syndrome
Costello Syndrome Test
Costello Syndrome: HRAS Gene Sequencing
COTL1
Coumarin resistance
Coumarin/Warfarin resistance due to CYP2C9 variants
Cousin syndrome
Cowden Syndrome
Cowden syndrome 1 (deletion/duplication analysis of PTEN gene)
Cowden syndrome type 1
Cowden syndrome type 3
Cowden syndrome type 5
Cowden syndrome type 6
Cowden Syndrome: PTEN Gene Sequencing
COX10
COX10 Sequence and Deletion/Duplication Analysis
COX11
COX14
COX15
COX15 Sequence and Deletion/Duplication Analysis
COX17
COX18
COX19
COX4I1
COX4I1 Sequence and Deletion/Duplication Analysis
COX4I2
COX4I2 Sequence and Deletion/Duplication Analysis
COX5B
COX6A1
COX6B1
COX6B1 Sequence and Deletion/Duplication Analysis
COX6B2
COX7A1
COX7A1 Sequence and Deletion/Duplication Analysis
COX7A2
COX7B
COX7B2
COX7C
COX8C
CP
CPA1
CPA2
CPA3
CPA4
CPA5
CPA6
CPAMD8
CPB1
CPB2
CPD
CPE
CPEB1
CPEB3
CPEB4
CPED1
CPLX2
CPLX4
CPM
CPN1
CPN2
CPNE1
CPNE2
CPNE3
CPNE4
CPNE5
CPNE6
CPNE8
CPNE9
CPO
CPOX
CPPED1
CPQ
CPS1
CPS1 Sequence and Deletion/Duplication Analysis
CPSF1
CPSF2
CPSF3
CPSF3L
CPSF4L
CPSF6
CPT1A
CPT1A Gene Sequencing
CPT1A Sequence and Deletion/Duplication Analysis
CPT1B
CPT1B Sequence and Deletion/Duplication Analysis
CPT1C
CPT2
CPT2 Sequence and Deletion/Duplication Analysis
CPTP
CPVL
CPVTNext - Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panel
CPXCR1
CPXM1
CPXM2
CPZ
CR1
CR1L
CR2
CRABP1
CRABP2
CRACR2A
CRADD
CRAMP1
Craniodiaphyseal dysplasia, autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant (CDD)
Cranioectodermal dysplasia 2 (CED2)
Cranioectodermal dysplasia 4 (CED4)
Cranioectodermal dysplasia type 1
Cranioectodermal dysplasia type 2
Cranioectodermal dysplasia type 3
Cranioectodermal dysplasia type 4
Craniofacial and neuro-developmental abnormalities
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniofacial Panel Plus MLPA (19 genes)
Craniofacial-skeletal-dermatologic dysplasia
Craniofrontonasal dysplasia (deletion/duplication analysis on EFNB1 gene)
Craniofrontonasal syndrome
Craniofrontonasal syndrome (CFNS)
Craniofrontonasal Syndrome (EFNB1 sequence and deletion/duplication analysis)
Craniofrontonasal Syndrome Test
Craniometaphyseal dysplasia
Craniometaphyseal dysplasia, autosomal dominant (CMDD)
Craniosynostosis and craniofacial disorders panel
Craniosynostosis and dental anomalies
Craniosynostosis core NGS panel
Craniosynostosis NGS panel Comprehensive Test
Craniosynostosis Panel
Craniosynostosis Panel (FGFR1, FGFR2, FGFR3, and TWIST1 sequence analysis and TWIST1 deletion/duplication analysis)
Craniosynostosis type 1
Craniosynostosis type 2
Craniosynostosis type 3
Craniosynostosis type 4
Craniosynostosis type 6
Craniosynostosis, FGFR1 related
Craniosynostosis, nonspecific
Craniosynostosis, type 1 (CRS1)
Craniosynostosis: Saethre-Chotzen Syndrome (TWIST sequence and deletion/duplication analysis and FGFR3 analysis for P250R mutation)
CRAT
CRB1
CRB1 Sequence and Deletion/Duplication Analysis
CRB2
CRBN
CRCP
Creatine deficiency syndrome X-linked
Creatine Metabolism Deficiency Panel
Creatine phosphokinase, elevated serum
Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication
CREB1
CREB3
CREB3L1
CREB3L3
CREB3L4
CREB5
CREBBP
CREBBP Gene (Karyotyping and FISH)
CREBBP Select Exons Sequencing and Del/Dup
CREBBP Sequencing and Del/Dup
CREBL2
CREBRF
CREBZF
CRELD1
CREM
Creutzfeldt-Jakob disease
CRH
CRHBP
CRHR1
CRHR2
Cri du Chat Syndrome Test
Crigler-Najjar syndrome, type 1
Crigler-Najjar syndrome, type 2
CRIP1
CRIPAK
CRIPT
CRISP1
CRISP2
CRISP3
CRISPLD1
CRISPLD2
CRK
CRKL
CRLF1
CRLF3
CRNKL1
CRNN
CROCC
CROT
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
CRP
CRTAC1
CRTAM
CRTAP
CRTC1
CRTC2
CRTC3
CRX
CRX Sequence and Deletion/Duplication Analysis
CRY1
CRY2
CRYAA
CRYAB
CRYBA1
CRYBA2
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGA
CRYGB
CRYGC
CRYGD
CRYGN
CRYGS
CRYL1
CRYM
Cryptorchidism
CRYZ
CRYZL1
CS
CSAD
CSAG1
CSDE1
CSE1L
CSF1
CSF1R
CSF2
CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction Test
CSF2RB
CSF3
CSF3R
CSGALNACT1
CSGALNACT2
CSH1
CSH2
CSHL1
CSK
CSMD1
CSMD2
CSMD3
CSN1S1
CSN2
CSN3
CSNK1A1
CSNK1A1L
CSNK1D
CSNK1E
CSNK1G1
CSNK1G3
CSNK2A1
CSNK2A2
CSNK2A3
CSNK2B
CSPG4
CSPP1
CSRNP1
CSRNP2
CSRNP3
CSRP1
CSRP2
CSRP2BP
CSRP3
CST1
CST11
CST2
CST3
CST4
CST5
CST6
CST7
CST8
CST9
CST9L
CSTA
CSTB
CSTF1
CSTF2T
CSTF3
CSTL1
CT47B1
CT62
CT83
CTAG2
CTAGE1
CTAGE9
CTBP1
CTBP2
CTBS
CTC1
CTCF
CTCFL
CTDNEP1
CTDP1
CTDSP1
CTDSP2
CTDSPL
CTF1
CTGF
CTH
CTHRC1
CTIF
CTLA4
CTNNA1
CTNNA2
CTNNA3
CTNNAL1
CTNNB1
CTNNBIP1
CTNNBL1
CTNND1
CTNS
CTPS1
CTPS2
CTR9
CTRC
CTRL
CTSA
CTSB
CTSC
CTSD
CTSD Gene Sequence and Deletion/Duplication Analysis
CTSE
CTSG
CTSH
CTSK
CTSK Sequence and Deletion/Duplication Analysis
CTSL
CTSS
CTSW
CTSZ
CTTN
CTTNBP2
CTTNBP2NL
CTU2
CTXN2
CTXN3
CUBN
CUEDC1
CUEDC2
CUL1
CUL2
CUL3
CUL4B
CUL5
CUL7
CUL9
Currarino syndrome
Currarino Triad Test
CustomNext - Epilepsy
CustomNext-Cancer
CustomNext-Cardio
CUTA
Cutaneomucosal venous malformations
Cutaneous telangiectasia and cancer syndrome, familial
CUTC
Cutis laxa NGS panel
Cutis laxa panel
Cutis laxa type 1A, autosomal recessive
Cutis laxa type 1B, autosomal recessive
Cutis laxa type 1C, autosomal recessive
Cutis laxa type 2, autosomal dominant
Cutis laxa type 2A, autosomal recessive
Cutis laxa type 2B, autosomal recessive
Cutis laxa type 3A, autosomal recessive
Cutis laxa type 3B, autosomal recessive
Cutis laxa, autosomal dominant
Cutis laxa, autosomal dominant 1 (ADCL1)
Cutis laxa, autosomal dominant 2 and autosomal recessive, type IA (ADCL2)
Cutis laxa, autosomal recessive 1B (ARCL1B)
Cutis laxa, autosomal recessive IC (ARCL1C)
Cutis laxa, autosomal recessive IIA (ARCL2A)
Cutis laxa, autosomal recessive IIIA (ARCL3A)
Cutis laxa, autosomal recessive, type IIB and type IIIB (ARCL2B) (ARCL3B)
CUX2
CUZD1
CWC15
CWC22
CWC25
CWF19L1
CWH43
CX3CL1
CX3CR1
CXADR
CXCL1
CXCL10
CXCL11
CXCL12
CXCL13
CXCL16
CXCL17
CXCL2
CXCL3
CXCL5
CXCL6
CXCL8
CXCL9
CXCR1
CXCR2
CXCR3
CXCR4
CXCR5
CXCR6
CXorf21
CXorf36
CXorf40A
CXorf40B
CXorf65
CXorf66
CXorf67
CXXC1
CXXC5
Cyanosis, transient neonatal
CYB561
CYB561A3
CYB561D2
CYB5A
CYB5D1
CYB5D2
CYB5R1
CYB5R2
CYB5R3
CYB5R4
CYB5RL
CYBA
CYBB
CYBRD1
CYCS
CYFIP1
CYFIP2
CYHR1
CYLC1
CYLC2
CYLD
Cylindromatosis, familial
CYP11A1
CYP11B1
CYP11B1 Gene Sequencing
CYP11B2
CYP17A1
CYP17A1 Gene Sequencing
CYP17A1 Sequence and Deletion/Duplication Analysis
CYP19A1
CYP19A1 Gene Sequencing
CYP1A1
CYP1A2
CYP1B1
CYP1B1-Related Primary Congenital Glaucoma Test
CYP21A2
CYP21A2 Deletions/Duplications and Sequencing
CYP24A1
CYP26A1
CYP26B1
CYP27A1
CYP27B1
CYP27C1
CYP2A13
CYP2A6
CYP2A7
CYP2B6
CYP2C18
CYP2C19
CYP2C19 related poor drug metabolism
CYP2C8
CYP2C9
CYP2D6
CYP2D6 Genotyping
CYP2E1
CYP2F1
CYP2G1P
CYP2J2
CYP2R1
CYP2U1
CYP2W1
CYP39A1
CYP3A4
CYP3A43
CYP3A5
CYP3A7
CYP3A7-CYP3A51P
CYP3AP1
CYP46A1
CYP4A11
CYP4A22
CYP4B1
CYP4F11
CYP4F12
CYP4F2
CYP4F22
CYP4F3
CYP4F8
CYP4V2
CYP4X1
CYP4Z1
CYP51A1
CYP7A1
CYP7B1
CYR61
CYSLTR1
CYSLTR2
CYSRT1
Cystathioninuria
Cystic Fibrosis
Cystic Fibrosis (CFTR gene sequence and deletion/duplication concurrent)
Cystic Fibrosis (CFTR gene sequence with reflex to deletion/duplication)
Cystic Fibrosis (CFTR Sequencing)
Cystic Fibrosis (CFTR)
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing and Reflex to Deletion/Duplication
Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication
Cystic Fibrosis (Full Sequence and del/dup)
Cystic Fibrosis and Related Diseases NGS Panel
Cystic Fibrosis CFTR / Mucoviscidosis / CFTR-Related Disorders
Cystic Fibrosis Panel
Cystic Fibrosis Related Disorders NGS Panel (excludes CFTR)
Cystic Fibrosis, CFTR, Sequencing and Del/Dup Analysis
Cystic Fibrosis: CFTR Common Mutation Panel
Cystic Fibrosis: CFTR Expanded Mutation Panel
Cystic Fibrosis: CFTR Gene Sequencing
Cystic Fibrosis; CF, Mucoviscidosis CFTR
Cystic Kidney Disease Panel
Cystic Lung Disease NGS Panel
Cystic Lung Disease Panel
Cystic Lung Disease Panel (8 Genes)
Cystic Lung Disease: Sequencing Panel
Cystinosis, nephropathic
Cystinuria
Cystinuria Panel
Cystinuria Test
CYSTM1
CYTH1
CYTH2
CYTH3
CYTH4
CYTIP
Cytochrome P450 2D6 (CYP2D6) Comprehensive Cascade, Blood
Cytochrome P450 deficiency
Cytochrome P450 Oxidoreductase Analysis (POR Sequencing)
Cytochrome P450 Oxidoreductase Deficiency
Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood
Czech Dysplasia
 

D 

D-2-hydroxyglutaric aciduria (deletion/duplication analysis of D2HGDH gene)
D-2-hydroxyglutaric aciduria type 1
D-2-hydroxyglutaric aciduria type 2
D-bifunctional protein deficiency
D-glyceric aciduria
D2HGDH
DAAM1
DAAM2
DAB1
DAB2
DAB2IP
DACT1
DACT2
DAD1
DAG1
DAGLA
DAGLB
DAND5
Danon disease
Danon Disease Test
Danon Disease: LAMP2 Gene Sequencing
DAO
DAOA
DAP
DAP3
DAPK1
DAPK2
DAPK3
DAPL1
DAPP1
DARS2
DARS2 Sequence and Deletion/Duplication Analysis
DAXX
DAZAP2
DAZL
DBANext -Diamond-Blackfan Anemia Panel
DBF4
DBF4B
DBH
DBI
DBNDD2
DBNL
DBR1
DBT
DBT Gene Sequencing
DBT Sequence and Deletion/Duplication Analysis
DBX1
DCAF10
DCAF11
DCAF12
DCAF12L1
DCAF12L2
DCAF13
DCAF15
DCAF16
DCAF17
DCAF4
DCAF4L1
DCAF4L2
DCAF5
DCAF6
DCAF7
DCAF8
DCAF8L1
DCAF8L2
DCAKD
DCANP1
DCBLD2
DCC
DCD
DCDC1
DCDC2
DCDC2B
DCDC5
DCHS1
DCHS2
DCK
DCLK1
DCLRE1A
DCLRE1B
DCLRE1C
DCLRE1C Gene Sequencing and Deletion
DCM and DMD related Cardiomyopathy Panel
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)
DCMNext - Dilated Cardiomyopathy Panel
DCN
DCP1A
DCP1B
DCP2
DCPS
DCST1
DCST2
DCSTAMP
DCT
DCTD
DCTN1
DCTN2
DCTN3
DCTN4
DCTN5
DCUN1D1
DCUN1D2
DCUN1D3
DCUN1D5
DCX
DCX-Related Disorders Test
DCXR
DDA1
DDAH1
DDAH2
DDB1
DDB2
DDC
DDHD1
DDHD2
DDI1
DDIAS
DDIT3
DDIT4
DDIT4L
DDN
DDO
DDOST
DDR1
DDR2
DDRGK1
DDX1
DDX10
DDX11
DDX17
DDX18
DDX19A
DDX20
DDX21
DDX23
DDX24
DDX25
DDX27
DDX28
DDX31
DDX39A
DDX39B
DDX3X
DDX4
DDX41
DDX42
DDX43
DDX46
DDX47
DDX49
DDX5
DDX50
DDX52
DDX53
DDX54
DDX55
DDX56
DDX58
DDX59
DDX6
DDX60
DDX60L
De Sanctis-Cacchione syndrome
DEAF1
Deafness and male infertility
Deafness and male infertility, CATSPER2 related
Deafness with keratopachydermia and constrictions of fingers and toes
Deafness, autosomal dominant type 1
Deafness, autosomal dominant type 10
Deafness, autosomal dominant type 11
Deafness, autosomal dominant type 12
Deafness, autosomal dominant type 13
Deafness, autosomal dominant type 15
Deafness, autosomal dominant type 17
Deafness, autosomal dominant type 20
Deafness, autosomal dominant type 22
Deafness, autosomal dominant type 23
Deafness, autosomal dominant type 25
Deafness, autosomal dominant type 28
Deafness, autosomal dominant type 2A
Deafness, autosomal dominant type 2B
Deafness, autosomal dominant type 36
Deafness, autosomal dominant type 39, with dentinogenesis type 1
Deafness, autosomal dominant type 3A
Deafness, autosomal dominant type 3B
Deafness, autosomal dominant type 4
Deafness, autosomal dominant type 40
Deafness, autosomal dominant type 44
Deafness, autosomal dominant type 48
Deafness, autosomal dominant type 4B
Deafness, autosomal dominant type 5
Deafness, autosomal dominant type 50
Deafness, autosomal dominant type 52
Deafness, autosomal dominant type 6
Deafness, autosomal dominant type 64
Deafness, autosomal dominant type 65
Deafness, autosomal dominant type 9
Deafness, autosomal recessive
Deafness, autosomal recessive type 15
Deafness, autosomal recessive type 16
Deafness, autosomal recessive type 18
Deafness, autosomal recessive type 1A
Deafness, autosomal recessive type 1B
Deafness, autosomal recessive type 2
Deafness, autosomal recessive type 22
Deafness, autosomal recessive type 23
Deafness, autosomal recessive type 24
Deafness, autosomal recessive type 25
Deafness, autosomal recessive type 28
Deafness, autosomal recessive type 29
Deafness, autosomal recessive type 3
Deafness, autosomal recessive type 30
Deafness, autosomal recessive type 31
Deafness, autosomal recessive type 35
Deafness, autosomal recessive type 36
Deafness, autosomal recessive type 39
Deafness, autosomal recessive type 4
Deafness, autosomal recessive type 42
Deafness, autosomal recessive type 48
Deafness, autosomal recessive type 49
Deafness, autosomal recessive type 53
Deafness, autosomal recessive type 59
Deafness, autosomal recessive type 6
Deafness, autosomal recessive type 61
Deafness, autosomal recessive type 63
Deafness, autosomal recessive type 66
Deafness, autosomal recessive type 67
Deafness, autosomal recessive type 7
Deafness, autosomal recessive type 70
Deafness, autosomal recessive type 74
Deafness, autosomal recessive type 76
Deafness, autosomal recessive type 77
Deafness, autosomal recessive type 79
Deafness, autosomal recessive type 8/10
Deafness, autosomal recessive type 84
Deafness, autosomal recessive type 86
Deafness, autosomal recessive type 89
Deafness, autosomal recessive type 9
Deafness, autosomal recessive type 91
Deafness, autosomal recessive type 93
Deafness, congenital with inner ear agenesis, microtia, and microdontia
Deafness, DFNB1
Deafness, dystonia, and cerebral hypomyelination, X-linked
Deafness, non-syndromic sensorineural autosomal dominant panel
Deafness, non-syndromic sensorineural autosomal recessive panel
Deafness, X-linked type 1
Deafness, X-linked type 2
Deafness, X-linked type 4
Deafness, X-linked type 5
Deafness, X-linked type 6
Deafness-Dystonia-Optic Neuronopathy Syndrome: TIMM8A Gene Sequencing
DEC1
DECR1
DECR1 Sequence and Deletion/Duplication Analysis
DECR2
DEDD2
DEF6
DEF8
DEFA5
DEFA6
DEFB1
DEFB108B
DEFB110
DEFB112
DEFB114
DEFB116
DEFB118
DEFB119
DEFB121
DEFB124
DEFB125
DEFB126
DEFB127
DEFB128
DEFB129
DEFB131
DEFB132
DEFB133
DEFB135
DEFB136
DEGS2
Dehydrated hereditary stomatocytosis
Dehyrodolichyl Diplhosphate Synthase (DHDDS Sequencing)
Dejerine-Sottas disease
Dejerine-Sottas syndrome panel
Delta-beta thalassemia
Delta-beta thalassemia (HBB deletion/duplication analysis of HBB gene)
Dementia all Panel
Dementia Panel
Dementia with Lewy bodies (deletion/duplication analisis on SNCA gene)
Dementia, familial, British type
Dementia, familial, Danish type
Dementia, frontotemporal
Dementia, Lewy body
Demyelinating CMT Panel
DENND1B
DENND2A
DENND2C
DENND2D
DENND3
DENND4A
DENND4B
DENND4C
DENND5A
DENND5B
DENND6A
DENND6B
DENR
Dense Bone Dysplasia NGS panel
Dense Deposit Disease Genetic Evaluation
Dent disease
Dent disease type 2
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia, type 2
Dentinogenesis imperfecta, Shields type 2
Dentinogenesis imperfecta, Shields type 3
Denys-Drash syndrome (WT1)
DEPDC1
DEPDC4
DEPDC5
DEPDC7
DERA
DERL1
DERL3
Dermatitis, atopic type 2
Dermatopathia pigmentosa reticularis
DES
DES-Related Dilated Cardiomyopathy Test
Desbuquois dysplasia 1 (DBQD)
Desbuquois dysplasia 2 (DBQD2)
Desbuquois dysplasia and related disorders NGS panel
Desbuquois dysplasia core NGS panel
Desbuquois dysplasia type 1
Desbuquois dysplasia type 2
DESI1
Desminopathy Test
Desmoid disease, hereditary
Desmosterolosis
DET1
Detection by FISH of cen 13/21
Detection by FISH of Down syndrome
Detection by FISH of EGFR
Detection by FISH of HER2
Detection by FISH of IGH
Detection by FISH of Miller-Dieker syndrome
Detection by FISH of PDGFRB (5q32) rearrangements
Detection by FISH of subtelomeric rearrangements
Detection by FISH of t(17;22) COL1A1/PDGFB
Detection of frequent aneuploidies (QF-PCR)
Detection of mutation c.1363C>T on the KRIT1 gene
Detection of mutation c.442C>T in the NRDG1 gene
Detection of mutation c.46C>T of the F12 gene
Detection of mutation c.617G>A (Arg206His) in the ACVR1 gene
Detection of mutation c.6331del27 in the AMHR2 gene
Detection of mutation c.75_76delGT in the NCF1 gene
Detection of mutation p.Lys650Glu in the FGFR3 gene
Detection of mutation P250R mutation in the FGFR3 gene
Detection of mutation Q12* in the AMPD1 gene
Detection of mutation R506Q in the F5 (Factor V) gene
Detection of mutation R50X, G205S and W798R in the PYGM gene
Detection of mutation V30M in the TTR gene
Detection of mutations 11778G>A, 14484T>C and 3460G>A in the mitochondrial complex (subunits MTND4, MTND6 and MTND1)
Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MTND5 mitochondrial gene
Detection of mutations 3243A>G, 3256T>C and 3252A>G in the mitochondrial gene MTTL1
Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MTTK
Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MTATP6
Detection of mutations A149P, A174D, N334K in the ALDOB gene
Detection of mutations Arg3500Gln and Arg3531Cys in the APOB gene
Detection of Mutations c.1277insTATC, c.1421+1G>C and c.805G>A (G269S) in the HEXA gene
Detection of mutations c.6594delT and c.5254C>T in the SACS gene
Detection of mutations C282Y, H63D and S65C in the HFE gene
Detection of mutations E148Q, G167A and T267I in the MEFV gene
Detection of mutations G2019S and R1441G in the gene LRRK2
Detection of mutations M680I, V726A, M694V, M694I, K695R, A744S, R761H, 692del, A653H and A408G in MEFV gene
Detection of mutations p.Ala467Thr, p.Trp748Ser and p.Gly848Ser in the POLG gene
Detection of mutations p.Arg248Cys, p.Ser249Cys, p.Gly370Cys, p.Ser371Cys, p.Tyr373Cys, p.Lys650Met c.2419T>G, c.2420G>T and c.2421A>N of the FGFR3 gene
Detection of mutations p.Asn409Ser, p.Val433Leu, p. Arg535His, pLeu29AlafsX18, p.Leu444Pro, c.IVS2+1G>A in the GBA gene
Detection of mutations R528H, R528G, R1239H and R1239G on the CACNA1S gene
Detection of mutations S252W and P253R in the FGFR2 gene
Detection of mutations, p.C737X and p.R1109X in SH3TC2 gene, p.R148X in NDRG1 gene and c.-40237G>C in HK1 gene
Detection of polymorphism A222V in the MTHFR gene
Detection of Pro250Arg mutation in FGFR3 gene
Detection of specific mutations
Detection of the 1138G>A, 1138G>C and 1123G>T mutations in the FGFR3 gene
Detection of the 20210G>A mutation in the F2 gene
Detection of the 35delG mutation in the GJB2 gene (Connexin 26)
Detection of the c.1100delC mutation in the CHEK2 gene
Detection of the c.1105C>T mutation in the WRN gene
Detection of the c.319+1G>A mutation in the CHEK2 gene
Detection of the c.460_461insA mutation in the FTL gene
Detection of the G309D mutation in the PINK1 gene
Detection of the m.1555A>G mutation in the mitochondrial gene MTRNR1
Detection of the most frequent mutations in the SLC26A4
Detection of the most frequent mutations on the CYP21A2 gene (including MLPA)
Detection of the poly-T polymorphism, associated with male infertility
Detection of the R50X mutation in the PYGM gene
Detection of the S25X mutation in the MCPH1 gene
Detection of the V600E mutation in the BRAF gene
Determination of the genotype HLA DQ2, DQ8
Developmental delay and microcephaly, SLC1A4 related
Developmental delay, GNAQ related
Developmental delay, KMT2C related
DEXI
DFFA
DFFB
DFNA5
DFNB59
DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness Test
DGAT1
DGAT2
DGCR14
DGCR2
DGCR6
DGCR6L
DGCR8
DGKA
DGKD
DGKE
DGKG
DGKK
DGS/VCFS Deletion FISH Analysis
DGUOK
DGUOK Sequence analysis
DGUOK Sequence and Deletion/Duplication Analysis
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form Test
DGUOk-related mitochondrial hepatopathy test
DHCR24
DHCR7
DHDDS
DHDDS Sequence and Deletion/Duplication Analysis
DHDH
DHFR
DHFRL1
DHH
DHH Gene Sequencing
DHODH
DHPS
DHRS1
DHRS12
DHRS13
DHRS2
DHRS3
DHRS4
DHRS4L1
DHRS7B
DHRS7C
DHRS9
DHTKD1
DHX15
DHX16
DHX29
DHX30
DHX32
DHX33
DHX34
DHX35
DHX36
DHX37
DHX38
DHX57
DHX58
DHX8
DHX9
DI-CMTB
DI-CMTC
DI-CMTD
Diabetes Insipidus Panel
Diabetes insipidus, nephrogenic, autosomal
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, neurohypophyseal
Diabetes Mellitus (ABCC8 Sequencing)
Diabetes mellitus type 1
Diabetes Mellitus, 6q24-Related Transient Neonatal
Diabetes mellitus, insulin-dependent type 20
Diabetes mellitus, insulin-resistant with acanthosis nigricans
Diabetes mellitus, neonatal
Diabetes mellitus, noninsulin-dependent
Diabetes mellitus, permanent neonatal
Diabetes mellitus, transient neonatal type 2
Diabetes neonatal panel
Diabetes, IGF2 related
Diabetes-Obesity NGS Panel
DIABLO
Diamond-Blackfan Anaemia
Diamond-Blackfan anemia (deletion/duplication analysis on RPS19 gene)
Diamond-Blackfan Anemia NGS Panel
Diamond-Blackfan anemia panel
Diamond-Blackfan anemia type 1
Diamond-Blackfan anemia type 10
Diamond-Blackfan anemia type 11
Diamond-Blackfan anemia type 12
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis
Diamond-blackfan anemia type 3
Diamond-Blackfan anemia type 4
Diamond-Blackfan anemia type 5
Diamond-Blackfan anemia type 6
Diamond-Blackfan anemia type 7
Diamond-Blackfan anemia type 8
Diamond-Blackfan anemia type 9
Diamond-Blackfan Syndrome-RPS19 Seq+MLPA
DIAPH1
DIAPH2
DIAPH3
Diaphanospondylodysostosis
Diaphragmatic hernia type 3
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diarrhea type 1, secretory chloride, congenital
Diarrhea type 2 with microvillus atrophy
Diarrhea type 4, malabsorptive, congenital
Diarrhea type 6
Diastrophic dysplasia (DTD)
DICER1
DIDO1
DIEXF
Diffuse Lung Disease Comprehensive NGS Panel
DiGeorge syndrome
DiGeorge syndrome (DiGeorge Syndrom)
Digital arthropathy-brachydactyly, familial (FDAB)
Dihydrofolate Reductase (DHFR Sequencing)
Dihydrolipoamide Dehydrogenase Deficiency (DLD Sequencing)
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidinuria
Dilated Cardiomyopathy (DCM) Panel
Dilated Cardiomyopathy NGS Panel
Dilated Cardiomyopathy with Quadriceps Myopathy Test
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
Dilated Cardiomyopathy: Sequencing Panel
Dimethylglycine dehydrogenase deficiency
DIMT1
DIO1
DIO2
DIO3
DIP2A
DIP2B
DIP2C
DIRAS1
DIRAS2
DIRAS3
DIRC1
DIRC2
DIS3
DIS3L
DIS3L2
DISC1
DISP1
DISP2
Disproportionate Short Stature: Sequencing Panel
Distal arthrogryposes NGS panel
Distal Arthrogryposis Syndromes NGS Panel
Distal Hereditary Motor Neuronopathy Type VIIB Test
Distal Hereditary Motor Neuronopathy, Type IIA Test
Distal Hereditary Motor Neuronopathy, Type IIB Test
Distal Hereditary Motor Neuronopathy, Type IIC Test
Distal hereditary motor neuropathy and related disorders NGS panel
Distal Hereditary Motor Neuropathy NGS Panel
Distal Hereditary Myopathy NGS Panel
Distal Myopathy NGS Panel
DIXDC1
DJ1
DJ1(PARK7) - Gene Sequencing and CNV analysis
DKC1
DKK2
DKK3
DKK4
DKKL1
DLAT
DLAT Sequence and Deletion/Duplication Analysis
DLAT(Pyruvate DeHydrogenase component E2) Sequence analysis
DLC1
DLD
DLD (Pyruvate DeHydrogenase component E3) Sequence analysis
DLD Gene Sequencing
DLD Sequence and Deletion/Duplication Analysis
DLEC1
DLEU7
DLG2
DLG3
DLG5
DLGAP1
DLGAP2
DLGAP3
DLGAP4
DLGAP5
DLK1
DLK2
DLL1
DLL3
DLL4
DLST
DLX3
DLX5
DLX6
DMAP1
DMBX1
DMC1
DMD
DMD-Associated Dilated Cardiomyopathy
DMD-Related Dilated Cardiomyopathy
DMD-Related Dilated Cardiomyopathy Test
DMGDH
DMKN
DMP1
DMPK
DMRT1
DMRT3
DMRTA1
DMRTB1
DMTF1
DMTN
DMXL1
DMXL2
DNA2
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH10
DNAH11
DNAH12
DNAH14
DNAH17
DNAH2
DNAH3
DNAH5
DNAH6
DNAH7
DNAH8
DNAH9
DNAI1
DNAI2
DNAJA1
DNAJA2
DNAJA3
DNAJA4
DNAJB1
DNAJB12
DNAJB13
DNAJB14
DNAJB2
DNAJB4
DNAJB5
DNAJB6
DNAJB7
DNAJB8
DNAJB9
DNAJC1
DNAJC10
DNAJC11
DNAJC13
DNAJC14
DNAJC16
DNAJC17
DNAJC19
DNAJC2
DNAJC21
DNAJC27
DNAJC28
DNAJC30
DNAJC4
DNAJC5
DNAJC5B
DNAJC5G
DNAJC6
DNAJC7
DNAJC8
DNAJC9
DNAL1
DNAL4
DNALI1
DNASE1
DNASE1L1
DNASE1L2
DNASE1L3
DNASE2
DNASE2B
DND1
DNHD1
DNM1
DNM1L
DNM2
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy Test
DNM3
DNMBP
DNMT1
DNMT3A
DNMT3B
DNMT3L
DNPEP
DNTT
DNTTIP2
DOC2A
DOCK1
DOCK10
DOCK2
DOCK3
DOCK4
DOCK5
DOCK6
DOCK7
DOCK8
DOCK8 Gene Sequencing and Del/Dup
DOCK9
DOHH
DOK1
DOK2
DOK3
DOK4
DOK5
DOK6
DOK7
DOK7-Related Congenital Myasthenic Syndrome Test
Dolichoectasia panel
DOLK
DOLK Sequence and Deletion/Duplication Analysis
DOLPP1
Donnai-Barrow syndrome
DOOR syndrome
Dopa-responsive dystonia panel
Dopamine beta-hydroxylase (DBH) deficiency
DOPEY1
DOPEY2
DOT1L
Doyne honeycob retinal dystrophy
DPAGT1
DPCD
DPCR1
DPD Gene Sequencing and RFLP
DPEP1
DPEP2
DPEP3
DPF2
DPH1
DPH2
DPH3
DPH3P1
DPH5
DPH6
DPH7
DPM1
DPM1 Sequence and Deletion/Duplication Analysis
DPM3
DPM3 Sequence and Deletion/Duplication Analysis
DPP10
DPP3
DPP4
DPP6
DPP8
DPP9-AS1
DPPA2
DPPA3
DPPA4
DPPA5
DPRX
DPT
DPY19L2
DPY19L3
DPY30
DPYD
DPYS
DPYSL2
DPYSL3
DPYSL5
DQX1
DR1
DRAM1
DRAM2
DRAP1
Dravet syndrome
Dravet syndrome panel
Dravet syndrome, modifier of
DRAXIN
DRC1
DRC3
DRC7
DRD1
DRD2
DRD3
DRD4
DRD5
DRG1
DRG2
DRICH1
DROSHA
DRP2
DSC1
DSC2
DSC3
DSCAM
DSCAML1
DSCR3
DSCR4
DSCR8
DSE
DSEL
DSG1
DSG2
DSG3
DSG4
DSN1
DSP
DSPP
DST
DSTN
DSTYK
DTD1
DTHD1
DTNA
DTNB
DTNBP1
DTWD1
DTX2
DTX3
DTX3L
DTX4
DTYMK
Duane Retraction syndrome
Duane-radial ray syndrome (deletion/duplication analysis on SALL4 gene)
Dubin-Johnson syndrome
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) Test
Duchenne/Becker muscular dystrophy
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing
Duchenne/Becker muscular dystrophy (DMD/BMD), Deletions/Duplications and Sequencing
Duchenne/Becker Muscular Dystrophy (NextGen Sequencing Panel and Copy Number Analysis; 1 Gene)
Duchenne/Becker Muscular Dystrophy: DMD Gene Sequencing
DUOX1
DUOX2
DUOXA1
DUOXA2
DUPD1
DUS1L
DUS2
DUS3L
DUS4L
DUSP10
DUSP11
DUSP12
DUSP13
DUSP14
DUSP15
DUSP16
DUSP18
DUSP19
DUSP21
DUSP22
DUSP23
DUSP26
DUSP27
DUSP5
DUSP6
DUT
DUXA
DVL1
DVL2
DVL3
DXO
DYDC2
Dyggve-Melchior-Clausen disease
Dyggve-Melchior-Clausen disease (DMC)
DYM
DYNAP
DYNC1H1
DYNC1I2
DYNC1LI1
DYNC1LI2
DYNC2H1
DYNC2LI1
DYNLL1
DYNLL2
DYNLRB2
DYNLT1
DYRK1A
DYRK2
DYRK3
DYRK4
Dysautonomia (IKBKAP Sequencing)
Dysautonomia, FRRS1L-related
Dyschromatosis symmetrica hereditaria
Dyserythropoietic anemia
Dyserythropoietic anemia, congenital, type 1B
Dyserythropoietic anemia, congenital, type 3
Dyserythropoietic anemia, congenital, type 4
DYSF
Dyskeratosis Congenita (RTEL1 Sequencing)
Dyskeratosis Congenita NGS Panel
Dyskeratosis Congenita Panel
Dyskeratosis congenita, autosomal dominant type 1
Dyskeratosis congenita, autosomal recessive type 1
Dyskeratosis congenita, autosomal recessive type 2
Dyskeratosis congenita, autosomal recessive type 5
Dyskeratosis congenita, autosomal recessive type 6
Dyskeratosis congenita, X-linked
Dyskeratosis Congenita, X-linked: DKC1 Gene Sequencing
Dyskinesia, familial, with facial myokymia
Dyslexia
Dysprothrombinemia
Dyssegmental dysplasia, Silverman-Handmaker type
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)
Dystonia Dyskinesia NGS Panel
Dystonia juvenile-onset
Dystonia type 23
Dystonia, DOPA-responsive, autosomanl recessive
Dystonia-deafness syndrome
Dystonia: Sequencing Panel
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel
Dystrophinopathies Test
DYT1
DYT10
DYT11
DYT11, DRD2 related
DYT12
DYT16
DYT18
DYT2
DYT24
DYT25
DYT26, myoclonic
DYT27
DYT3
DYT4
DYT5A
DYT6
DYTN
DZANK1
DZIP1
DZIP1L
DZIP3
 

E 

E-cadherin gene (deletion/duplication analysis of CDH1 gene)
E2F3
E2F4
E2F6
E2F7
E2F8
E4F1
EAF1
EAPP
Early Infantile Epileptic Encephalopathy Panel
Early Infantile Epileptic Encephalopathy Panel plus MLPA (15 genes)
Early infantile epileptic encephalopathy type 1
Early infantile epileptic encephalopathy type 10
Early Infantile Epileptic Encephalopathy Type 10: PNKP Gene Sequencing
Early infantile epileptic encephalopathy type 11
Early infantile epileptic encephalopathy type 12
Early infantile epileptic encephalopathy type 13
Early infantile epileptic encephalopathy type 14
Early infantile epileptic encephalopathy type 15
Early infantile epileptic encephalopathy type 16
Early infantile epileptic encephalopathy type 19
Early infantile epileptic encephalopathy type 2
Early infantile epileptic encephalopathy type 20
Early infantile epileptic encephalopathy type 21
Early infantile epileptic encephalopathy type 23
Early infantile epileptic encephalopathy type 24
Early infantile epileptic encephalopathy type 25
Early infantile epileptic encephalopathy type 26
Early infantile epileptic encephalopathy type 27
Early infantile epileptic encephalopathy type 28
Early infantile epileptic encephalopathy type 29
Early infantile epileptic encephalopathy type 3
Early infantile epileptic encephalopathy type 30
Early infantile epileptic encephalopathy type 31
Early infantile epileptic encephalopathy type 32
Early infantile epileptic encephalopathy type 33
Early infantile epileptic encephalopathy type 4
Early infantile epileptic encephalopathy type 5
Early infantile epileptic encephalopathy type 6
Early infantile epileptic encephalopathy type 7
Early infantile epileptic encephalopathy type 8
Early infantile epileptic encephalopathy type 9
Early Onset Epileptic Encephalopathy Panel
Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel
Early onset Inflammatory Bowel Disease: Sequencing Panel
EARS2
EBAG9
EBF1
EBF2
EBLN1
EBLN2
EBNA1BP2
EBP
EBPL
ECE1
ECE2
ECEL1
ECH1
ECHDC1
ECHDC2
ECHS1
ECI1
ECI2
ECM1
ECM2
ECSCR
ECSIT
ECT2
ECT2L
Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3
Ectodermal Dysplasia 1, Hypohidrotic, X-linked (XHED)
Ectodermal Dysplasia NGS Panel
Ectodermal Dysplasia Panel
Ectodermal dysplasia type 4, hair/nail type
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Ectodermal dysplasia, hidrotic
Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, X-linked
Ectodermal dysplasia/skin fragility syndrome
Ectopia lentis et pupillae
Ectopia lentis NGS panel
Ectopia Lentis, Isolated Test
Ectopia lentis, isolated, autosomal dominant
Ectopia lentis, isolated, autosomal recessive
EDA
EDA1 Gene Sequencing and Del/Dup (Female)
EDA2R
EDAR
EDARADD
EDC3
EDC4
EDDM3A
EDDM3B
EDEM1
EDEM2
EDEM3
EDF1
EDN1
EDN2
EDN3
EDNRA
EDNRB
EDRF1
EEA1
EEF1A1
EEF1B2
EEF1D
EEF1G
EEF2
EEF2K
EEF2KMT
EEFSEC
EEPD1
Efavirenz, poor metabolism of
EFCAB11
EFCAB12
EFCAB13
EFCAB2
EFCAB3
EFCAB5
EFCAB6
EFCAB9
EFCC1
EFEMP1
EFEMP2
EFEMP2 Gene Sequencing
EFHB
EFHC1
EFHC2
EFNA1
EFNA4
EFNA5
EFNB1
EFNB2
EFR3A
EFR3B
EFTUD1
EFTUD2
EGF
EGFL7
EGFL8
EGFLAM
EGFR
EGLN1
EGLN2
EGLN3
EGR1
EGR2
EGR3
EHBP1
EHBP1L1
EHD1
EHD2
EHD3
EHD4
EHF
EHHADH
Ehlers-Danlos syndrome and related disorders panel
Ehlers-Danlos syndrome core NGS panel
Ehlers-Danlos syndrome due to tenascin X deficiency, AR (deletion/duplication analysis of TNXB gene)
Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
Ehlers-Danlos Syndrome NGS Panel
Ehlers-Danlos syndrome NGS panel - Dominant
Ehlers-Danlos syndrome NGS panel - Dominant and Recessive
Ehlers-Danlos syndrome NGS panel - Recessive
Ehlers-Danlos Syndrome Panel
Ehlers-Danlos syndrome type 1/2
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome type 7C
Ehlers-Danlos syndrome type I (deletion/duplication analysis of COL5A1 gene)
Ehlers-Danlos Syndrome Type IV Test
Ehlers-Danlos syndrome type VI (deletion/duplication analysis of PLOD1 gene)
Ehlers-Danlos Syndrome Type VII (ADAMTS2 Sequencing)
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB)
Ehlers-Danlos Syndrome, Classic Type (Type I/II, COL5A1, COL5A2)
Ehlers-Danlos syndrome, classic type NGS panel
Ehlers-Danlos Syndrome, Kyphoscoliotic Form Test
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 1
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome, progeroid type 1
Ehlers-Danlos Syndrome, Progeroid Type 1/2 (EDSP1/ EDSP2)
Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1)
Ehlers-Danlos syndrome, progeroid type, type 2
Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS)
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) - (COL5A1)
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) - (COL5A2)
Ehlers-Danlos syndrome, type IV (EDS IV)
Ehlers-Danlos Syndrome, Type IV (Vascular Type, COL3A1)
Ehlers-Danlos syndrome, type VI (EDS VI)
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
Ehlers-Danlos-Syndrome
EHMT1
EHMT2
EI24
EID1
EID2
EID2B
EID3
EIF1
EIF1AD
EIF2A
EIF2AK1
EIF2AK2
EIF2AK3
EIF2AK4
EIF2B1
EIF2B2
EIF2B3
EIF2B3 Sequencing
EIF2B4
EIF2B5
EIF2D
EIF2S1
EIF2S2
EIF3A
EIF3D
EIF3G
EIF3H
EIF3J
EIF3K
EIF3L
EIF3M
EIF4A1
EIF4A2
EIF4A3
EIF4B
EIF4E
EIF4E2
EIF4EBP3
EIF4ENIF1
EIF4G1
EIF4G2
EIF4G3
EIF4H
EIF5
EIF5A
EIF5AL1
EIF5B
EIF6
Eiken Syndrome
ELAC1
ELAC2
ELANE
ELAVL1
ELAVL2
ELAVL3
ELAVL4
ELF1
ELF2
ELF3
ELF4
ELF5
ELFN1
ELFN2
ELK1
ELK3
ELK4
ELL2
ELL3
Elliptocytosis 2 Test
Elliptocytosis 3 Test
Ellis-van Creveld syndrome
Ellis-Van Creveld Syndrome NGS Panel
Ellis-van Creveld Syndrome Test
ELMO1
ELMO2
ELMO3
ELMOD1
ELMOD3
ELMSAN1
ELN
ELN - Gene Sequencing and CNV analysis
ELN FISH
ELN-related Disorders: ELN Gene Sequencing
ELOF1
ELOVL1
ELOVL2
ELOVL3
ELOVL4
ELOVL5
ELOVL6
ELOVL7
ELP2
ELP3
ELP4
ELP5
ELP6
ELSPBP1
EMB
Emberger syndrome
EMC1
EMC3
EMC4
EMC6
EMC8
EMC9
EMCN
EMD
EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked Test
EME1
EME2
Emery-Dreifuss Muscular Dystophy, X-linked: EMD Gene Sequencing
Emery-Dreifuss Muscular Dystrophy Panel
Emery-Dreifuss muscular dystrophy type 1
Emery-Dreifuss muscular dystrophy type 2
Emery-Dreifuss muscular dystrophy type 6
EMG1
EMILIN1
EMILIN2
EMILIN3
EML1
EML2
EML3
EML4
EML5
EML6
EMP1
EMP2
EMP3
EMX2
EN1
EN2
ENAM
ENC1
Encephalopathy acute necrotizing type 1
Encephalopathy lethal, due to defective mitochondrial peroxisomal fission
Encephalopathy mitochondrial
Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency
Encephalopathy neonatal severe
Encephalopathy thiamine-responsive
Encephalopathy, familial, with neuroserpin inclusion bodies
Encephalopathy, progressive, with or without lipodystrophy
Endocrine Cancer: Sequencing Panel
Endocrine Disorders: Sequencing Panel
ENDOD1
Endometrial Cancer Comprehensive Panel
Endometrial Cancer Focus Panel
Endometrial Cancer Panel
Endometrial cancer, familial, MSH6 related
ENDOU
ENDOV
Endplate acetylcholinesterase deficiency
ENG
ENG-Related Hereditary Hemorrhagic Telangiectasia
ENG-Related Hereditary Hemorrhagic Telangiectasia Test
ENHO
ENKD1
ENKUR
ENO1
ENO2
ENO3
ENO3 Sequence and Deletion/Duplication Analysis
ENO4
ENOPH1
ENOSF1
ENOX1
ENPEP
ENPP1
ENPP2
ENPP3
ENPP4
ENPP5
ENPP6
ENPP7
ENSA
Enterokinase deficiency
ENTHD1
ENTHD2
ENTPD1
ENTPD3
ENTPD4
ENTPD5
ENTPD6
ENTPD7
ENTPD8
ENY2
EOGT
EOMES
EP300
EP300-Related Rubinstein-Taybi Syndrome
EP400
EPAS1
EPB41
EPB41L1
EPB41L2
EPB41L3
EPB41L4A
EPB41L5
EPB42
EPB42 Gene Sequencing
EPC1
EPC2
EPCAM
EPCAM Mutation and Del/Dup Analysis
EPCAM-Related Lynch Syndrome Test
EPG5
EPGN
EPHA1
EPHA2
EPHA3
EPHA4
EPHA5
EPHA7
EPHA8
EPHB1
EPHB2
EPHB3
EPHB4
EPHB6
EPHX1
EPHX2
EPHX3
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica, autosomal dominant and recessive
Epidermolysis bullosa junctionalis with pyloric atresia
Epidermolysis Bullosa NGS Panel
Epidermolysis Bullosa NGS panel Comprehensive Test
Epidermolysis bullosa panel
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, autosomal recessive
Epidermolysis bullosa simplex, autosomal recessive type 1
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, LAMA3 related
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, nonspecific, autosomal recessive
Epidermolytic hyperkeratosis
Epidermolytic palmoplantar keratoderma
EpiFirst - Fever
EpiFirst - Focal (Non-Lesional Focal Epilepsy)
EpiFirst - IS (Infantile Spasms)
EpiFirst - Neonate
Epilepsy (absence) in childhood panel
Epilepsy (generalized) with febrile seizures panel
Epilepsy and Seizure Disorders: Sequencing Panel
Epilepsy and X-linked Mental Retardation Panel
Epilepsy with neurodevelopmental defects
Epilepsy, childhood absence type 2
Epilepsy, childhood absence type 4, susceptibility to
Epilepsy, childhood absence type 5
Epilepsy, childhood absence type 6, susceptibility to
Epilepsy, childhood absence, JRK related
Epilepsy, Childhood Absence, Susceptibility to, 2 Test
Epilepsy, familial focal with variable foci
Epilepsy, familial temporal lobe type 1
Epilepsy, familial temporal lobe type 5
Epilepsy, familial temporal lobe type 7
Epilepsy, focal, SCN3A related
Epilepsy, generalized with febrile seizures plus type 2 (deletion/duplication analysis of SCN1A gene)
Epilepsy, HCN2 related
Epilepsy, hearing loss, and mental retardation syndrome
Epilepsy, idiopathic generalized type 10
Epilepsy, idiopathic generalized type 11
Epilepsy, idiopathic generalized type 12
Epilepsy, juvenile absence type 1
Epilepsy, nocturnal frontal lobe
Epilepsy, nocturnal frontal lobe type 1
Epilepsy, nocturnal frontal lobe type 3
Epilepsy, nocturnal frontal lobe type 4
Epilepsy, progressive myoclonic 4, with or without renal failure
Epilepsy, progressive myoclonic type 5
Epilepsy, X-linked, with learning disabilities and behavior disorders
EpilepsyNext
Epileptic Encephalopathy (SCN1A gene)
Epileptic Encephalopathy (STXBP1 gene)
Epileptic encephalopathy panel
Epileptic encephalopathy, childhood-onset
Epileptic Encephalopathy, Early Infantile, 11 Test
Epileptic Encephalopathy, Early Infantile, 2 Test
Epileptic Encephalopathy, Early Infantile, 4 Test
Epileptic Encephalopathy, Early Infantile, 9 Test
Epileptic Encephalopathy, Early InfantileType 2, Deletions/Duplications and Sequencing
Epileptic encephalopathy, Lennox-Gastaut type
Epiphyseal dysplasia, multiple, type 1
Epiphyseal dysplasia, multiple, type 3
Epiphyseal dysplasia, multiple, type 5
Epiphyseal dysplasia, multiple, with myopia and deafness
EpiRapid - Rapid epilepsy test
Episodic ataxia panel
Episodic ataxia type 1
Episodic ataxia type 2
Episodic Ataxia Type 2 Test
Episodic ataxia type 5
Episodic ataxia type 6
Episodic pain syndrome type 2, familial
Episodic pain syndrome type 3, familial
EPM2A
EPM2AIP1
EPN1
EPN2
EPN3
EPO
EPOR
EPPIN
EPPIN-WFDC6
EPPK1
EPS15
EPS15L1
EPS8
EPS8L1
EPS8L2
EPS8L3
Epstein syndrome
EPSTI1
EPT1
EPX
EQTN
ERAL1
ERAP1
ERAP2
ERBB2
ERBB3
ERBB4
ERBIN
ERC1
ERC2
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
EREG
ERF
ERG
ERGIC1
ERGIC3
ERI2
ERICH1
ERICH3
ERICH5
ERICH6
ERICH6B
ERLEC1
ERLIN1
ERLIN2
ERMAP
ERMARD
ERMN
ERMP1
ERN1
ERN2
ERO1A
ERO1B
ERP27
ERP29
ERRFI1
ERV3-1
ERVMER34-1
ERVV-1
ERVV-2
Erythermalgia, primary
Erythrocyte lactate transporter defect
Erythrocytosis, familial type 1
Erythrocytosis, familial type 3
Erythrocytosis, familial type 4
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE
Erythrokeratodermia variabilis et progressive
Erythropoietic Protoporphyria, Autosomal Recessive
Erythropoietic Protoporphyria, Autosomal Recessive Test
ESAM
ESCO1
ESCO2
ESD
ESF1
ESM1
ESPL1
ESPN
ESPNL
ESR1
ESRP1
ESRP2
ESRRA
ESRRB
Essential Epilepsy Panel
Estrogen resistance
Estrogen Resistance (ESR1 Sequencing)
ESYT1
ESYT2
ESYT3
ETAA1
ETF1
ETFA
ETFA Gene Sequencing
ETFB
ETFB Gene Sequencing
ETFB Sequence and Deletion/Duplication Analysis
ETFDH
ETFDH Gene Sequencing
ETFDH Sequence and Deletion/Duplication Analysis
ETHE1
ETHE1 Gene Sequencing and Del/Dup
ETHE1 Sequence and Deletion/Duplication Analysis
Ethylmalonic encephalopathy
Ethylmalonic Encephalopathy Test
ETNK1
ETNK2
ETNPPL
ETS1
ETS2
ETV2
ETV3
ETV3L
ETV6
ETV7
EVA1A
EVA1B
EVA1C
EVC
EVC2
EVI2A
EVI2B
EVI5
EVI5L
EVL
EVPL
EVPLL
EWSR1
EXD1
EXD2
EXD3
Exfoliation syndrome, susceptibility to
EXO1
EXO5
EXOC1
EXOC2
EXOC3
EXOC3L1
EXOC3L4
EXOC4
EXOC5
EXOC6B
EXOC7
EXOC8
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
ExoNIM Aicardi - Goutieres Syndrome
ExoNIM Autism Spectrum Disorders
ExoNIM Charcot ­- Marie­ - Tooth Syndrome
ExoNIM Kabuki Syndrome
ExoNIM Plus Epìlepsy
ExonMIN RASopathies
EXOSC1
EXOSC10
EXOSC2
EXOSC3
EXOSC7
EXOSC8
EXOSC9
Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes)
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Exostoses, multiple, type I (EXT1)
Exostoses, multiple, type I and II (EXT1 / EXT2)
Exostoses, multiple, type II (EXT2)
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
Expanded Neuromuscular Disorders: Sequencing Panel
Expanded Polycystic Kidney Disease NGS Panel
Expanded RASopathy Panel (14 Genes)
EXPH5
EXT1
EXT1 and EXT2 Sequencing and Del/Dup
EXT2
EXTL1
EXTL2
EXTL3
Exudative vitreoretinopathy
Exudative vitreoretinopathy 1 (EVR1)
Exudative vitreoretinopathy 2, X-linked (EVR2)
Exudative vitreoretinopathy 4 (EVR4)
Exudative vitreoretinopathy 5 (EVR5)
Exudative vitreoretinopathy NGS panel
Exudative vitreoretinopathy type 2
Exudative vitreoretinopathy type 5
EYA1
EYA1 Gene Sequencing and Del/Dup
EYA2
EYA3
EYA4
Eye Disorders NGS Panel
Eye Disorders: Comprehensive Sequencing Panel
EYS
EYS Sequence and Deletion/Duplication Analysis
EZH1
EZH2
EZH2 mutation analysis
EZR
 

F 

F10
F11
F11R
F12
F13A1
F13A1 Gene Sequencing
F13B
F2
F2R
F2RL1
F2RL2
F2RL3
F3
F5
F7
F7 Gene Sequencing and Del/Dup
F8
F8 Gene Sequencing and Inversion Detection and Del/Dup
F8, Hemophilia A
F9
F9 Gene Sequencing and Del/Dup
F9, Hemophilia B
FA2H
FAAH
FAAH2
FAAP100
FAAP24
FABP1
FABP12
FABP2
FABP3
FABP4
FABP5
FABP6
FABP7
Fabry Disease
Fabry disease (deletion/duplication analysis on GLA gene)
Fabry Disease Test
Fabry Disease, GLA Sequence and Del/Dup Analysis
Fabry Disease: GLA Gene Sequencing
Facial Dysostosis and Related Disorders Panel
Facial paresis type 3
Faciogenital dysplasia
Facioscapulohumeral dystrophy-like phenotype, FAT1 related
Factor IX
Factor V deficiency
Factor VII deficiency
Factor VII Deficiency (F7)
Factor VIII
Factor X deficiency
Factor XI deficiency
Factor XII deficiency
Factor XIIIA deficiency
Factor XIIIB deficiency
FADD
FADS1
FADS2
FADS3
FADS6
FAF1
FAF2
FAH
FAH Gene Sequencing
FAH Sequence and Deletion/Duplication Analysis
FAHD1
FAHD2A
FAHD2B
Failure of Tooth eruption, Primary (PFE)
FAIM
FAIM2
FAM101A
FAM102A
FAM102B
FAM104A
FAM104B
FAM105A
FAM107A
FAM107B
FAM109A
FAM109B
FAM110A
FAM110B
FAM111A
FAM111B
FAM114A1
FAM114A2
FAM118A
FAM118B
FAM120A
FAM120AOS
FAM120B
FAM120C
FAM122A
FAM123B Sequence and Deletion/Duplication Analysis
FAM124B
FAM126A
FAM126B
FAM127A
FAM127C
FAM129A
FAM129B
FAM131A
FAM131B
FAM133A
FAM133B
FAM134B
FAM134C
FAM135A
FAM135B
FAM136A
FAM13A
FAM13B
FAM13C
FAM149A
FAM149B1
FAM151A
FAM151B
FAM155A
FAM159A
FAM160A1
FAM160A2
FAM160B1
FAM160B2
FAM161A
FAM161A Sequence and Deletion/Duplication Analysis
FAM161B
FAM163A
FAM163B
FAM166A
FAM166B
FAM167A
FAM169B
FAM170A
FAM170B
FAM171A1
FAM171B
FAM173B
FAM174A
FAM175A
FAM175B
FAM177B
FAM178B
FAM179A
FAM179B
FAM180A
FAM180B
FAM181A
FAM183A
FAM184A
FAM184B
FAM185A
FAM186A
FAM186B
FAM187B
FAM188A
FAM188B
FAM189A2
FAM192A
FAM193A
FAM195B
FAM198A
FAM198B
FAM19A1
FAM19A2
FAM19A3
FAM19A4
FAM200A
FAM200B
FAM204A
FAM205A
FAM206A
FAM208A
FAM208B
FAM209A
FAM209B
FAM20A
FAM20B
FAM20C
FAM20C Sequence and Deletion/Duplication Analysis
FAM210A
FAM212A
FAM212B
FAM213A
FAM214A
FAM214B
FAM216B
FAM217A
FAM217B
FAM218A
FAM219A
FAM220A
FAM221A
FAM221B
FAM222A
FAM222B
FAM227A
FAM227B
FAM228A
FAM228B
FAM234A
FAM234B
FAM25A
FAM26D
FAM26F
FAM32A
FAM35A
FAM3B
FAM3C
FAM3D
FAM45A
FAM46A
FAM46B
FAM46C
FAM46D
FAM47A
FAM47B
FAM47C
FAM47E
FAM49A
FAM49B
FAM50A
FAM50B
FAM53B
FAM53C
FAM57A
FAM58A
FAM63A
FAM63B
FAM64A
FAM65A
FAM65B
FAM65C
FAM69A
FAM69B
FAM71A
FAM71B
FAM71C
FAM71D
FAM71E1
FAM71E2
FAM71F1
FAM71F2
FAM73A
FAM73B
FAM76B
FAM78A
FAM78B
FAM81A
FAM81B
FAM83A
FAM83B
FAM83C
FAM83D
FAM83F
FAM83G
FAM83H
FAM84A
FAM84B
FAM86C1
FAM8A1
FAM90A1
FAM91A1
FAM92A1
FAM92B
FAM96A
FAM96B
FAM98A
Familial Adenomatosis Polyposis
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP) Mutation Screen
Familial Adenomatous Polyposis (FAP) Test
Familial Adenomatous Polyposis (FAP), APC, Sequencing and Deletion/Duplication
Familial adenomatous polyposis coli
Familial Adenomatous Polyposis Panel: (APC) Sequencing and Deletion/Duplication, (MUTYH) 2 Mutations
Familial adenomatous polyposis type 2
Familial adenomatous polyposis type 3
Familial Adenomatous Polyposis(APC)/Gardner Syndrome Deletions/Duplications and Sequencing
Familial Adenomatous Polyposis: APC Gene Sequencing
Familial Breast Cancer: BRCA1 and BRCA2 genes
Familial breast/ovarian cancer (deletion/duplication analysis and sequence analysis of BRCA1 and BRCA2 genes)
Familial breast/ovarian cancer (deletion/duplication analysis of BRCA1 and BRCA2 genes)
Familial breast/ovarian cancer (deletion/duplication analysis of BRCA1 gene)
Familial breast/ovarian cancer (deletion/duplication analysis of BRCA2 gene)
Familial Cerebral Cavernous Malformation Test
Familial Cutaneous Malignant Melanoma
Familial exudative vitreoretinopathy (FEVR)
Familial hemiplegic migraine
Familial Hemiplegic Migraine 1 Test
Familial Hemiplegic Migraine 2 Test
Familial Hemiplegic Migraine 3 Test
Familial hemiplegic migraine panel
Familial hemiplegic migraine type 1
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 2 (FHM2, deletion/duplication analysis of ATP1A2 gene)
Familial hemiplegic migraine type 3
Familial Hemophagocytic Lymphohistiocytosis NGS Panel
Familial Hypercholesterolemia (FH, LDLR)
Familial hypercholesterolemia (LDLR-related)
Familial hypercholesterolemia (PCSK9-related)
Familial hypercholesterolemia panel
Familial Hypercholesterolemia Test
Familial Hypercholesterolemia-LDLR Screen
Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel
Familial Infantile Convulsions with Paroxysmal Choreoathetosis Test
Familial infantile myoclonic epilepsy
Familial intrahepatic cholestasis (deletions/duplications on ABCB4 gene)
Familial Intrahepatic Cholestasis Test
Familial Isolated Noncompaction of Left Ventricular Myocardium Test
Familial Mediterranean Fever
Familial mediterranean fever (deletion/duplication analysis of MEFV gene)
Familial Medullary Thyroid Carcinoma (RET)
Familial Mutation Testing: Targeted Sequencing
Familial Papillary Thyroid Cancer Gene Hunt
Familial Paroxysmal Kinesigenic Dyskinesia Test
Familial Partial Lipodystrophy Type 2 Test
Familial Partial Lipodystrophy, Kobberling Type
Familial Partial Lipodystrophy, Type 2
Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia
Family Prep Screen
FAN1
FANCA
FANCA - Gene Sequencing and CNV analysis
FANCB
FANCB - Gene Sequencing and CNV analysis
FANCC
FANCD2
FANCD2OS
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
Fanconi anemia (deletion/duplication analysis of FANCA gene)
Fanconi Anemia (FANCC Sequencing)
Fanconi Anemia Cancer Comprehensive Panel
Fanconi Anemia NGS Panel
Fanconi Anemia NGS panel Comprehensive Test
Fanconi anemia panel
Fanconi Anemia Test
Fanconi anemia type A
Fanconi anemia type B
Fanconi Anemia Type B: FANCB Gene Deletion/Duplication
Fanconi Anemia Type B: FANCB Gene Sequencing
Fanconi anemia type C
Fanconi anemia type D1
Fanconi anemia type D2
Fanconi anemia type E
Fanconi anemia type F
Fanconi anemia type G
Fanconi anemia type I
Fanconi anemia type J
Fanconi anemia type L
Fanconi anemia type M
Fanconi anemia type N
Fanconi anemia type P
Fanconi anemia, complementation group Q
Fanconi Anemia, group A, FANCA, Sequencing and Deletion/Duplication Analysis
Fanconi anemia, XRCC2 related
Fanconi renotubular syndrome type 2
Fanconi-Bickel syndrome
FANK1
FAP
FAR1
FAR2
Farber disease
FARP1
FARP2
FARS2
FARS2 Sequence and Deletion/Duplication Analysis
FARSA
FAS
FAS Gene Sequencing
FASLG
FASN
FASTKD1
FASTKD2
FASTKD2 Sequence and Deletion/Duplication Analysis
FASTKD3
FAT1
FAT2
FAT3
FAT4
Fatal familial imsomnia
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Test
Fatal Infantile Lactic Acidosis Test
FATE1
Fatty Acid Oxidation Deficiency NGS Panel
Fatty acid oxidation disorder panel
Fatty Acid Oxidation Disorders Test
Fatty Acid Oxidation Syndrome Panel
FAU
Favism, susceptibility to
FAXC
FAXDC2
Fazio-Londe disease
FBF1
FBL
FBLIM1
FBLN1
FBLN2
FBLN5
FBN1
FBN1 - Gene Sequencing and CNV analysis
FBN1 Gene Sequencing and Del/Dup
FBN1 Sequence and Deletion/Duplication Analysis
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections Test
FBN2
FBN3
FBP1
FBP1 Sequence and Deletion/Duplication Analysis
FBXL12
FBXL13
FBXL14
FBXL15
FBXL18
FBXL2
FBXL20
FBXL21
FBXL3
FBXL4
FBXL5
FBXL6
FBXL7
FBXL8
FBXO10
FBXO11
FBXO16
FBXO18
FBXO2
FBXO21
FBXO22
FBXO24
FBXO25
FBXO28
FBXO3
FBXO30
FBXO32
FBXO33
FBXO34
FBXO36
FBXO38
FBXO39
FBXO40
FBXO41
FBXO42
FBXO43
FBXO44
FBXO46
FBXO47
FBXO48
FBXO5
FBXO6
FBXO7
FBXO8
FBXO9
FBXW10
FBXW11
FBXW12
FBXW2
FBXW4
FBXW5
FBXW7
FBXW9
FCAMR
FCAR
FCER1A
FCER1G
FCER2
FCF1
FCGR1A
FCGR1B
FCGR2A
FCGR3A
FCGR3B
FCGRT
FCHO1
FCHO2
FCHSD1
FCHSD2
FCN1
FCN2
FCN3
FCRL1
FCRL2
FCRL3
FCRL4
FCRL5
FCRL6
FCRLA
FCRLB
FDFT1
FDPS
FDX2
FDXACB1
FDXR
Febrile seizures, familial, type 4
FECH
FECH Gene Sequencing
Feingold syndrome
Feingold Syndrome 1 Test
Feingold syndrome type 2
FEM1A
FEM1B
FEM1C
Female Fertility Panel (9 Genes Sequenced)
FEN1
FER
FER1L5
FER1L6
FERD3L
FERMT1
FERMT2
FERMT3
FES
Fetal akinesia deformation sequence
Fetal Akinesia Deformation Sequence / LMPS / Related Disorder Panel
FETUB
FEV
FEZ1
FEZF1
FEZF2
FFAR1
FFAR2
FFAR3
FFAR4
FG syndrome (delection/duplication analysis of CASK gene)
FG syndrome type 1
FG syndrome type 2
FG syndrome type 4
FGA
FGB
FGD1
FGD2
FGD3
FGD4
FGD5
FGD6
FGF1
FGF10
FGF12
FGF14
FGF16
FGF17
FGF18
FGF2
FGF20
FGF23
FGF3
FGF5
FGF6
FGF7
FGF8
FGF9
FGFBP1
FGFBP2
FGFR-Related Craniosynostosis NGS Panel
FGFR1
FGFR2
FGFR2 related craniosynostosis
FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
FGFR3
FGFR3-related disorder test
FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
FGFR4
FGFRL1
FGG
FGGY
FGL1
FGL2
FGR
FH
FH Gene Sequence and Deletion/Duplication Analysis
FH Gene Sequencing and Del/Dup
FHAD1
FHDC1
FHIT
FHL1
FHL2
FHL3
FHL5
FHNext - Familial Hypercholesterolemia Panel
FHOD1
FHOD3
FIBCD1
FIBIN
FIBP
Fibrillinopathy NGS panel Comprehensive Test
Fibrochondrogenesis 1 (FBCG1)
Fibrochondrogenesis 2
Fibrochondrogenesis 2 (FBCG2)
Fibrochondrogenesis NGS panel
Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP)
Fibrosis of extraocular muscles, congenital type 1
Fibrosis of extraocular muscles, congenital type 2
Fibrosis of extraocular muscles, congenital type 3a
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
Fibular hypoplasia and complex brachydactyly
FICD
FIG4
FIG4-Related Amyotrophic Lateral Sclerosis Test
FIGLA
FIGN
FIGNL1
Filaminopathy
FILIP1
FILIP1L
FILS syndrome
FIP1L1
FIS1
FISH Analysis
FISH analysis with centromeric probe
FISH analysis with centromeric probe - chromosome 12
FISH analysis with centromeric probe - chromosome 15
FISH analysis with centromeric probe - chromosome 6
FISH analysis with centromeric probe - chromosome 9
FISH analysis with painting probe
FISH analysis with subtelomeric probe
Fish eye disease
FISH for Congenital Aberrations Test
FISH for Prader-Willi/Angelman Syndrome
FISH for Velocardiofacial/DiGeorge/22q11.2 deletion Syndrome and 22q11.2 duplication syndrome
FISH for Williams Syndrome
FISH test on peripheral Blood/Bone marrow, inversion 16 or LSI CBFB
FISH test on peripheral Blood/Bone marrow, t(8;21) or LSI ETO/AML1
FISH: Prenatal Panel 13, 18, 21, X and Y
FISH: X-inactivation (Xist)
FISH: Yp11.3 (SRY detection)
FITM1
FITM2
FIZ1
FKBP10
FKBP10 Sequence and Deletion/Duplication Analysis
FKBP11
FKBP14
FKBP14 Gene Sequencing
FKBP15
FKBP1A
FKBP1B
FKBP5
FKBP6
FKBP7
FKBP8
FKBPL
FKRP
FKRP-Related Muscle Diseases Test
FKTN
FKTN Related Cardiomyopathy/Muscle Diseases (FKTN Sequencing)
FKTN-Related Muscle Diseases Test
FLAD1
FLCN
FLCN - Gene Sequencing and Del/Dup analysis
FLCN Gene Sequencing and Del/Dup
FLCN Gene, Full Gene Analysis
Fleck retina, familial benign
Flecked Retina Disorders Panel
Flecked retina panel
Flecked-retina Disorders: Sequencing Panel
FLG
FLI1
FLII
FLJ44635
FLJ45513
FLNA
FLNA-Related Disorders Test
FLNA-related Disorders: FLNA Gene Sequencing
FLNB
FLNB-Related Disorders Test
FLNC
Floating-Harbor syndrome
FLOT1
FLOT2
FLRT1
FLRT2
FLRT3
FLT1
FLT3
FLT3LG
FLT4
FLVCR1
FLVCR1 Sequence and Deletion/Duplication Analysis
FLVCR2
FMN1
FMN2
FMNL2
FMNL3
FMO1
FMO2
FMO3
FMO4
FMO5
FMO6P
FMOD
FMR1
FMR1 Repeat Expansion
FMR1-Related Disorders
FMR1-Related Disorders Test
FMR1-Related Primary Ovarian Insufficiency (POI)
FN1
FN3K
FNBP1L
FNBP4
FNDC1
FNDC3A
FNDC3B
FNDC4
FNDC5
FNDC7
FNDC8
FNDC9
FNIP1
FNIP2
FNTA
FNTB
FOCAD
Focal dermal hypoplasia
Focal dermal hypoplasia (FDH)
Focal Dermal Hypoplasia: PORCN Gene Sequencing
Focal Glomerulonephrosis panel
Focal segmental glomerulosclerosis type 1
Focal segmental glomerulosclerosis type 2
Focal segmental glomerulosclerosis type 3
Focal segmental glomerulosclerosis type 4, susceptibility to
Focal segmental glomerulosclerosis type 5
Focal segmental glomerulosclerosis type 6
Focal segmental glomerulosclerosis type 7
Focal segmental glomerulosclerosis type 8
Focal segmental glomerulosclerosis type 9
Focus Cancer Panel
Folate malabsorption, hereditary
FOLH1
FOLH1B
Follicle-Stimulating Hormone (FSHR Sequencing)
Follicle-stimulating hormone deficiency, isolated
FOLR1
FOLR2
FOLR3
FOPNL
Formiminotransferase Deficiency/FIGLU-uria: FTCD Gene Sequencing
FOS
FOSL2
Foveal Hypoplasia and Presenile Cataract Syndrome Test
Foveal hypoplasia type 1
FOXA1
FOXA2
FOXA3
FOXB1
FOXC1
FOXC1 Gene Sequencing
FOXC1 Sequence and Deletion/Duplication Analysis
FOXC2
FOXD3
FOXD4
FOXD4L1
FOXD4L3
FOXE1
FOXE3
FOXF1
FOXF2
FOXG1
FOXG1 Gene Sequencing
FOXH1
FOXI1
FOXJ1
FOXJ2
FOXJ3
FOXL1
FOXL2
FOXL2 - Gene Sequencing and CNV analysis
FOXL2NB
FOXM1
FOXN1
FOXN2
FOXN3
FOXN4
FOXO3
FOXO4
FOXP1
FOXP2
FOXP3
FOXP4
FOXR1
FOXR2
FOXRED1
FOXRED1 Sequence and Deletion/Duplication Analysis
FOXRED2
FOXS1
FPGS
FPGT
FPGT-TNNI3K
FPR1
FPR2
FPR3
FRA10AC1
Fragile X
Fragile X (FMR1 CGG Repeat Analysis and Sequencing)
Fragile X CGG and AGG Repeat Analysis and Sequencing
Fragile X DNA Analysis (FMR1 repeat analysis and FMR1 methylation analysis)
Fragile X Syndrome
Fragile X Syndrome or Premature Ovarian Failure (POF1) via FMR1 CGG Repeat Expansion
Fragile X Syndrome Test
Fragile X tremor/ataxia syndrome
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
Fragile X: CGG Repeat Analysis
Fragile X: FMR1 Gene Sequencing
Frank-ter Haar syndrome
FRAS1
Fraser syndrome
FRAXE Syndrome: AFF2 Gene Sequencing
FRAXE Syndrome: MALE CCG Repeats and Methylation
Free Sialic Acid Storage Disorders: SLC17A5 Gene Sequencing
FREM1
FREM2
FREM3
Frequent mutations in the MUTYH gene
FRG1
FRG2
FRG2B
Friedreich Ataxia
Friedreich Ataxia Genetic Testing (Trinucleotide repeat expansion)
Friedreich Ataxia Test
FRK
FRMD1
FRMD3
FRMD4A
FRMD4B
FRMD5
FRMD6
FRMD7
FRMD7-Related Infantile Nystagmus Test
FRMPD1
FRMPD2
FRMPD3
FRMPD4
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia NGS panel
Frontonasal dysplasia 1 (FND1)
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS)
Frontonasal dysplasia 2 (FND2)
Frontonasal dysplasia 3 (FND3)
Frontonasal dysplasia type 1
Frontonasal dysplasia type 2
Frontonasal dysplasia, SIX2 related
Frontotemporal dementia (deletion/duplication analysis of MAPT and GRN genes)
Frontotemporal Dementia (FTD) Panel
Frontotemporal Dementia (MAPT and GRN)
Frontotemporal dementia panel
Frontotemporal Lobar Degeneration (GRN gene)
Frontotemporal Lobar Degeneration (MAPT gene)
FRRS1
FRS2
FRS3
Fructose intolerance
Fructose-1,6-bisphosphatase deficiency
Fructosuria essential
FRY
FRYL
FRZB
FSBP
FSCB
FSCN1
FSCN2
FSCN2 Sequence and Deletion/Duplication Analysis
FSCN3
FSD1
FSD2
FSH releasing protein deficiency
FSHB
FSHR
FSIP2
FST
FSTL1
FSTL4
FSTL5
FTCD
FTH1
FTHL17
FTL
FTMT
FTO
FTSJ1
FTSJ1-related Intellectual Disability: FTSJ1 Gene Sequencing
FTSJ2
FTSJ3
FUBP1
FUCA1
FUCA1 Gene Sequencing
FUCA2
Fucosidosis
Fucosidosis Test
Fucosidosis: FUCA1 Gene Sequencing
FUK
Fukuyama congenital muscular dystrophy
Fukuyama Congenital Muscular Dystrophy: FKTN Gene Sequencing
Fumarase deficiency
Fumarate hydratase deficiency
Fumarate Hydratase Deficiency Test (FH)