Multi-Gene Panels

1 2 3 4 5 8 9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

1 

11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
11;14 translocation; t(11;14)(q13;q32) BCL1(CCND1)/IGH
11;18 translocation; t(11;18)(q21;q21) BIRC3/MALT1
12;21 translocation, t(12;21)(p12;q2) TEL(ETV6)/AML1(RUNX1)
1p/1q; 1p deletion / 1q amplification
1p32 deletion; del(1p32) SIL-TAL1
 

2 

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
 

3 

3 Ashkenazi BRCA1 and BRCA2 mutations
3-M Syndrome / Primordial Dwarfism Panel
3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Deletion/Duplication
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Sequencing
3-Methylcrotonyl-CoA Carboxylase Deficiency Deletion/Duplication Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency NGS Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 and MCCC2 genes sequence analysis
3;14 translocation, t(3;14)(q27;q32) IGH/BCL6 - Non-Hodgkin Lymphoma
3M Syndrome, Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes
3MCC Panel Deletion/Duplication Analysis
3MCC Panel Sequence and Del/Dup Analysis
 

4 

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
46XY sex reversal (Geschlechtsumkehr XY)
4q12 deletion; del(4q12) FIP1L1/PDGFRa
 

5 

5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations
5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes)
5;14 translocation, t(5;14)(q35;q32) TLX3/BCL11B
 

8 

8;14 translocation; t(8;14)(q24;q32) IGH/MYC
8;21 translocation; t(8;21)(q21.3;q22) RUNX1/RUNX1T1
 

9 

9;14 translocation; t(9;14)(p13;q32) PAX5/IGH
9;22 translocation; t(9;22)(q34;q11) ABL1/BCR
 

A 

ABCA3 - Surfactant Metabolism Dysfunction, Pulmonary
ABCA4-Related Stargardt Disease 1 Test
ABCC8-Related Hyperinsulinism Test
Abdominal Pain Spotlight Panel
Abnormal Genitalia/ Disorders of Sex Development Panel
Abnormal Mineralization Disorders NGS panel
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
Abnormal mineralization panel
Abnormal Mineralization, Panel Massive Sequencing (NGS) 28 Genes
Abnormal/Ambiguous Genitalia Sequencing Test
Absence Seizures Spotlight Panel
aCGH Deletion/Duplication Analysis
Achondrogenesis NGS panel
Achondrogenesis/Hypochondrogenesis, Panel Massive Sequencing (NGS) 5 Genes
Achondroplasia
Achondroplasia Test
Achondroplasia/Hypochondroplasia (Achondroplasie / Hypochondroplasie)
Achromatopsia (ACHM) Deletion/Duplication Panel
Achromatopsia (ACHM) Sequencing Panel
Achromatopsia 2 Test
Achromatopsia NGS Panel
Achromatopsia Panel
Achromatopsia, CNGA3/CNGB3, Sequencing
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing and Deletion/Duplication Panel
Achromatopsia, Cone, and Cone-Rod Dystrophy: Deletion/Duplication Panel
Achromatopsia, Cone, and Cone-Rod Dystrophy: Sequencing Panel
Achromatopsia, NGS panel
Achromatopsia, Panel Massive Sequencing (NGS) 5 Genes
Acromesomelic dysplasia, Hunter-Thompson type (AMDH)
ACTA1 Gene Sequencing and NEB Mutation Analysis
Acute Intermittent Porphyria Test
Acute Myeloid Leukemia (Susceptibility to), Panel Massive Sequencing (NGS) 21 Genes
Acute Porphyria, Multi-Gene Panel
Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Test
Adams-Oliver Syndrome
Adams-Oliver syndrome NGS panel
Adams-Oliver syndrome NGS panel Comprehensive Test
Adams-Oliver Syndrome Panel
Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes
Adenomatous Polyposis (APC and MUTYH Gene Sequence and Deletion/ Duplication Analyses)
Adenomatous polyposis (Familiäre adenomatöse Polypose)
Adrenal hyperplasia, congenital (Adrenogenitales Syndrom)
adRP mutation detection in 15 genes: CA4, FSCN2, IMPDH1, NRL, PPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX , TOPORS and PNR
adRP Tier 1
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel
Adult onset dementia and psychosis
Afibrinogenemia (Afibrinogenemia/ Dysfibrinogenemia)
Afibrinogenemia panel
Agammaglobulinemia (Agammaglobulinämie)
Agammaglobulinemia panel
Agammaglobulinemia Panel, Sequencing (9 Genes) and Deletion/Duplication (6 Genes)
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes
Age-Related Macular Degeneration Test (AMD) - (ARMS2, C2, CFB, CFH genes - selected polymorphisms)
Agnathia-Otocephaly Complex Sanger Sequencing Panel
AGS Panel
AGS Tier 1
AGS Tier 2
aHUS Genetic Evaluation
aHUS Genetic Panel
aHUS Genetic Susceptibility Deletion/Duplication Panel
aHUS Genetic Susceptiblity Panel
aHUS/TMA/C3 Glomerulopathy Gene Set
Aicardi-Gouti
Aicardi-Goutieres Full Gene Sequencing Analysis Panel (6 genes)
Aicardi-Goutieres MLPA Duplication/Deletion Analysis
Aicardi-Goutieres Sequencing Panel (6 genes) with MLPA Duplication/Deletion Analysis
Aicardi-Goutières Syndrome
Aicardi-Goutieres Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 6 genes)
Aicardi-Goutieres syndrome (NGS panel for TREX1, RNASEH2B, RNASEH2C, RNASEH2A and SAMHD1 gene)
Aicardi-Goutieres Syndrome Deletion/Duplication Panel
Aicardi-Goutieres Syndrome NGS Panel
Aicardi-Goutieres Syndrome Panel
Aicardi-Goutieres Syndrome Sequencing Panel
Aicardi-Goutieres Syndrome Spotlight Panel
Aicardi-Goutieres Syndrome Test
Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes
Aicardi-Goutieres Syndromes NGS Panel
AIP-Related Familial Isolated Pituitary Adenomas Test
Alagille syndrome (Alagille-Syndrom)
Alagille Syndrome Deletion/Duplication Panel
Alagille syndrome NGS panel
Alagille Syndrome Sequencing Panel
Alagille Syndrome Types 1 and 2, Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes
Albinism
Albinism (Albinismus)
Albinism (NGS panel for 12 genes)
Albinism Deletion/Duplication panel
Albinism NGS Panel
Albinism panel
Albinism Panel by Massively Parallel Sequencing
Albinism Sequencing Panel
Albinism, Panel Massive Sequencing (NGS) 11 Genes
Albinism: Deletion/Duplication Panel
Albinism: Sequencing and Deletion/Duplication Panel
Albinism: Sequencing Panel
ALL
Alpha Globin (HBA1 and HBA2) Deletion/Duplication
Alpha Globin (HBA1 and HBA2) Sequencing
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
Alpha Thalassemia
Alpha Thalassemia (HBA1 and HBA2) 7 Deletions
Alpha Thalassemia analysis for a known point mutation
Alpha Thalassemia deletion/duplication analysis
Alpha Thalassemia HBA1-HBA2
Alpha Thalassemia sequence analysis
Alpha Thalassemia, Deletions 3.7/4.2 PCR
Alpha Thalassemia, Deletions 3.7/4.2/20.5/BE/FIL/MED PCR
Alpha Thalassemia, Deletions-Duplications (MLPA) HBA1 and HBA2 Genes
Alpha thalassemia: Full gene panel sequencing (Rapid testing)
Alpha-Dystroglycanopathy
Alpha-Globin Gene Analysis-(Alpha-Thalassemia)
Alpha-thalassaemia gene mapping
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes)
Alpha-Thalassemia (HBA1/HBA2)
Alpha-thalassemia Deletions
Alpha-Thalassemia Test
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis
Alpha1-Antitrypsin Deficiency
Alpha1-Antitrypsin Deficiency Test
Alport Syndrome
Alport Syndrome (AS) Deletion/Duplication Panel
Alport Syndrome (AS) Sequencing Panel
Alport Syndrome (COL4A3, COL4A4 and COL4A5 exons and splice-site junctions sequencing)
Alport syndrome (NGS panel for COL4A3, COL4A4 and COL4A5 genes)
Alport Syndrome Gene Set
Alport syndrome NGS panel
Alport syndrome NGS panel Comprehensive Test
Alport Syndrome Pane (COL4A3, COL4A4, COL4A5)
Alport Syndrome Panel
Alport Syndrome, Panel Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes
Alzheimer and dementia: Sequencing Panel
Alzheimer dementia and dementia panel
Alzheimer disease (Alzheimer Erkrankung)
Alzheimer disease (NGS panel for 8 genes)
Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes)
Alzheimer Disease, Screening Frequent Mutations (APOE,PSEN1, PSEN2,APP, A2M, MAPT) Genes
Alzheimer Disease, Sequencing (MAPT,CLU,PICALM,CR1) Genes
Alzheimer Disease, Sequencing Selected Exons PSEN1, PSEN2 Genes
Alzheimer Disease, Familial, Deletion/Duplication Panel
Alzheimer Disease, Familial, Sequencing Panel
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes
Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel and Copy Number Analysis; 49 genes)
Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 49 genes)
Alzheimer's Disease
Alzheimer's Disease Panel
Alzheimer: MAPT, CLU, PICALM, CR1 genes screening
Amelogenesis imperfecta (Amelogenesis imperfecta)
Amelogenesis Imperfecta Deletion/Duplication Panel
Amelogenesis Imperfecta NGS Panel
Amelogenesis Imperfecta Sanger Sequencing Panel
Amelogenesis Imperfecta, Panel Massive Sequencing (NGS) 9 Genes
AML Mutation Panel
AML Mutation Panel - Reflex
AML post-FLT3 Comprehensive Mutation Panel
Amyloid-related Disorders (NextGen Sequencing Panel and Copy Number Analysis; 18 genes)
Amyloidosis (Amyloidose)
Amyloidosis (Amyloidpolyneuropathie)
Amyotrophic lateral sclerosis (Amyotrophe Lateralsklerose)
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies
Amyotrophic Lateral Sclerosis (ALS) Panel
Amyotrophic Lateral Sclerosis (ALS) Panel, Sequencing and Deletion/Duplication, 11 Genes
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 27 Genes)
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 27 Genes)
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes
Amyotrophic Lateral Sclerosis , Sequencing (SOD1,ANG,TARDBP,FUS) Genes
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Deletion/Duplication Panel
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel
Amyotrophic Lateral Sclerosis Multi-Gene Panel
Amyotrophic Lateral Sclerosis NGS Panel
Amyotrophic Lateral Sclerosis Panel
Amyotrophic Lateral Sclerosis, Autosomal Dominant and Autosomal Recessive
Amyotrophic lateral sclerosis- 10 genes (NGS panel for ALS2, ANG, FIG4, FUS, SETX, SOD1, TARDBP and VAPB gene)
Analysis Cardiac Arrhythmia Genes (NGS panel 48 Genes)
Analysis Dyslipidemia Genes (NGS panel 29 Genes)
Analysis KCNJ11 gene (Hyperinsulinism, Neonatal Diabetes Mellitus)
Analysis Lymphedema Genes (NGS panel 36 genes)
Analysis MSH2 gene (Lynch Syndrome)
Analysis of Colorectal Cancer; CRC
Analysis of Juvenile Myelomonocytic Leukemia; JMML
Analysis of Lung Cancer
Androgen receptor mutation - Ex 1-3
Anemia Panel
ANG-Related Amyotrophic Lateral Sclerosis Test
Angelman syndrome (Angelman Syndrom)
Angelman Syndrome and Differential Diagnoses
Angelman Syndrome Panel
Angelman Syndrome Test
Angelman Syndrome Tier 2 Panel
Angioedema (Angioödem)
Aniridia (Aniridie)
Aniridia Test (microdeletions of the 11p13 region - MLPA analysis)
Anophthalmia / Microphthalmia Deletion/Duplication Panel
Anophthalmia / Microphthalmia Sequencing Panel
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
Anterior Segment Dysgenesis
Anterior segment dysgenesis (Anterior Segment Dysgenesis)
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome
Antibody Deficiencies Panel
Antidepressants and antipsychotics pharmacogenetics
Aorta Panel
Aortic aneurysm (Aortenaneurysma)
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) Comprehensive Test
Aortic Aneurysym and Dissection Test (the TGFBR1 and TGFBR2 genes - selected fragments/the most common mutations)
Aortic Valve Disease (NOTCH1) Test
Aortopathies
Aortopathies, Familial
Aortopathy Deletion/Duplication, 21 Genes
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
Aortopathy Sequencing, 21 Genes
Apert Syndrome
Apolipoprotein E genotyping
AR - Androgen Insensitivity Syndrome, complete and partial
Arrhythmia (21 Gene) Panel
Arrhythmia Gene Set
Arrhythmia NGS Panel
Arrhythmia Panel
Arrhythmia, hereditary panel
Arrhythmias: Deletion/Duplication Panel
Arrhythmias: Sequencing Panel
Arrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Gene Set
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
Arrhythmogenic right ventricular cardiomyopathy panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel
Arrhythmogenic Right Ventricular CardiomyopathyTest
Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for DSC2, DSG2, DSP, JUP, PKP2, RYR2 and TMEM43 genes)
Arrhythmogenic Right Ventricular Dysplasia (NextGen Sequencing Panel and Copy Number Analysis; 10 genes)
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, NGS panel for DSG2, DSP and PKP2 genes)
Arrhythmogenic right ventricular dysplasia - recessive (ARVD, NGS panel for DSP and JUP genes)
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Multi-Gene Panels
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, NGS Panel (50 genes)
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel
arRP Del/Dup Panel
arRP mutation detection in 28 genes: CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, NR2E3, RDH12, RGR, RLBP1, SAG, TULP1, CRB1, RPE65, USH2A, CLRN1, LRAT, PROM1, RBP3, EYS, ABCA4, AIPL1, CNGA3, CNGB3, GRK1, IMPG2, RHO, and RP1
arRP Sequencing Panel
Arterial calcification, generalized, of infancy NGS panel
Arthrogryposes Panel
Arthrogryposis
Arthrogryposis (Arthrogryposis)
Arthrogryposis (DA1, DA1B, DA2A, DA2B, DA7)
Arthrogryposis panel
Arthrogryposis-Renal Dysfunction-Cholestasis NGS Panel
ARVC Del/Dup Panel
ARVC Sequencing Panel
ARVDNext - Arrhythmogenic Right Ventricular Dysplasia Panel
Ashkenazi Jewish (BRCA1 and BRCA2) 3 Mutations
Ashkenazi Jewish Carrier Multi-Gene Panel
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel
Ashkenazi Jewish Carrier Screening
Ashkenazi Jewish Carrier Screening Panel: DNA Only
Ashkenazi Jewish Diseases, 16 Genes
Ashkenazi Jewish genetic disease panel
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
Ashkenazi Jewish Screening Panel
Ashkenazi Jewish: BRCA Targeted Mutation Panel
Askenazi Jewish Carrier Multi-Gene Panel
Asphyxiating thoracic dystrophy (sequence analysis of DYNC2H1 and IFT80 genes)
Asphyxiating Thoracic Dystrophy, Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes
Asthma Susceptibility to, Panel Massive Sequencing (NGS) 11 Genes
Asthma, susceptibility to (Anfälligkeit für bronchiales Asthma)
Ataxia
Ataxia and Differential Diagnoses Panel
Ataxia Exome Panel
Ataxia Panel
Ataxia Related Disorders, Panel Massive Sequencing (NGS) 36 Genes
Ataxia with Oculomotor Apraxia Deletion/Duplication Panel
Ataxia with Oculomotor Apraxia Sequencing Panel
Ataxia with Oculomotor Apraxia Type 1/2 NGS Panel
Ataxia with Oculomotor Apraxia, Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes
Ataxia, autosomal dominant and X-linked Panel
Ataxia, autosomal recessive and X-linked Panel
Ataxia, Autosomal Recessive – Basic Diagnostics
Ataxia, with oculomotor apraxia (Ataxie mit okulomotorischer Apraxie)
Ataxia, with oculomotor apraxia (Ataxie-okulomotorische Apraxie)
Ataxia-Telangiectasia Test
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 117 Genes + mtDNA)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 117 Genes + mtDNA)
ATP1A3-Related Alternating Hemiplegia of Childhood Test
ATP6V0A2 Sequence analysis
ATP8B1-Related Intrahepatic Cholestasis Test
Atransferrinemia Test (TF gene)
Atrial Fibrillation and Short QT Syndrome Panel
Atrial Fibrillation NGS Panel
Atrial Fibrillation Panel
Atrioventricular (AV) Block Panel
Atypical Ehlers-Danlos Syndrome Spotlight Panel
Atypical Hemolytic Uremic syndrome
Atypical hemolytic uremic syndrome (NGS panel for 14 genes)
Atypical hemolytic uremic syndrome panel
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Atypical Hemolytic Uremic Syndrome, Panel Massive Sequencing (NGS) 7 Genes
Atypical Hemolytic-Uremic Syndrome
Atypical Parkinson Syndrome Panel
Atypical Rett Panel (MECP2, ARX, CDKL5 sequence and deletion/duplication analysis)
Autism (Autismus)
Autism NGS Panel
Autism Panel: Tier 2
Autism Spectrum Disorder Panel
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 101 Genes
Autism Spectrum Disorders Panel
Autism Spectrum Disorders Panel Test
Autism Spectrum Disorders, Panel Massive Sequencing (NGS) 28 Genes
Autism Spectrum Disorders: Deletion/Duplication Panel
Autism Spectrum Disorders: Gene Panel
AutismFirst (Autism Spectrum Disorders)
AutismNext (Autism Spectrum Disorders)
Auto-inflammatory disorders - recurrent inflammation (NGS panel of 3 genes)
Auto-inflammatory disorders � all subtypes (NGS panel of 18 genes)
Auto-inflammatory disorders � other auto-inflammatory disorders (NGS panel of 3 genes)
Auto-inflammatory disorders � sterile inflammation (NGS panel of 9 genes)
Auto-inflammatory disorders � systemic inflammation with urticaria rash (NGS panel of 3 genes)
Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome Panel
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel
Autoimmune lymphoproliferative syndrome panel
Autoimmune Polyendocrinopathy Syndrome Type 1 Test
Autoinflammatory Diseases Panel
Autoinflammatory Syndrome Panel
Autosomal Dominant and Recessive Cutis Laxa, Panel Massive Sequencing (NGS) 13 Genes
Autosomal Dominant and Recessive Polycystic Kidney Disease Deletion/Duplication Panel
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel
Autosomal Dominant Familial Periodic Fever Test
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 27 Genes
Autosomal Dominant Hypercholesterolemia Test (the APOB gene-analysis of the R3500Q, R3531C, H3543Y mutations; the LDLR gene-analysis of the G571E mutation)
Autosomal Dominant Limb-Girdle Muscular Dystrophy (LGMD) Deletion/Duplication Panel
Autosomal Dominant Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 4 Genes
Autosomal Dominant Osteogenesis Imperfecta (OI) Multi-Gene Panel
Autosomal Dominant Partial Epilepsy with Auditory Features Test
Autosomal Dominant Polycystic Kidney Disease Deletion/Duplication Panel
Autosomal Dominant Polycystic Kidney Disease Sequencing Panel
Autosomal Dominant Polycystic Kidney Disease Types 1 and 2 , Sequencing PKD1 and PKD2 Genes
Autosomal Dominant Polycystic Kidney Disease, Deletions-Duplications (MLPA) PKD1,PKD2 Genes
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa Deletion/Duplication Panel
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes
Autosomal Recessive Ataxias, Deletions-Duplications (MLPA) APTX, SETX and FXN Genes
Autosomal Recessive Congenital Ichthyosis (ARCI) Deletion/Duplication Panel
Autosomal Recessive Congenital Ichthyosis (ARCI) Sanger Sequencing Panel
Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes
Autosomal Recessive Limb-Girdle Muscular Dystrophy (LGMD) Deletion/Duplication Panel
Autosomal Recessive Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 18 Genes
Autosomal Recessive Non-Specific ID Sequencing Panel
Autosomal Recessive non-syndromic hydrocephalus del/dup panel
Autosomal Recessive non-syndromic hydrocephalus sequencing panel
Autosomal Recessive Nonsyndromic Mental Retardation, Panel Massive Sequencing (NGS) 20 Genes
Autosomal Recessive Osteogenesis Imperfecta (OI) Panel
Autosomal Recessive Primary Microcephaly Tier 2 Del/Dup Panel
Autosomal Recessive Primary Microcephaly Tier 2 Sequencing Panel
Autosomal Recessive Primary Microcephaly, Panel Massive Sequencing (NGS) 8 Genes
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Deletion/Duplication Panel
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel
Autosomal Recessive Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa Deletion/Duplication Panel
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel
Autosomal Recessive Spondylocostal Dysostosis, Panel Massive Sequencing (NGS) 4 Genes
Autosomic Autoimmune Lymphoproliferative Syndrome, Panel Massive Sequencing (NGS) 10 Genes
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes)
Axenfeld-Rieger Syndrome Deletion/Duplication Panel
Axenfeld-Rieger Syndrome Sequencing Panel
AXONAL Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 genes + mtDNA)
Axonal CMT Panel
 

B 

B-negative SCID Panel
B-positive SCID Panel
Baby Genes Newborn Screening Panel
Baraitser Winter syndrome deletion/duplication panel
Baraitser Winter syndrome sequencing panel
Baraitser-Winter syndrome, NGS panel
Bardet Biedl panel
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alstrom Syndrome, Albright Hereditary Osteodystrophy
Bardet-Biedl mutation detection in 14 genes: BBS1, BBS2,BBS3,BBS4,BBS5,BBS6, BBS7,BBS8,BBS9, BBS10,BBS12,PHF6,ALMS1, GNAS1
Bardet-Biedl syndrome
Bardet-Biedl syndrome (Bardet-Biedl Syndrom)
Bardet-Biedl syndrome (NGS panel for 22 genes)
Bardet-Biedl syndrome 12 (sequence analysis of BBS12 gene)
Bardet-Biedl Syndrome Deletion/Duplication Panel
Bardet-Biedl Syndrome NGS Panel
Bardet-Biedl Syndrome Panel
Bardet-Biedl Syndrome Panel by Massively Parallel Sequencing
Bardet-Biedl Syndrome Sequencing Panel
Bardet-Biedl Syndrome, Panel Massive Sequencing (NGS) 17 Genes
Bardet-Biedl Syndrome: Deletion/Duplication Panel
Bardet-Biedl Syndrome: Sequencing and Deletion/Duplication Panel
Bardet-Biedl Syndrome: Sequencing Panel
Bartter Syndrome
Bartter Syndrome Panel
Bartter Syndrome, Panel Massive Sequencing (NGS) 23 Genes
Bartter/Gitelman Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 8 genes)
Basal Cell Nevus Syndrome NGS panel
Basal Cell Nevus Syndrome, Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes
Basal Ganglia Calcification Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 20 genes)
Basal Ganglia Calcification NGS panel
Basal Ganglia Calcification Panel
Basic Fibrosis Panel (12 Genes)
BCS1L Sequence analysis
Beckwith Wiedemann 11p15 Hypomethylation Analysis
Beckwith Wiedemann Syndrome
Beckwith Wiedemann syndrome test
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (Beckwith-Wiedemann-Syndrom)
Beckwith-Wiedemann Syndrome (Deletion/Duplication Test)
Beckwith-Wiedemann Syndrome (Methylation Test)
Beckwith-Wiedemann Syndrome (UPD Test)
Beckwith-Wiedemann Syndrome Test
Beckwith-Wiedemann Syndrome, Panel Massive Sequencing (NGS) 4 Genes
Beckwith-Wiedemann Syndrome: H19 and LIT1 Methylation Panel
Beckwith-Wiedemann Syndrome: LIT1 Methylation
Benign Epilepsies Spotlight Panel
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS)
Benign Familial Neonatal Infantile Seizures Test
Benign Familial Neonatal Infantile Seizures, Panel Massive Sequencing (NGS) 4 Genes
Berardinelli-Seip Congenital Lipodystrophy
Bernard-Soulier Syndrome Deletion/Duplication Panel
Bernard-Soulier Syndrome NGS Panel
Bernard-Soulier Syndrome Sanger Sequencing Panel
Bernard-Soulier Syndrome Sequence Analysis
Bernard-Soulier Syndrome, Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes
Best Vitelliform Macular Dystrophy
Beta Globin (HBB) Deletion/Duplication
Bethlem myopathy (sequence analysis of COL6A1, COL6A2 and COL6A3 genes)
Bethlem myopathy and Ullrich congenital muscular dystrophy NGS panel
Bethlem myopathy panel
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel
Bile Acid Defects Panel
Blackfan-Diamond Anemia
Bladder cancer
Bleeding Disorder/Coagulopathy Panel
Bleeding Disorders Deletion/Duplication Panel
Bleeding Disorders Sequencing Panel
Bleeding Disorders, Panel Massive Sequencing (NGS) 23 Genes
Blue-Mono-Cone-Monochromatic (BCM) Panel
BMPR1A, SMAD4 Gene Sequencing and Del/Dup
Bone marrow failure panel
Bone Marrow Failure Related Disorders, Panel Massive Sequencing (NGS) 61 Genes
Bone Marrow Failure Sequencing, 35 Genes
Bone Marrow Failure Syndrome Panel
Bone Marrow Failure Syndromes (Metabolism) Panel
Bone Marrow Failure Syndromes Deletion/Duplication Panel
Bone Marrow Failure Syndromes Panel
Bone Marrow Failure Syndromes with Leukemia Panel
Brachydactyly (Brachydaktylie)
Brachydactyly / Syndactyly Panel
Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes
Brachydactyly Type B1/B2 Test (analysis of two genes: ROR2 - exons: 8, 9; NOG - entire)
Brachydactyly, Panel Massive Sequencing (NGS) 18 Genes
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
Brain Development Disorders Panel
Brain iron accumulation syndromes panel
Brain Malformation Panel
Brain Malformation Seizures Spotlight Panel
Brain Malformations / Neuronal Migration Disorders
Brain Malformations: Deletion/Duplication Panel
Brain Malformations: Sequencing Panel
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel
Brain, CNS, and PNS Cancer: Sequencing Panel
BrainTumorNext
Branchio-Oto-Renal (BOR) Syndrome Panel
Branchiootorenal Spectrum Disorder Deletion/Duplication Panel
Branchiootorenal Spectrum Disorder Panel
Branchiootorenal Spectrum Disorders NGS Panel
Branchiootorenal Spectrum Disorders Test
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes
Branchiootorenal Syndrome
Branchiootorenal syndrome (Branchiootorenales Syndrom)
Branchiootorenal Syndrome Deletion/Duplication Panel
Branchiootorenal Syndrome Panel
Branchiootorenal Syndrome Sequencing Panel
BRCA 1/2 Deletion/Duplication Analysis
BRCA 1/2 Gene Sequence and Deletion/Duplication Analysis
BRCA Ashkenazi Jewish 3-site Mutation panel
BRCA Ashkenazi Jewish Panel
BRCA Hereditary Breast and Ovarian Cancer
BRCA Hereditary Breast and Ovarian Cancer Test
BRCA screening
BRCA1 and BRCA2 Del/Dup
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
BRCA1 and BRCA2 Sequencing
BRCA1 Gene Analysis
BRCA1 Hereditary Breast and Ovarian Cancer Test
BRCA1, BRCA2 panel
BRCA1/ BRCA2 Full Gene (Includes Del/Dup)
BRCA1/2
BRCA1/2 Ashkenazi Founder Mutation Panel
BRCA1/2 Comprehensive Analysis
BRCA1/2 Deletion and Duplication 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
BRCA1/BRCA2 Sequencing
BRCA2 Gene Analysis
BRCA2 Hereditary Breast and Ovarian Cancer Test
BRCA2-Related Fanconi Anemia Test
BRCAPlus
BRCAPlus-Expanded
BRCATrue
BRCATrue Ashkenazi (3 site)
Breast and Ovarian Cancer
Breast and Ovarian Cancer - extended Diagnostic Panel
Breast and Ovarian Cancer Panel
Breast and Ovarian Cancer Test
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) BRCA1 and 2 Genes
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Deletion/Duplication
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication
Breast and Ovarian Hereditary Cancer, Deletions-Duplications (MLPA) BRCA1 and 2 Genes
Breast and Ovarian Hereditary Cancer, Panel Massive Sequencing (NGS) BRCA1,BRCA2,TP53,PALB2 Genes
Breast Cancer
Breast cancer (mutations 187delAG(BRCA1), 5385insC(BRCA1), 6174delT(BRCA2))
Breast cancer - 10 genes (NGS panel for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D and TP53 genes)
Breast cancer - 18 genes (NGS panel for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes)
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 Panel
Breast Cancer Test (genetic predisposition) - panel I (multi-gene test)
Breast Cancer Test (genetic predisposition) - panel II (supplementary multi-gene test)
Breast Cancer – Basic Diagnostics
Breast Cancer, BRCA1, BRCA2, PALB2, CHEK2
Breast ovarian cancer panel
Breast ovarian cancer panel PLUS
Breast, Colon and Ovarian Hereditary Cancer, Panel Massive Sequencing (NGS) 23 Genes
Breast/ovarian cancer (Brust- Eierstockkrebs)
Breast/Ovarian Cancer Panel
BreastNext
BreastTrue
Brittle Cornea Syndrome Sequencing Panel
Brittle Cornea Syndrome, Panel Massive Sequencing (ZNF469, PRDM5) Genes
Bronchiectasis NGS Panel
Bronchiectasis Panel
Bronchiectasis Panel (17 Genes)
Bronchiectasis: Deletion/Duplication Panel
Bronchiectasis: Sequencing Panel
Brown-Vialetto-Van Laere syndrome (Brown-Vialetto-Van Laere Syndrom)
BrS Sequencing Panel
Bruck syndrome (Bruck Syndrom)
Bruck Syndrome, Panel Massive Sequencing (NGS) (FKBP10, PLOD2) Genes
Brugada Panel
Brugada Syndrome
Brugada syndrome (Brugada Syndrom)
Brugada Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 16 genes)
Brugada syndrome (NGS panel for 7 genes)
Brugada Syndrome 5 Test
Brugada Syndrome Deletion/Duplication Panel
Brugada Syndrome Gene Set
Brugada Syndrome Multi-Gene Panel, Blood
Brugada Syndrome Multi-Gene Panels
Brugada Syndrome NGS Panel
Brugada Syndrome Panel
Brugada Syndrome Sequencing Panel
Brugada Syndrome Types 2, 5, 7
Brugada Syndrome, Panel Massive Sequencing (NGS) 8 Genes
Brugada Syndrome: Deletion/Duplication Panel
Brugada Syndrome: Sequencing Panel
Budd-Chiari syndrome (Budd-Chiari Syndrom)
Butyrylcholinesterase Deficiency Test
 

C 

C1q Deficiency Panel
C3 Sequence analysis
CADASIL (sequence analysis of NOTCH3 gene)
CADASIL /CARASIL (CADASIL /CARASIL)
CADASIL Test
Calcium metabolism associated disease (Kalzium Metabolismus assoziierte Erkrankungen)
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes
Cancer Predisposition
Cancer Sequencing and Deletion/Duplication Panel
Cancer: Lynch Syndrome (Hereditary Non-Polyposis Colon Cancer) Multi-Gene Panel
CancerNext
CancerNext - Expanded
Candidiasis, familial (NGS panel for 5 genes)
Cantu Syndrome NGS Panel
Carbohydrate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 64 genes + mtDNA)
Carbohydrate Metabolism Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 11 genes)
Cardiac Arrhythmia Exome Panel
Cardiac Channelopathy Panel
Cardiac Channelopathy Panel; NGS Panel; 39 Genes
Cardiac conduction changes (NGS panel for 27 genes)
Cardiac Conduction System Related Disorders, Panel Massive Sequencing (NGS) 21 Genes
Cardiac defect, developmental (Herzentwicklungsstörungen)
Cardiac Diseases Panel
Cardiac DNA Inisight
Cardio-Facio-Cutaneous Syndrome NGS Panel
Cardiofaciocutaneous syndrome (Cardiofaciocutanes Syndrom)
Cardiofaciocutaneous Syndrome NGS Panel
Cardiofaciocutaneous Syndrome, Panel Massive Sequencing (NGS) 6 Genes
CardioGene Set
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
Cardiomyopathies Del/Dup Panel
Cardiomyopathies, Comprehensive Diagnostics
Cardiomyopathy (41 Gene) Panel
Cardiomyopathy (Dilated) Multi-Gene Panels
Cardiomyopathy (General) Multi-Gene Panels
Cardiomyopathy (Hypertrophic) Multi-Gene Panels
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel of 36 genes)
Cardiomyopathy and Arrhythmia Deletion/Duplication, 83 Genes
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
Cardiomyopathy and Arrhythmia Panel, Sequencing, 85 Genes
Cardiomyopathy and changes in cardiac conduction (NGS panel of 59 genes)
Cardiomyopathy dilated panel
Cardiomyopathy Exome Panel
Cardiomyopathy Gene Set
Cardiomyopathy Hypertrophic Panel
Cardiomyopathy in the Context of Neuromuscular Disease
Cardiomyopathy Panel
Cardiomyopathy, Arrhythmogenic Right Ventricular (ARVC)
Cardiomyopathy, Dilated
Cardiomyopathy, Dilated (DCM)
Cardiomyopathy, dilated (Kardiomyopathie, dilatativ)
Cardiomyopathy, Dilated Panel
Cardiomyopathy, Hypertrophic
Cardiomyopathy, hypertrophic (Kardiomyopathie, hypertroph)
Cardiomyopathy, Hypertrophic Panel
Cardiomyopathy, Restrictive Panel
Cardiomyopathy: Deletion/Duplication Panel
Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Cardiomyopathy: Sequencing Panel
CardioNext -Inherited Cadiovascular Panel
Cardiovascular disease panel
Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE)) Test
Cardiovascular Disease Risk Factor (Apolipoprotein E) Test
Carney Complex
Carnitine deficiency (NGS panel for 6 genes)
Carrier Screening Panel: Ashkenazi Jewish
CASR-Related Disorders Test
Cataract
Cataract (Katarakt)
Cataract Panel
Cataracts (NGS panel of 41 genes)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Deletion/Duplication Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panels
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel
Catecholaminergic polymorphic ventricular tachycardia panel
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Test
Catecholaminergic Polymorphic Ventricular Tachycardia, Panel Massive Sequencing (NGS) 14 Genes
CBL/NRAS Gene Sequencing
CBS Sequence analysis
CCDC103 - Primary Ciliary Dyskinesia, CILD17
CCDC114 - Primary Ciliary Dyskinesia-20, CILD20
CCDC39 - Primary Ciliary Dyskinesia, CILD14
CCDC40 - Primary Ciliary Dyskinesia, CILD15
CCM Del/Dup Panel
CCM Tier 2
CD46 (MCP) Sequence analysis
CDC73-Related Disorders Test
CDG Panel
CDKN2A (p16) and CDK4 (Exon2) Sequencing
CDKN2A-Related Cutaneous Malignant Melanoma Test
CdLSNext -Cornelia de Lange syndrome Panel
Celiac Disease
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Sequencing
Celiac Disease Test
Cell culture of amniotic fluid and screening of the 50 most frequent mutations in the FGFR3, COL2A1 , SLC26A2, CRTAP, LEPRE1 and SOX9 genes
Cellular Energetics Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 22 genes + mtDNA)
CEN4GEN Breast cancer: Extended Sequencing Panel
CEN4GEN Colorectal cancer: Extended Sequencing Panel
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Sequencing Panel
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel
CEN4GEN Gastric cancer: Extended Sequencing Panel
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel
CEN4GEN Lung cancer: Extended Sequencing Panel
CEN4GEN Ovarian cancer: Extended sequencing panel
CEN4GEN Prostate cancer: extended gene sequencing panel
CEN4GEN rapid carrier screen: Full gene sequencing panel
CEN4GEN rapid diagnostic screen: Full gene sequencing panel
CEN4GEN rapid supplemental newborn screen: Full gene sequencing panel
CentoBreast® panel
CentoCancer panel
CentoColon extended panel
Central Hypoventilation and Apnea Panel
Central Hypoventilation Syndrome NGS Panel
Central Hypoventilation Syndrome Panel (6 Genes)
Central Nervous System Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes
Central Precocious Puberty NGS Panel
Centronuclear Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes)
Centronuclear Myopathy Deletion/Duplication Panel
Centronuclear Myopathy Sequencing Panel
Centronuclear Myopathy, Panel Massive Sequencing (NGS) 5 Genes
Cerebellar Hypoplasia NGS Panel
Cerebellar/Pontocerebellar Hypoplasia Deletion / Duplication Panel
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel
Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes
Cerebral Cavernous Malformation (CCM) Sequencing, 3 Genes
Cerebral Cavernous Malformation (CCM1, CCM2 and CCM3) Deletion/Duplication
Cerebral Cavernous Malformation Panel
Cerebral Cavernous Malformation: Deletion/Duplication Panel
Cerebral Cavernous Malformation: Sequencing Panel
Cerebral Cavernous Malformations (CCM) Panel
Cerebral cavernous malformations (NGS panel for 3 genes)
Cerebral Cavernous Malformations Deletion/Duplication Panel
Cerebral Cavernous Malformations NGS Panel
Cerebral Cavernous Malformations Sequencing Panel
Cerebral cavernous malformations type 2 (deletion/duplication analysis of CCM2 and PDCD10 genes)
Cerebral Cortical Malformations Deletion / Duplication panel
Cerebral Cortical Malformations Sequencing panel
Cerebral Creatine Deficiency Syndrome, Panel Massive Sequencing (NGS) GAMT, GATM, SLC6A8 Genes
Ceroid lipofuscinosis (Neuronale Ceroid-Lipofuscinose)
Ceroid Lipofuscinosis Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 genes)
Ceroid lipofuscinosis, neuronal (Neuronale Ceroid-Lipofuscinose)
CFB Sequence analysis
CFC Syndrome- MAP2K1/MAP2K2 Test
CFH Sequence analysis
CFHR1/CFHR3 Deletion Analysis
CFI Sequence analysis
CFTR-Related Disorders Test
CGC Genetics panel for sudden death – standard
CGD Tier 1
CGD Tier2
Charcot Marie Tooth - Axonal Neuropathy Deletion/Duplication Panel
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel
Charcot Marie Tooth - Comprehensive Deletion/Duplication Panel
Charcot Marie Tooth - Comprehensive Sequencing Panel
Charcot Marie Tooth - Demyelinating Neuropathy Deletion/Duplication Panel
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel
Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 genes + mtDNA)
Charcot Marie Tooth Disease Extended NGS Panel
Charcot-Marie-Tooth
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
Charcot-Marie-Tooth (Neuropathie Charcot-Marie-Tooth)
Charcot-Marie-Tooth and Sensory Neuropathies Panel
Charcot-Marie-Tooth CMT type 1 NGS panel
Charcot-Marie-Tooth CMT type 2 NGS panel
Charcot-Marie-Tooth CMT type 4 extended NGS panel
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (NGS panel for 43 genes)
Charcot-Marie-Tooth disease NGS panel
Charcot-Marie-Tooth disease NGS panel Comprehensive Test
Charcot-Marie-Tooth Disease Test; Type 1A (CMT1A), Type 1B (CMT1B) X-linked (CMTX1) - MLPA analysis
Charcot-Marie-Tooth Disease Type 1, Panel Massive Sequencing (NGS) 5 Genes
Charcot-Marie-Tooth disease type 1B72A (CMT1B/CMT2A, deletion/duplication analysis of MPZ and MFN2 genes)
Charcot-Marie-Tooth Disease Type 4, Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,EGR2,PRX,SH3TC2,NEFL Genes
Charcot-Marie-Tooth Disease Type 4, Panel Massive Sequencing (NGS) 11 Genes
Charcot-Marie-Tooth Disease, Deletions-Duplications (MLPA) MFN2 and MPZ Genes
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes
Charcot-Marie-Tooth Disease:Cx32/GJB, MPZ and PMP22 genes
Charcot-Marie-Tooth Neuropathy Panel
Charcot-Marie-Tooth Neuropathy Type 1B Test
Charcot-Marie-Tooth Neuropathy Type 4E Test
CHARGE and Kallmann Syndromes Deletion/Duplication Panel
CHARGE and Kallmann Syndromes Sequencing Panel
CHARGE syndrome (CHARGE Syndrom)
CHARGE Syndrome Test
Chemo DME Panel
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel
Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel
Childhood Epilepsy Panel
Childhood Intersitial Lung Disease Panel
Childhood-Onset Epilepsy Panel
Childhood: Muscle Weakness with High CK (>6x) / Congenital Muscular Dystrophies / Alpha-Dystroglycanopathies
Childhood: Muscle Weakness with Normal or Slightly Elevated CK / Congenital Myopathies
Cholestasis Deletion/Duplication Panel
Cholestasis Intrahepatic
Cholestasis NGS Panel
Cholestasis Panel
Cholestasis Panel (MitomeNGS)
Cholestasis Sequencing Panel
Cholestasis, familial panel
Chondrodysplasia punctata (Chondrodysplasia punctata)
Chondrodysplasia Punctata 2, X-Linked Test
Chondrodysplasia punctata and related disorders NGS panel
Chondrodysplasia punctata Panel
Chondrodysplasia Punctata, Panel Massive Sequencing (NGS) 7 Genes
Choreatic Movement Disorders Panel
Choroideremia
Chromosomal Instability Syndromes Deletion/Duplication Panel
Chromosomal Instability Syndromes NGS Panel
Chromosomal Instability Syndromes Sequencing Panel
Chromosomal Microarray: EmArray Cyto
Chromosome 11p15.5-Related Russell-Silver Syndrome Test
Chromosome 7-Related Russell-Silver Syndrome Test
Chromosome Breakage Disorders NGS Panel
Chromosome Breakage Related Disorders, Panel Massive Sequencing (NGS) 8 Genes
Chromosome Breakage Syndrome Deletion/Duplication Panel
Chromosome Breakage Syndrome Panel
Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing
Chronic Granulomatous Disease Deletion/Duplication Panel
Chronic Granulomatous Disease Panel
Chronic Granulomatous Disease Sequencing Panel
Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes
Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes
Chronic Granulomatous Disease, X-linked Test
Chronic Lymphocytic Leukemia, Mutational status of IGHV genes
Chronic Myeloid Leukemia, BCR-ABL mutation assay
Chronic Pancreatitis Deletion/Duplication Panel
Chronic Pancreatitis NGS Panel
Chronic Pancreatitis Sequencing Panel
Chronic Pancreatitis: SPINK1 gene sequence analysis
CID with associated or syndromic features - Hyper-IgE syndromes (NGS panel of 3 genes)
CID with associated or syndromic features - Immuno-osseous dysplasias (NGS panel of 2 genes)
CID with associated or syndromic features - Inherited bone marrow failure/dyskeratosis congenital (NGS panel of 10 genes)
CID with associated or syndromic features - Thymic defects (NGS panel for 4 genes and deletion of 22q11.2 by MLPA)
CID with associated or syndromic features – DNA repair defects (NGS panel of 8 genes)
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
CID with associated or syndromic features – Congenital Thrombocytopenia (NGS panel of 2 genes)
CID with associated or syndromic features – other syndromes (NGS panel of 16 genes)
Ciliopathies (NGS panel for 90 genes)
Ciliopathies NGS Panel
Ciliopathies Panel
Ciliopathies: Deletion/Duplication Panel
Ciliopathies: Sequencing and Deletion/Duplication Panel
Ciliopathies: Sequencing Panel
Ciliopathy Deletion/Duplication Panel
Ciliopathy panel
Ciliopathy Sequencing Panel
Classic Amyotrophic Lateral Sclerosis Deletion/Duplication Panel
Classic Amyotrophic Lateral Sclerosis Sequencing Panel
Classic Mitochondrial Disease Spotlight Panel
Cleidocranial Dysplasia Test
Cleidocranial Dysplasia, Panel Massive Sequencing (NGS) RUNX2, ALX4, MSX2 Genes
CLN3-Related Neuronal Ceroid-Lipofuscinosis Test
CLN5-Related Neuronal Ceroid-Lipofuscinosis Test
CLN6-Related Neuronal Ceroid-Lipofuscinosis Test
CLN8-Related Neuronal Ceroid-Lipofuscinosis Test
Clopidogrel Sensitivity
CMNext - Cardiomyopathy Panel
CMT - Charcot-Marie-Tooth Neuropathy Multi-Gene NGS Panel
CNS Tumor Gene Set
Coagulation Factor Deficiency Deletion/Duplication Panel
Coagulation Factor Deficiency Panel
Coagulation Factor Deficiency Sequencing Panel
Coagulation NGS Panel
Cobalamin Homocysteine Methionine NGS Panel
Cobalamin Metabolism Panel (MitomeNGS)
Cobalamin/Homocysteine/Methionine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 20 Genes)
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)
Cobblestone Lissencephaly Deletion / Duplication Panel
Cobblestone Lissencephaly Sequencing Panel
Cockayne Syndrome
Cockayne syndrome (Cockayne Syndrom)
Cockayne Syndrome NGS Panel
Cockayne Syndrome Panel
Cockayne syndrome test
Cockayne Syndrome, Panel Massive Sequencing (NGS) ERCC6, ERCC8 Genes
Coenzyme Q Deficiency Panel
Coenzyme Q10 deficiency
Coenzyme Q10 Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 genes)
Coenzyme Q10 deficiency (NGS panel for 8 genes)
CoEnzyme Q10 Deficiency Nuclear Gene Panel
Coenzyme q10 Deficiency Panel
Coenzyme Q10 Deficiency, Panel Massive Sequencing (NGS) 12 Genes
Coenzyme Q10 Ubiquinone Deficiency Deletion/Duplication Panel
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel
Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS)
Coffin-Siris Syndrome
Coffin-Siris syndrome (NGS panel of 5 genes)
Coffin-Siris syndrome deletion/duplication panel
Coffin-Siris syndrome NGS panel
Coffin-Siris syndrome sequencing panel
Coffin-Siris Syndrome, Deletions-Duplications (MLPA) ARID1A and ARID1B Genes
Coffin-Siris Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Cohesinopathies (Cornelia de Lange Syndrome)
COL1A1/2 Related Disorders Panel (MitomeNGS)
COL1A1/2-Related Osteogenesis Imperfecta
COL1A1/2-Related Osteogenesis Imperfecta Test
COL4A1 and COL4A2 gDNA Testing
Cole Carpenter Syndrome
Cole-Carpenter syndrome NGS panel
Collagen Type IV-Associated Disorders and Phenocopies
Collagen Type VI-Related Disorders Panel
Collagen Type VI-Related Disorders Test
Coloboma (Kolobom)
Colon Cancer
Colon Cancer Panel
Colon Cancer, BRAF, KRAS and NRAS genes
Colon Cancer- Hereditary Non-Polyposis Colon Cancer (HNPCC) Panel
Colon Cancer- Polyposis Coli Panel
ColoNext
Colorectal Cancer
Colorectal cancer (Darmkrebs)
Colorectal Cancer Comprehensive Panel
Colorectal Cancer Focus Panel
Colorectal Cancer NGS panel (20 genes)
Colorectal Cancer Panel
Colorectal Cancer Panel test
Colorectal Cancer Sequencing And Deletion/Duplication Panel
Colorectal Cancer Test (genetic predisposition) - panel (CHEK2, NOD2, P16)
Colorectal neoplasia
ColoTrue
Com.Pl.i.t. DX 54 genes - Comprehensive Panel for Individualized Cancer Threatment
Combined Factor V and Factor VIII deficiency (F5F8D)
Combined Immunodeficiencies Panel
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
Combined Pituitary Hormone Deficiency NGS Panel
Combined Pituitary Hormone Deficiency Spotlight Panel
Combined Pituitary Hormone Deficiency, Panel Massive Sequencing (NGS) 6 Genes
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 51 Genes
Common Variable Immune Deficiency Panel
Complement deficiencies - low susceptibility to infections: others (NGS panel of 2 genes)
Complement deficiencies � all subtypes (NGS panel of 33 genes)
Complement deficiencies � Low susceptibility to infections: SLE-like syndrome, atypical hemolytic uremic syndrome and others (NGS panel of 19 genes)
Complement deficiencies � recurrent pyogenic infections (NGS panel of 6 genes)
Complement deficiencies � SLE-like syndrome (NGS panel of 8 genes)
Complement deficiencies �High susceptibility to infections: recurrent pyogenic and Neisserial infections (NGS panel of 15 genes)
Complement Deficiencies Panel
Complement deficiencies – Low susceptibility to infections: Atypical hemolytic uremic syndrome (NGS panel of 9 genes)
Complement genotyping
Complement System (Genetic Study), Panel Massive Sequencing (NGS) 14 Genes
Complement System Disorder Panel
Complex Hereditary Spastic Paraplegia Deletion/Duplication Panel
Complex Hereditary Spastic Paraplegia Sequencing Panel
Complex I Defect
Complex II Defect
Complex III Defect
Complex IV Defect
Complex V Defect
Comprehensive Arrhythmia Panel
Comprehensive Brain Malformations Panel
Comprehensive Cancer Panel
Comprehensive Cardiac Arrhythmia Deletion/Duplication Panel
Comprehensive Cardiac Arrhythmia Sequencing Panel
Comprehensive Cardiomyopathy (NextGen Sequencing Panel and Copy Number Analysis; 131 genes + mtDNA)
Comprehensive Cardiomyopathy Cardiac Arrhythmia Exome Panel
Comprehensive Cardiomyopathy Multi-Gene Panel, Blood
Comprehensive Cardiomyopathy Panel
Comprehensive Cardiovascular: Deletion/Duplication Panel
Comprehensive Cardiovascular: Sequencing Panel
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA)
Comprehensive COLARIS
Comprehensive COLARIS AP
Comprehensive Craniosynostosis Panel
Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 91 genes)
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 and Copy Number Analysis; 96 genes + mtDNA)
Comprehensive Dystonia (NextGen Sequencing Panel, Copy Number Analysis, and HTT Repeat Expansion Analysis; 96 genes + mtDNA)
Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 165 genes + mtDNA)
Comprehensive Epilepsy Panel
Comprehensive Familial Hyperinsulinism 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 Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 349 Genes)
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 102 genes + mtDNA)
Comprehensive Lipodystrophy Deletion/Duplication Panel
Comprehensive Lipodystrophy Sequencing Panel
Comprehensive Lissencephaly panel
Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA)
Comprehensive Metabolism Panel
Comprehensive Miscarriage, Stillbirth, and Neonatal Death Panel
Comprehensive Mitochondrial Nuclear Gene Panel
Comprehensive Monogenic Diabetes Panel
Comprehensive mtDNA Depletion Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 genes)
Comprehensive Muscular Dystrophy / Myopathy Panel
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 186 Genes + mtDNA)
Comprehensive Neonatal Diabetes Mutation Analysis
Comprehensive Neurogenetics Panel (290 genes)
Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA)
Comprehensive Neuropathy Deletion/Duplication Panel
Comprehensive Neuropathy Sequencing Panel
Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 genes + mtDNA)
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
Comprehensive Pharmacogenetic Panel
Comprehensive Primordial Dwarfism Deletion / Duplication Panel
Comprehensive Primordial Dwarfism Sequencing Panel
Comprehensive SCID Panel
Comprehensive Short Stature Syndrome Panel
Comprehensive Skeletal / Malformation Syndrome Panel
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel
Cone Rod Dystrophies Panel
Cone Rod Dystrophy Panel
Cone-Rod Distrophy, Panel Massive Sequencing (NGS) 30 Genes
Cone-rod Dystrophy
Cone-rod dystrophy (NGS panel of 33 genes)
Cone-Rod Dystrophy Deletion/Duplication Panel
Cone-Rod Dystrophy NGS Panel
Cone-Rod Dystrophy Sequencing Panel
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Deletion/Duplication Panel
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel
Congenital Adrenal Hyperplasia Panel
Congenital Adrenal Hyperplasia, Panel Massive Sequencing (NGS) 6 Genes
Congenital Amegakaryocytic Thrombocytopenia , Screening Mutations MPL and JAK2 Genes
Congenital and Distal Myopathies Panel
Congenital and Familial Lipodystrophy Panel
Congenital anomalies of kidney and urinary tract (CAKUT) Multi-Gene Panels
Congenital Cataract, Autosomal Recessive NGS Panel
Congenital Cataracts Deletion/Duplication Panel
Congenital Cataracts Sequencing Panel
Congenital Central Core Myopathy, Panel Massive Sequencing (NGS) RYR1, MYH7, SEPN1, TPM3 Genes
Congenital Central Hypoventilation Syndrome (CCHS) Deletion/Duplication Panel
Congenital Central Hypoventilation Syndrome (CCHS) PHOX2B Screening Test
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel
Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel
Congenital Central Hypoventilation Syndrome: Sequencing Panel
Congenital Central Hypoventilation Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 genes)
Congenital Contractural Arachnodactyly Test
Congenital deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
Congenital defects of phagocyte number and/or function - with neutropenia and non syndromic (NGS panel of 6 genes)
Congenital defects of phagocyte number and/or function – With neutropenia (NGS panel of 15 genes)
Congenital Diarrhea Panel
Congenital Disorders of Glycosylation (CDG)
Congenital Disorders of Glycosylation (CDG) Panel
Congenital disorders of glycosylation (NGS panel for ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1,
Congenital disorders of glycosylation (NGS panel for 39 genes)
Congenital Disorders of Glycosylation Deletion/Duplication Panel 1
Congenital Disorders of Glycosylation Deletion/Duplication Panel 2
Congenital Disorders of Glycosylation NGS Panel
Congenital Disorders of Glycosylation Panel
Congenital Disorders of Glycosylation Sanger Sequencing Panel 1
Congenital Disorders of Glycosylation Sanger Sequencing Panel 2
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes
Congenital Disorders of Glycosylation: Deletion/Duplication Panel
Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel
Congenital Disorders of Glycosylation: Sequencing Panel
Congenital Dyserythropoietic Anemia Deletion/Duplication Panel
Congenital Dyserythropoietic Anemia Panel
Congenital Dyserythropoietic Anemia Sequencing Panel
Congenital Dyserythropoietic Anemia Type I Test (CDAN1 gene)
Congenital Dyserythropoietic Anemia Type II Test (SEC23B)
Congenital Dyserythropoietic Anemia, Panel Massive Sequencing (NGS) 4 Genes
Congenital Dyskeratosis, Panel Massive Sequencing (NGS) 8 genes
Congenital Extraocular Muscles Fibrosis, Panel Massive Sequencing (NGS) 4 Genes
Congenital Fiber Type Disproportion Deletion/Duplication Panel
Congenital Fiber Type Disproportion NGS Panel
Congenital Fiber Type Disproportion Sequencing Panel
Congenital Fiber-Type Disproportion Myopathy, Panel Massive Sequencing (NGS) 6 Genes
Congenital Fibrinogen Deficiency Deletion/Duplication Panel
Congenital Fibrinogen Deficiency Sequencing Panel
Congenital Fibrinogen Disorders, Panel Massive Sequencing (NGS) FGA, FGB, FGG Genes
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Deletion/Duplication Panel
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel
Congenital Generalized Lipodystrophy Deletion/Duplication Panel
Congenital Generalized Lipodystrophy Sequencing panel
Congenital Generalized Lipodystrophy Type 1/2 NGS Panel
Congenital Generalized Lipodystrophy Types 1 and 2 Deletion/Duplication Panel
Congenital Generalized Lipodystrophy Types 1 and 2 Sanger Sequencing Panel
Congenital Glycosylation Disorders (NextGen Sequencing Panel and Copy Number Analysis; 45 Genes)
Congenital Heart Defects (7 Gene) Panel
Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
Congenital Heart Defects Panel
Congenital heart disease NGS panel
Congenital heart disease NGS panel Comprehensive Test
Congenital Heart Disease Panel (3 Genes)
Congenital Hepatic Fibrosis NGS Panel
Congenital Hepatic Fibrosis Panel
Congenital Hyperinsulinism Deletion/Duplication 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 Hyperinsulinism Sequencing Panel
Congenital Hypothyroidism and Thyroid Hormone Resistance Deletion/Duplication Panel
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel
Congenital Hypothyroidism, Nongoitrous, NGS Panel
Congenital Hypothyroidism, Panel Massive Sequencing 22 Genes
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Deletion/Duplication Panel
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 Ichthyosis XomeDxSlice
Congenital Ichthyosis, Panel Massive Sequencing (NGS) 33 Genes
Congenital Indifference to Pain, Autosomal Recessive Test
Congenital Lipodystrophy: AGPAT2 and BSCL2 genes
Congenital Muscular Dystrophies
Congenital muscular dystrophies (NGS Panel for 31 genes)
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes
Congenital Muscular Dystrophy Deletion / Duplication Panel
Congenital Muscular Dystrophy Deletion/Duplication Panel
Congenital Muscular Dystrophy Sequencing Panel
Congenital Muscular Dystrophy Sequencing Panel
Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies
Congenital Muscular Dystrophy: Deletion/Duplication Panel
Congenital Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
Congenital Muscular Dystrophy: Sequencing Panel
Congenital Myasthenia , Mutations (CHRNA1, CHAT, CHRNE, RAPSN) Genes
Congenital Myasthenia, Panel Massive Sequencing (NGS) 12 Genes
Congenital Myasthenic Del/Dup Panel
Congenital myasthenic syndrome
Congenital Myasthenic Syndrome (CMS)
Congenital Myasthenic Syndrome Deletion/Duplication Panel
Congenital Myasthenic Syndrome NGS Panel
Congenital Myasthenic Syndrome Sequencing Panel
Congenital Myasthenic Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)
Congenital Myasthenic Syndromes and Arthrogryposis Panel
Congenital Myasthenic Syndromes Panel
Congenital Myasthenic Syndromes: Deletion/Duplication Panel
Congenital Myasthenic Syndromes: Sequencing Panel
Congenital Myopathies and Muscular Dystrophies Panel
Congenital Myopathy
Congenital Myopathy Deletion / Duplication Panel
Congenital Myopathy Deletion/Duplication Panel
Congenital Myopathy Panel (14 Genes)
Congenital Myopathy Sequencing Panel
Congenital Myopathy Sequencing Panel
Congenital Myopathy with Prominent Contractures Del/Dup Panel
Congenital Myopathy with Prominent Contractures Seq Panel
Congenital Nephrotic Syndrome Panel Massive Sequencing (NGS) 15 Genes
Congenital Neutropenia Panel
Congenital Obesity: Sequencing Panel
Congenital Orders of Glycosylation Spotlight Panel
Congenital Stationary Night Blindness Deletion/Duplication Panel
Congenital Stationary Night Blindness Multi-Gene Panel
Congenital Stationary Night Blindness Panel
Congenital Stationary Night Blindness Sequencing Panel
Congenital Stationary Night Blindness, Panel Massive Sequencing (NGS) 13 Genes
Congenital Stationary Night Blindness: Sequencing and Deletion/Duplication Panel
Congenital Stationary Night Blindness: Deletion/Duplication Panel
Congenital Stationary Night Blindness: Sequencing Panel
Connective Tissue Diseases Panel
Connective tissue diseases: Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel
Connective Tissue Disorders Panel (14 Genes)
Connective Tissue Disorders: Deletion/Duplication Panel
Connective Tissue Disorders: Sequencing Panel
Connective Tissue NGS Panel
Connexin (GJB2 Sequencing and GJB6-D13S1830 Deletion) Test
Connexin Gene Testing
Conotruncal Heart Malformations Related Disorders, Panel Massive Sequencing (NGS) 5 Genes
Contiguous TSC2/PKD1 deletion syndrome
Coproporphyria (Koproporphyrie)
CoQ10 Deficiency
CoQ10 Panel (MitomeNGS)
Core Cardiomyopathy Panel
Core CMT Panel
Core DME Panel
Core Familial Aneurysm Panel
Core Myopathy Deletion/Duplication Panel
Core Myopathy Sequencing Panel
Corneal Dystrophies Deletion/Duplication Panel
Corneal Dystrophies Sequencing Panel
Corneal Dystrophy
Corneal Dystrophy Panel
Corneal Dystrophy, Panel Massive Sequencing (NGS) 20 Genes
Cornelia de Lange NGS Panel
Cornelia de Lange Syndrome
Cornelia de Lange syndrome (Cornelia de Lange Syndrom)
Cornelia de Lange syndrome (NGS panel for 5 genes)
Cornelia de Lange Syndrome Deletion/Duplication Panel
Cornelia de Lange syndrome NGS Comprehensive panel
Cornelia De Lange Syndrome NGS Panel
Cornelia de Lange Syndrome PLUS Sequencing Panel
Cornelia de Lange Syndrome Sequencing Panel
Cornelia de Lange Syndrome Test
Cornelia de Lange Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Cornelia de Lange Syndrome: Deletion/Duplication Panel
Cornelia de Lange Syndrome: Sequencing Panel
Cornelia-de-Lange syndrome (Cornelia de Lange Syndrom)
Coronal Synostosis (Non-Syndromic) Panel
Cortical Brain Malformations Panel
Cowden syndrome (Cowden Erkrankung)
Cowden Syndrome NGS Panel
CPVT Panel
CPVT Sequencing Panel
CPVTNext - Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panel
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes)
Craniofacial Deletion/Duplication panel
Craniofacial Disorders, Panel Deletion-Duplication (MLPA) (FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1, RUNX2) Genes
Craniofacial Panel (19 genes)
Craniofacial Panel Plus MLPA (19 genes)
Craniofacial Sequencing Panel
Craniometaphyseal Dysplasia
Craniosynostosis
Craniosynostosis (NGS panel for 30 genes)
Craniosynostosis (NGS panel for 4 genes)
Craniosynostosis (NGS panel for 5 genes, PND)
Craniosynostosis and Related Disorders Deletion/Duplication Panel
Craniosynostosis and Related Disorders Sequencing Panel
Craniosynostosis core NGS panel
Craniosynostosis mutations panel, prenatal
Craniosynostosis NGS panel
Craniosynostosis NGS panel Comprehensive Test
Craniosynostosis Panel
Craniosynostosis Panel (FGFR1, FGFR2, FGFR3, and TWIST1 sequence analysis and TWIST1 deletion/duplication analysis)
Craniosynostosis syndromes Panel
Craniosynostosis, Sequencing FGFR1 (Exon 7), FGFR2 (Exon 7) and FGFR3 (Exons 6 and 8) Genes
Craniosynostosis: Pfeiffer Syndrome (FGFR1 sequence analysis of exon 5 and FGFR2 exons 8 and 10)
Craniosynostosis: Saethre-Chotzen Syndrome (TWIST deletion/duplication analysis and FGFR3 analysis for P250R mutation)
Craniosynostosis: Saethre-Chotzen Syndrome (TWIST sequence and deletion/duplication analysis and FGFR3 analysis for P250R mutation)
CRC RAScan
Creatine Deficiency NGS Panel
Creatine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes)
Creatine Metabolism Deficiency Panel
Creatine Metabolism Full Gene Sequencing Analysis Panel (3 genes)
Crohn Disease Test
Crouzon Syndrome
Crouzon Syndrome Panel
CTSD-Related Neuronal Ceroid-Lipofuscinosis Test
Currarino syndrome (Currarino-Syndrom)
CustomNext - Epilepsy
CustomNext-Cancer
CustomNext-Cardio
Cutaneous Malignant Melanoma , Deletions-Duplications (MLPA) CDKN2A, CDK4 Genes
Cutaneous Malignant Melanoma, Panel Massive Sequencing (NGS) 11 Genes
Cutis laxa NGS panel
Cutis Laxa Panel
CYP11B1 Del/Dup
CYP2C9 and VKORC Genotyping (Warfarin Sensitivity)
Cystic Disease and Nephronopthisis Gene Set
Cystic Disease of Liver/Kidney Panel
Cystic Fibrosis and Related Diseases NGS Panel
Cystic Fibrosis Related Disorders NGS Panel (excludes CFTR)
Cystic Kidney Disease Panel
Cystic Lung Disease NGS Panel
Cystic Lung Disease Panel
Cystic Lung Disease Panel (8 Genes)
Cystic Lung Disease: Deletion/Duplication Panel
Cystic Lung Disease: Sequencing Panel
Cystinuria
Cystinuria (Cystinurie)
Cystinuria Panel
Cystinuria Sequencing Panel
Cytochrome C Oxidase Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 44 genes + mtDNA)
Cytochrome P450 (13 alleles)
Cytochrome P450 (6 alleles of CYP2D6, CYP2C9, CYP2C19 and CYP3A4)
Cytochrome P450 Oxidoreductase Deficiency Test
 

D 

D-2-Hydroxyglutaric Aciduria Sequencing Panel
Dandy Walker Syndrome (ZIC1 and ZIC4), Deletions/Duplications
DBANext -Diamond-Blackfan Anemia Panel
DCM and DMD related Cardiomyopathy Panel
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)
DCM/LVNC Sequencing Panel
DCMNext - Dilated Cardiomyopathy Panel
DCNext - Dyskeratosis Congenita Panel
Deafness A.R. (39 genes)
Deafness, Autosomal Dominant
Deafness, Autosomal Recessive
Deafness, DFNB1
Deep Vein Thrombosis / Peripheral Arterial Occlusive Disease Test (PAOD) - F5 gene analysis (Leiden mutation) / F2 gene analysis (G20210A mutation) / MTHFR gene analysis - panel
Defects in Innate Immunity Panel
Defects in intrinsic and innate immunity - predominant susceptibility to invasive infections with pyogenic bacteria (NGS panel of 2 genes)
Defects in intrinsic and innate immunity – parasitic infections and fungal diseases (NGS panel of 7 genes) ?CGC ADD DISORDERS
Defects of Phagocytosis Panel
Dejerine-Sottas Disease, Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes
Deletion screening in genes HBA2 and HBA1
delGJB6-D13S1830 (Connexin 30) mutation
Delta Beta Thalassemia , Deletions (MLPA) HBB and HBD Genes
Dementia all Panel
Dementia Deletion/Duplication Panel
Dementia NGS panel
Dementia Panel
Dementia Sequencing Panel
Dementia, frontotemporal (Frontotemporale Demenz)
DEMYELINATING Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 genes + mtDNA)
Demyelinating CMT Panel
Dense Bone Dysplasia NGS panel
Dense Deposit Disease Genetic Evaluation
Dent Disease Sequencing Panel
Dent Disease: sequencing of CLCN5 and OCRL genes
Dentinogenesis Imperfecta, Panel Massive Sequencing (NGS) 4 Genes
Desbuquois dysplasia NGS panel
Detection of deletions and/or duplications in KRIT1, CCM2 y PDCD10 genes by MLPA
Detection of deletions and/or duplications in MSH2/EPCAM gene by MLPA.
Detection of large deletions and duplications in the KCNQ1 and KCNH2 by MLPA
Detection of large deletions and/or duplications in BRCA1 and BRCA2 genes
Detection of large deletions and/or duplications in EXT1 and EXT2 genes by MLPA
Detection of large deletions and/or duplications in MAPT and GRN genes by MLPA
Detection of large deletions and/or duplications in the KCNQ1, KCNE1, KCNH2, KCNE2 y SCN5A genes by MLPA
Detection of large deletions and/or duplications in the KCNQ1, KCNH2, KCNE2 genes by MLPA
Detection of large deletions and/or duplications in the MLH1 and MSH2 genes by MLPA
Detection of large deletions and/or duplications in the MSH6 and PMS2 genes by MLPA
Detection of large deletions and/or duplications in the TSC1 and TSC2 gene by MLPA
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
Developmental disorders of the brain (Gehirnentwicklungsstörungen)
Developmental regression/dementia/psychosis panel
devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
DFNA 2B Nonsyndromic Hearing Loss and Deafness Test
DFNB 1 Nonsyndromic Hearing Loss and Deafness
DGUOK Sequence analysis
Diabetes (MODY)
Diabetes Insipidus Panel
Diabetes Insipidus, Nephrogenic Panel
Diabetes mellitus permanent neonatal (NGS panel for 13 genes)
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Test
Diabetes mellitus, neonatal (Diabetes melltus permanent neonatal)
Diabetes MODY Types 1,2,3,5, Deletions-Duplications (MLPA) HNF4A, GCK, HNF1A, HNF1B Genes
Diabetes MODY Types 4-10, Deletions-Duplications (MLPA) PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS Genes
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes
Diabetes-Obesity NGS Panel
Diamond Blackfan Anemia:RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and RPS7 genes sequence analysis
Diamond-Blackfan Anemia Deletion/Duplication Panel
Diamond-Blackfan Anemia NGS Panel
Diamond-Blackfan Anemia Panel
Diamond-Blackfan Anemia Sequencing Panel
Diamond-Blackfan Anemia, Panel Deletions-Duplications (MLPA) RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 Genes
Diamond-Blackfan Anemia, Sequencing RPL5,RPL11,RPS10 Genes
Diamond-Blackfan Anemia, Sequencing RPL5,RPS10,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7 Genes
Diamond-Blackfan Anemia, Sequencing RPS10,RPS24,RPS7,RPS17 Genes
Diamond-Blackfan Anemia, Sequencing RPS19,RPL5,RPS26,RPL11,RPL35A Genes
Diet And Exercise Panel
Diffuse Lung Disease Comprehensive NGS Panel
Digenic GJB2/GJB3 deafness: Full gene panel sequencing (Rapid testing)
Digenic GJB2/GJB6 deafness: Full gene panel sequencing (Rapid testing)
Dihydropyrimidine Dehydrogenase Deficiency Test
Dilated Cardiomyopathy
Dilated Cardiomyopathy (DCM) Gene Set
Dilated Cardiomyopathy (DCM) Panel
Dilated cardiomyopathy - 10 genes (CMD, NGS panel for ACTC1, CSRP3, LMNA, MYBPC3, MYH7, PLN, SGCD, TCAP, TNNT2 and TPM1 genes)
Dilated cardiomyopathy - 22 genes (CMD, NGS panel for ABCC9, ACTC1, ACTN2, CSRP3, DES, DSG2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN and VCL genes)
Dilated Cardiomyopathy Deletion/Duplication panel
Dilated Cardiomyopathy Multi-Gene Panel, Blood
Dilated Cardiomyopathy NGS Panel
Dilated Cardiomyopathy Panel
Dilated Cardiomyopathy Sequencing Panel
Dilated Cardiomyopathy Test
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 32 Genes
Dilated Cardiomyopathy: Deletion/Duplication Panel
Dilated Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Dilated Cardiomyopathy: Sequencing Panel
Dilated Cardiomyoptahy Test
Diseases of immune dysregulation - Immune dysregulation with colitis (NGS panel of 4 genes)
Diseases of immune dysregulation - Syndromes with autoimmunity/autoimmune lymphoproliferative syndrome (NGS panel of 13 genes)
Diseases of immune dysregulation – hemophagocytic lymphohistiocystosis (NGS panel of 10 genes)
Disorders associated with Malignancy Panel
Disorders of Folate Metabolism and Transport Deletion/Duplication Panel
Disorders of Folate Metabolism and Transport Sequencing Panel
Disproportionate Short Stature: Deletion/Duplication Panel
Disproportionate Short Stature: Sequencing Panel
Distal Arthrogryposes deletion/duplication panel
Distal arthrogryposes NGS panel
Distal Arthrogryposes sequencing panel
Distal arthrogryposis (NGS panel of 10 genes)
Distal Arthrogryposis Deletion/Duplication Panel
Distal Arthrogryposis Sequencing Panel
Distal Arthrogryposis Syndromes NGS Panel
Distal Arthrogryposis Type 1 and 2B , Mutations (TPM2,TNNI2, TNNT3) Genes
Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes
Distal Hereditary Motor Neuropathy Deletion/Duplication Panel
Distal Hereditary Motor Neuropathy NGS Panel
Distal Hereditary Motor Neuropathy Sequencing Panel
Distal Hereditary Myopathy Deletion/Duplication Panel
Distal Hereditary Myopathy NGS Panel
Distal Hereditary Myopathy Sequencing Panel
Distal Renal Tubular Acidosis Deletion/Duplication Panel
Distal Renal Tubular Acidosis Sequencing Panel
DLAT(Pyruvate DeHydrogenase component E2) Sequence analysis
DLD (Pyruvate DeHydrogenase component E3) Sequence analysis
DNAAF1 - Primary Ciliary Dyskinesia, CILD13
DNAAF2 - Primary Ciliary Dyskinesia, CILD10
DNAH11 - Primary Ciliary Dyskinesia, CILD7
DNAH5 - Primary Ciliary Dyskinesia, CILD3
DNAI1 - Primary Ciliary Dyskinesia CILD1
DNAI2 - Primary Ciliary Dyskinesia, CILD9
DNAJC5-Related Neuronal Ceroid-Lipofuscinosis Test
DNAL1 - Primary Ciliary Dyskinesia, CILD16
Dolichoectasia, Panel Massive Sequencing (NGS) 5 Genes
Dopa-Responsive Dystonia Full Gene Sequencing Analysis Panel (3 genes)
Dopa-Responsive Dystonia, Deletions-Duplications (MLPA) GCH1,TH Genes
Dopa-Responsive Dystonia, Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes
Dopamine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes)
Dowling-Degos Disease, Panel Massive Sequencing (NGS) 6 Genes
Dravet syndrome (Dravet Syndrom)
Dravet Syndrome and Myoclonic Epilepsy
Dravet Syndrome Deletion/Duplication Panel
Drug Metabolism Test
DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome Test
Dysautonomia (Dysautonomie)
Dyschromatosis (Dyschromatosis)
Dyskeratosis Congenita (DC) and Related Disorders Deletion/Duplication Panel
Dyskeratosis Congenita (DC) and Related Disorders Sanger Sequencing Panel
Dyskeratosis congenita (NGS panel for 8 genes)
Dyskeratosis Congenita Deletion/Duplication Analysis
Dyskeratosis Congenita NGS Panel
Dyskeratosis Congenita Panel
Dyskeratosis Congenita Sequencing Panel
Dyskeratosis Congenital Panel
Dystonia
Dystonia (Dystonie)
Dystonia (NGS panel for 43 genes)
Dystonia 6 Test
Dystonia All Panel
Dystonia and Related Disorders, Panel Massive Sequencing (NGS) 13 Genes
Dystonia Dyskinesia NGS Panel
Dystonia panel
Dystonia Plus Syndrome Panel
Dystonia Spotlight Panel
Dystonia-Parkinsonism (Parkinson-Dystonie Syndrom)
Dystonia: Sequencing Panel
Dystroglycan-Related Congenital Muscular Dystrophy Deletion/Duplication Panel
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel
Dystroglycanopathies, Panel Massive Sequencing (NGS) 9 Genes
Dystroglycanopathy type B (Dystroglykanopathie Typ B)
Dystroglycanopathy type C (Dystroglykanopathie Typ C)
Dystrogycanopathy type A (Dystroglykanopathie Typ A)
Dystrophic Epidermolysis Bullosa Test
Dystrophies, Congenital Muscular
DYX1C1 - Primary Ciliary Dyskinesia-25, CILD25
 

E 

Early Infantile Epileptic Encephalopathy (EIEE) Spotlight Panel
Early infantile epileptic encephalopathy (NGS panel for 26 genes)
Early Infantile Epileptic Encephalopathy Deletion/Duplication Panel
Early Infantile Epileptic Encephalopathy Multi-Gene Panel
Early Infantile Epileptic Encephalopathy Panel
Early Infantile Epileptic Encephalopathy Panel (15 genes)
Early Infantile Epileptic Encephalopathy Panel plus MLPA (15 genes)
Early Infantile Epileptic Encephalopathy Sequencing Panel
Early infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel de 3 genes)
Early Infantile Epileptic Encephalopathy Types 1,2 and 3, Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes
Early Infantile Epileptic Encephalopathy, Panel Massive Sequencing (NGS) 30 Genes
Early Infantile Epileptic Encephalopathy, Recessive Deletion/Duplication panel
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel
Early Infantile Epileptic Encephalopathy: Dominant and X-linked Deletion/Duplication Panel
Early Infantile Epileptic Encephalopathy: Dominant and X-linked Sequencing Panel
Early Onset Epileptic Encephalopathy Panel
Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel
Early onset Inflammatory Bowel Disease: Deletion/Duplication Panel
Early onset Inflammatory Bowel Disease: Sequencing Panel
Early Onset Obesity NGS Panel
Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel (CardioGeneSeq)
Early-Onset Primary Dystonia (DYT1) Test
Ectodermal dysplasia (Ektodermale Dysplasie)
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A)
Ectodermal Dysplasia NGS Panel
Ectodermal Dysplasia Panel
Ectodermal Dysplasia Sanger Deletion/Duplication Panel
Ectodermal Dysplasia Sequencing Panel
Ectodermal Dysplasia, Panel Massive Sequencing (NGS) 12 Genes
Ectopia Lentis
Ectopia lentis NGS panel
Ectopia Lentis, Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes
Ectrodactyly and Related Disorders, Panel Massive Sequencing (NGS) 4 Genes
Ehlers Danlos syndrome
Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 genes)
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS)
Ehlers-Danlos syndrome (Ehlers-Danlos Syndrom)
Ehlers-Danlos syndrome (NGS panel for 12 genes)
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes
Ehlers-Danlos Syndrome Deletion/Duplication Panel
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 Sequencing Panel
Ehlers-Danlos Syndrome Spotlight Panel
Ehlers-Danlos syndrome type 1 (sequence analysis of COL1A1 and COL1A2 genes)
Ehlers-Danlos syndrome type I (sequence analysis of COL5A1 and COL5A2 genes)
Ehlers-Danlos syndrome type VII (sequence analysis of COL1A1 and COL1A2 genes)
Ehlers-Danlos Syndrome Type VIIA Test
Ehlers-Danlos Syndrome Type VIIB Test
Ehlers-Danlos Syndrome Types I and II, Sequencing COL5A1 and COL5A2 Genes
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, Progeroid Type 1/2 (EDSP1/ EDSP2)
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
Ehlers-Danlos Type 1 and 2 Syndrome: COL5A1 and COL5A2 genes sequence analysis
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (NGS panel of 44 genes)
Ellis Van Creveld syndrome (NGS panel for 14 genes)
Ellis-van Creveld Syndrome
Ellis-van Creveld Syndrome (EVC) Deletion/Duplication Panel
Ellis-van Creveld Syndrome (EVC) Sequencing Panel
Ellis-Van Creveld Syndrome NGS Panel
Ellis-van Creveld Syndrome Test
Ellis-Van Creveld Syndrome, Panel Massive Sequencing (NGS) 6 Genes
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy (Emery-Dreifuss Muskeldystrophie)
Emery-Dreifuss Muscular Dystrophy Panel
Emery-Dreifuss Muscular Dystrophy, Panel Massive Sequencing (NGS) 6 Genes
Endocrine Cancer: Deletion/Duplication Panel
Endocrine Cancer: Sequencing Panel
Endocrine Disorders: Deletion/Duplication Panel
Endocrine Disorders: Sequencing Panel
Endocrine Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 13 Genes
Endometrial Cancer Comprehensive Panel
Endometrial Cancer Focus Panel
Endometrial Cancer Panel
EndoPredict® Test
ENG-Related Hereditary Hemorrhagic Telangiectasia Test
EPCAM Large Rearrangement Analysis
Epidermodysplasia Verruciformis, Panel Massive Sequencing (NGS) TMC6, TMC8 Genes
Epidermolysis Bullosa (EBSeq) Panel
Epidermolysis Bullosa Deletion/duplication panel
Epidermolysis bullosa dystrophica (NGS panel for 2 genes)
Epidermolysis bullosa junctional (NGS panel for 5 genes)
Epidermolysis bullosa late-onset junctional - 5 genes (NGS panel for COL17A1, LAMA3, LAMB3, LAMC2 and ITGB4 genes)
Epidermolysis Bullosa NGS Panel
Epidermolysis Bullosa NGS panel Comprehensive Test
Epidermolysis Bullosa Panel
Epidermolysis bullosa simplex (NGS panel for 4 genes)
Epidermolysis Bullosa Simplex, Sequencing Exons (1,5,7) KRT5 Gene and Exons (1, 4-7) KRT14 Gene
Epidermolysis Bullosa with Pyloric Atresia, Panel Massive Sequencing (NGS) ITGB4, ITGA6, PLEC Genes
Epidermolysis Bullosa, Panel Massive Sequencing (NGS) 8 Genes
Epideromolysis Bullosa
EpiFirst - Fever
EpiFirst - Focal (Non-Lesional Focal Epilepsy)
EpiFirst - IS (Infantile Spasms)
EpiFirst - Neonate
Epilepsy
Epilepsy and Hypomyelination
Epilepsy and Mitochondrial Encephalopathy
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel
Epilepsy and Seizure Disorders: Deletion/Duplication Panel
Epilepsy and Seizure Disorders: Sequencing Panel
Epilepsy and X-linked Mental Retardation Panel
Epilepsy and X-Linked Mental Retardation with Seizures Panel
Epilepsy Exome Panel
Epilepsy Hereditary Panel
Epilepsy Panel
Epilepsy, benign neonatal (benigne familiäre neonatale Epilepsie)
Epilepsy, childhood absence (juvenile Absenzepilepsie)
Epilepsy, early infantile (benigne frühkindliche Epilepsie)
Epilepsy, generalized with febrile seizures plus (GEFS+) (Generalisierte Epilepsie mit Fieberkrämpfen plus)
Epilepsy, juvenile absence (juvenile Absenzenepilepsie)
Epilepsy, nocturnal frontal lobe (nächtliche Frontallappenepilepsie, autosomal-dominant)
Epilepsy, progressive myoclonic (progressive Myoklonusepilepsien)
Epilepsy, progressive myoclonic type II/ Lafora (progressive myoklonus-Epilepsie Typ 2/Lafora)
Epilepsy: Dravet Syndrome Sequencing Panel
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Deletion/Duplication Panel
Epilepsy: Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Sequencing Panel
Epilepsy: Ohtahara Syndrome Sequencing Panel
EpilepsyNext
Epileptic Encephalopathies
Epileptic Encephalopathy
Epileptic Encephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
Epileptic encephalopathy (NGS panel for 67 genes)
Epileptic Encephalopathy Panel
Epileptic Encephalopathy – Basic Diagnostics
Epileptic encephalopathy, early infantile (frühinfantile Epileptische Enzephalopathie)
Epileptic Encephalopathy, Panel Massive Sequencing (NGS) 33 Genes
Epiphyseal dysplasia (Epiphysäre Dysplasie)
Epiphyseal dysplasia multiple (NGS panel for 7 gene)
EpiRapid - Rapid epilepsy test
epiSEEK Focus
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
Episodic Ataxia
Episodic Ataxia (Episodische Ataxie)
Episodic Ataxia and Phenocopies
Episodic Ataxia Panel
Episodic Ataxia, Panel Massive Sequencing (NGS) 4 Genes
Episodic Pain Syndrome Sequencing Panel
Erythrocytes, Anemia Panel
Erythrocytosis (Erythrozytosis)
Erythrocytosis, familial/ Polycythemia (Polyzythämie/ Erythrozytose)
Erythrokeratodermia Variabilis et Progressiva, Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes
Erythropoietic Protoporphyria, Autosomal Recessive Test
Esophageal cancer
Essential Epilepsy Panel
ExoNIM Aicardi - Goutieres Syndrome
ExoNIM Autism Spectrum Disorders
ExoNIM Charcot ­- Marie­ - Tooth Syndrome
ExoNIM Plus Epìlepsy
ExonMIN RASopathies
Exostoses multiple (sequence analysis of EXT1 and EXT2 genes)
Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes)
Exostoses, multiple, type I and II (EXT1 / EXT2)
Expanded Hearing Loss Panel, Deletion/Duplication (53 Genes)
Expanded Hearing Loss Panel, Sequencing (56 Genes)
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
Expanded Neuromuscular Disorders: Sequencing Panel
Expanded RASopathy Panel (14 Genes)
EXT1 and EXT2 Sequencing and Del/Dup
External ophthalmoplegia (Externe Opthalmoplegie)
Exudative vitreoretinopathy (Exsudative Vitreoretinopathie)
Exudative vitreoretinopathy NGS panel
Eye Diseases Panel
Eye Disorders NGS Panel
Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel
Eye Disorders: Comprehensive Sequencing Panel
Eye Disorders: Deletion/Duplication Panel
 

F 

Fabry Disease Test
Facial Dysostosis and Related Disorders Panel
Facial Dysostosis Deletion/Duplication panel
Facial Dysostosis Related Disorders Deletion/Duplication Panel
Facial Dysostosis Related Disorders Sequencing Panel
Facial Dysostosis Related Disorders, Panel Massive Sequencing (NGS) 10 Genes
Facial Dysostosis Sequencing Panel
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype)
Factor V (5) Leiden Mutation (G1691A)
Factor V Cambridge Thrombophilia
Factor V Leiden Thrombophilia Test
Familial Adenomatosis Polyposis
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis Panel: (APC) Sequencing and Deletion/Duplication, (MUTYH) 2 Mutations
Familial Adenomatous Polyposis Type 2 , Sequencing MUTYH Gene
Familial Adenomatous Polyposis Type 2, Screening Mutations MUTYH Gene
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) 7 Genes
Familial Adenomatous Polyposis, Panel Massive Sequencing (NGS) APC and MUTYH Genes
Familial Amyloidosis and Related Disorders, Panel Massive Sequencing (NGS) 8 Genes
Familial Amyotrophic Lateral Sclerosis
Familial Aortic Diseases , Panel Massive Sequencing (NGS) 8 Genes
Familial Aortic Diseases , Sequencing (FBN1, FBN2, TGFBR2) Genes
Familial Aortopathy Full Gene Sequencing Panel (CardioGeneSeq)
Familial Arrhythmia Full Gene Sequencing Panel (CardioGeneSeq)
Familial Atrial Fibrillation Syndrome Deletion/Duplication Panel
Familial Atrial Fibrillation Syndrome Sequencing Panel
Familial Atrial Fibrillation, Panel Massive Sequencing (NGS) 13 Genes
Familial Atrial Septal Defect, Isolated, Non-Syndromic NGS Panel
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 (sequence analysis of BRCA1 and BRCA2 genes)
Familial Cardiomyopathy Full Gene Sequencing Panel (CardioGeneSeq)
Familial Cerebral Cavernous Malformation Test
Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes
Familial Congenital Heart Disease Full Gene Sequencing Panel (CardioGeneSeq)
Familial Congenital Mirror Movements, Massive Sequencing (NGS) DCC, RAD51 Genes
Familial Cutaneous Malignant Melanoma
Familial dilated cardiomyopathy (sequence analysis of LMNA, exons 13, 16 and 23 of MYH7 gene and exons 9, 10, 13 and 15 of TNNT2 gene)
Familial Dysautonomia Test
Familial Epilepsy and Related Disorders, Panel Massive Sequencing (NGS) 35 Genes
Familial Erythrocytosis, Panel Massive Sequencing (NGS) 4 Genes
Familial exudative vitreoretinopathy (FEVR)
Familial Exudative Vitreoretinopathy and Wagner Syndrome Panel
Familial Exudative Vitreoretinopathy and Wagner Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Familial Exudative Vitreoretinopathy, Deletions-Duplications (MLPA) NDP, LRP5, FZD4 Genes
Familial Focal Epilepsy
Familial Hemiplegic Migraine
Familial hemiplegic migraine (NGS panel for 3 genes)
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes
Familial Hemiplegic Migraine Deletion/Duplication Panel
Familial hemiplegic migraine NGS panel
Familial Hemiplegic Migraine Sequencing Panel
Familial Hemiplegic Migraine, Deletions-Duplications (MLPA) CACNA1A and ATP1A2 Genes
Familial Hemophagocytic Lymphohistiocytosis (FHL) Deletion/Duplication Panel
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel
Familial Hemophagocytic Lymphohistiocytosis NGS Panel
Familial Hemophagocytic Lymphohistiocytosis, Panel Massive Sequencing (NGS) 16 Genes
Familial Hyperaldosteronism Type I (Glucocorticoid-Remediable Aldosteronism)
Familial Hypercholesterolemia
Familial Hypercholesterolemia Deletion/Duplication Panel
Familial Hypercholesterolemia NGS Panel
Familial Hypercholesterolemia Panel 1
Familial Hypercholesterolemia Panel 2
Familial Hypercholesterolemia Sequencing Panel
Familial Hypercholesterolemia Test
Familial Hypercholesterolemia Type B Test
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel
Familial Hypercholesterolemia, Panel Massive Sequencing (NGS) 4 Genes
Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel
Familial Hyperinsulinism NGS Panel
Familial Hyperinsulinism, NGS panel
Familial Hypertrophic Cardiomyopathy , Sequencing (ACTC1,MYL2,MYL3,TNNC) Genes
Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes
Familial Hypobetalipoproteinemia, Panel Massive Sequencing (NGS) 4 Genes
Familial Hypocalciuric Hypercalcemia (FHH) Deletion/Duplication Panel
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel
Familial Hypocalciuric Hypercalcemia (FHH), Panel Massive Sequencing AP2S1, CASR, GNA11 Genes
Familial Hypoglycemia Hyperinsulinemia, Panel Massive Sequencing (NGS) 7 Genes
Familial Hypomagnesemia, Panel Massive Sequencing (NGS) 8 Genes
Familial Hypophosphatemic Rickets: deletions-duplications analysis (MLPA) PHEX and FGF23 genes.
Familial Intrahepatic Cholestasis Test
Familial Intrahepatic Cholestasis, Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes
Familial Lipoprotein Lipase Deficiency Test
Familial Mediterranean Fever Test
Familial Mediterranean Fever/ Periodic Fever (Mittelmeer- /periodisches Fieber)
Familial Melanoma Panel
Familial Pancreatic Cancer, Panel Massive Sequencing (NGS) 19 Genes
Familial Partial Lipodystrophy, Kobberling Type
Familial Prostate Cancer, Panel Massive Sequencing (NGS) 12 Genes
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 14 Genes
Familial Thoracic Aortic Aneurysm and Aortic Dissection (TAAD) Panel (9 Genes) Test
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
Familial Thoracic Aortic Aneurysm NGS Panel
Familial Thyroid Dyshormonogenesis , Deletions-Duplications (MLPA) (TPO, PAX8, FOXE1, NKX2-1, TSHR) Genes
Familial Thyroid Dyshormonogenesis, Panel Massive Sequencing (NGS) 10 Genes
Familial Tumor Syndromes Panel
Family Prep Screen
Fanconi Anemia
Fanconi anemia - 15 genes (NGS panel for BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C and SLX4 genes)
Fanconi Anemia Cancer Comprehensive Panel
Fanconi Anemia Deletion/Duplication Panel
Fanconi Anemia Multi-Gene NGS Panel
Fanconi Anemia NGS Panel
Fanconi Anemia NGS panel Comprehensive Test
Fanconi Anemia Panel
Fanconi Anemia Sequencing Panel
Fanconi Anemia, Panel Massive Sequencing (NGS) 16 Genes
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Test
Fatty Acid Oxidation Deficiency NGS Panel
Fatty Acid Oxidation Related Disorders, Panel Massive Sequencing (NGS) 19 Genes
Fatty Acid Oxidation Sequencing Panel
Fatty Acid Oxidation Syndrome Panel
Febrile Seizures
Febrile seizures (fiebergebundene Anfälle)
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
Fetal akinesia / congenital myasthenia
Fetal Akinesia Deformation Sequence / LMPS / Related Disorder Panel
Fetal akinesia deformation sequence Test
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Deletion/Duplication Panel
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
Fever Sensitive Seizures Spotlight Panel
Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes)
FEVR Panel (MitomeNGS)
FGFR-Related Craniosynostosis NGS Panel
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
FGFR1, FGFR2, FGFR3 and TWIST1 related craniosynostosis panel
FGFR1-Related Craniosynostosis Test
FGFR2-Related Craniosynostosis Test
FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
FGFR3-Related Craniosynostosis Test
FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome Test
FHNext - Familial Hypercholesterolemia Panel
Fibrillinopathy NGS panel
Fibrillinopathy NGS panel Comprehensive Test
Fibrochondrogenesis NGS panel
FISH analysis of CKS1B/CDKN2C genes amplification/deletion
FISH PANEL-Langer Giedion
FISH PANEL-Multiple Exostoses
FISH test on peripheral Blood/Bone marrow, BCR/ABL or Philadelphia translocation
FISH test on peripheral Blood/Bone marrow, t(11;14) or LSI IGH/CCND1
FISH test on peripheral Blood/Bone marrow, t(12;21) or LSI TEL/AML1
FISH test on peripheral Blood/Bone marrow, t(15;17) or LSI PML/RARA
FISH test on peripheral Blood/Bone marrow, t(8;21) or LSI ETO/AML1
FISH-Beckwith-Wiedemann Syndrome
FISH-Multiple Exostoses 2/Potocki-Shaffer Syndrome
FISH-WAGR Syndrome
Flecked Retina Disorder Deletion/Duplication Panel
Flecked Retina Disorder Sequencing Panel
Flecked Retina Disorders Panel
Flecked-retina Disorders: Deletion/Duplication Panel
Flecked-retina Disorders: Sequencing and Deletion/Duplication Panel
Flecked-retina Disorders: Sequencing Panel
FMR1-Related Disorders Test
Focal Dermal Hypoplasia Test
Focal Segmental Glomerulosclerosis
Focal Segmental Glomerulosclerosis Panel
Focal Segmental Glomerulosclerosis, Panel Massive Sequencing (NGS) 10 Genes
Focal Seizures Spotlight Panel
Focus Cancer Panel
Foveal hyperplasia (Foveale Hypoplasie)
Fragile X syndrome (Fragiles X Syndrom)
Fragile X Syndrome Test
Fraser Syndrome Deletion/Duplication Panel
Fraser Syndrome Sequencing Panel
Fraser Syndrome, Panel Massive Sequencing (NGS) FRAS1,FREM2,GRIP1 Genes
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS)
Frontonasal Dysplasia, Panel Massive Sequencing (NGS) 5 Genes
Frontotemporal Dementia
Frontotemporal dementia (deletion/duplication analysis of MAPT and GRN genes)
Frontotemporal Dementia (FTD) Panel
Frontotemporal Dementia (MAPT and GRN)
Frontotemporal Dementia, Deletions-Duplications (MLPA) MAPT and GRN Genes
Frontotemporal Dementia, Panel Massive Sequencing (NGS) 8 Genes
Fucosidosis Test
FUS-Related Amyotrophic Lateral Sclerosis Test
FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Test
 

G 

GABA Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 30 Genes)
GAII/MADD Tiered Sequencing Panel
Gallbladder disease (Galle and Gallenblasen Erkrankungen)
Gangliosidosis (Gangliosidose)
Gastric Cancer
Gastric Cancer (Magenkarzinom)
Gastric Cancer Comprehensive Panel
Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel
Gastrointestinal and Colorectal Cancer: Sequencing Panel
Gastrointestinal Atresia Panel
Gastrointestinal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 16 Genes
Gastrointestinal Stromal Tumor
Gastrointestinal Stromal Tumor Test
Gastrointestinal Stromal Tumor – Basic Diagnostics
Gastrointestinal Stromal Tumor, Sequencing Exons (9,11) KIT Gene and Exons (12,18) PDGFRA Gene
Gastrointestinal Stromal Tumors (GIST): c-KIT and PDGFRa genes
GCK Gene Sequencing and Del/Dup
Gedi-O, Genetic Eye Disease Panel for Optic Neuropathy and Early onset Glaucoma
Gedi-R, Genetic Eye Disease Panel for Retinal Genes
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
Genelex Polypharmacy Comprehensive Panel
Genelex Polypharmacy Panel
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 6 Genes
Genetic Disorders with Abnormal Pigmentation Panel
Genetic Epidermolyses and Blistering Disorders Panel
Genetic Renal Panel
Genotyping of the ALDH2*2. ADH1B*47His and ADH1C*349Ile polymorphisms
GH1 - Isolated Growth Hormone Deficiency
GHR - Growth hormone resistance ; Laron Syndrome
GHRHR - Isolated Growth Hormone Deficiency
GHSR - Partial Isolated Growth Hormone Deficiency ; idiopathic short stature
Giant axonal neuropathy (Riesenaxonneuropathie)
GJB2 and GJB6 Related Nonsyndromic Hearing Loss and Deafness
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6)
GJB2/GJB6-Related DFNA3 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6)
GJB4-Related Erythrokeratodermia Variabilis Test
Glanzmann Thrombasthenia: ITGA2B and ITGB3 genes
Glanzmann's Thrombasthenia Deletion/Duplication Panel
Glanzmann's Thrombasthenia Sequencing Panel
Glaucoma
Glaucoma (Glaukom)
Glaucoma Deletion/Duplication Panel
Glaucoma NGS Panel
Glaucoma Panel
Glaucoma Sequencing Panel
Glaucoma, Panel Massive Sequencing (NGS) 19 Genes
GLI2 - combined pituitary hormone deficiency
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel
Glucocorticoid Deficiency Panel
Glucose-6-Phosphate Dehydrogenase Deficiency Test
GLUD1-Related Hyperinsulinism Test
Glutaric Acidemia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 8 genes)
Glutaric Acidemia Type 2 Test
Glutaric Acidemia Type II Deletion/Duplication Panel
Glutaric Acidemia Type II Sequencing Panel
Glutaric Aciduria Panel
Glycine Encephalopathy , Deletions-Duplications (MLPA) GLDC, AMT, GCSH Genes
Glycine Encephalopathy Panel
Glycine Encephalopathy, Panel Massive Sequencing (NGS) GLDC, AMT, GCSH Genes
Glycogen Storage Disease
Glycogen storage disease (Glykogenose)
Glycogen storage disease (NGS panel for 13 genes)
Glycogen storage disease (NGS panel for 22 genes)
Glycogen Storage Disease and Disorders of Glucose Metabolism Deletion/Duplication Panel
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel
Glycogen Storage Disease Type V Test
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes
Glycogen Storage Disorder Panel
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel
Glycogen Storage Disorders- Liver: Sequencing Panel
Glycogen Storage Disorders- Muscle: Sequencing Panel
Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel
Glycogen Storage Disorders- Muscle: Sequencing Panel
Glycogen Storage Disorders: Comprehensive Sequencing Panel
Glycogen Storage Disorders: Deletion/Duplication Panel
Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2
Growth Hormone deficiency (Wachstumshormon-Mangel)
Growth Hormone Deficiency, Panel Massive Sequencing (NGS) 7 Genes
GSD Comprehensive Panel
GSD Liver Panel (MitomeNGS)
GSD Muscle Panel
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Test
GTP Cyclohydrolase 1-Related Disorders Test
GYNPlus
 

H 

HADHA/HADHB Gene Sequencing
HAMP-Related Juvenile Hemochromatosis Test
Hb Barts: Full gene panel sequencing (Rapid testing)
Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing)
Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing)
HBA1 and HBA2 Deletion Analysis
HBA1 and HBA2 Gene Sequencing
HBA1 and HBA2 genes (sequence analysis)
HBG1/2 Gene and Promoter Sequencing
HCM Sequencing Panel
HCMFirst - Hypertrophic Cardiomyopathy Panel
HCMNext - Hypertrophic Cardiomyopathy Panel
Hearing impairment (inherited causes)
Hearing Loss Mitochondrial DNA Panel
Hearing Loss NGS Panel
Hearing Loss Panel
Hearing Loss Panel Tier 1
Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations
Hearing Loss, Nonsyndromic, Autosomal Dominant and X-Linked Panel
Hearing Loss, Nonsyndromic, Autosomal Recessive and X-Linked Panel
Hearing Loss, Nonsyndromic, Mitochondrial DNA 2 Mutations
Hearing Loss/Deafness Multi-Gene Panel
Hearing Loss/Deafness Multi-Gene Panels
Hearing Loss: Aminoglycoside-Induced Mitochondrial Deafness
Hearing Loss: GJB2 and GJB6 Gene Deletion/Duplication Panel
Hearing Loss: GJB2 and GJB6 Gene Sequencing Panel
Hearing Loss: GJB2 and GJB6 Sequencing, GJB6 Common Deletion, and Targeted Mitochiondrial Analysis Panel
Hearing Loss: GJB2 and GJB6 Sequencing, GJB6 Common Deletion, and Targeted Mitochondrial Analysis Panel
Hearing Loss: Non-Syndromic, Autosomal Recessive
Hearing Loss: Sequencing Panel
Hearing Loss: Targeted Mitochondrial Mutation Panel
Heart Panel
Hematologic Malignancy Cancer Comprehensive Panel
Hematologic Malignancy Mutation Panel
Hematopoietic Disorders Gene Set
Hemihypertrophy
Hemiplegia / Stroke NGS Panel
Hemochromatosis (Hämochromatose)
Hemochromatosis NGS Panel
Hemoglobin alpha-related disorders Test
Hemoglobin beta-related disorders Test
Hemoglobin Evaluation Reflexive Cascade
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations
Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes)
Hemolytic Anemia Deletion/Duplication Analysis
Hemolytic Anemia Panel
Hemolytic uremic syndrome 2, atypical (AHUS2, deletion/duplication analysis of CD46 and CFI gene)
Hemolytic Uremic Syndrome Panel
Hemolytic-Uremic syndrome
Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis (Hämophagozytische Lymphohistiozytose)
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes)
Hemophagocytic Lymphohistiocytosis Panel
Hemophagocytic Lymphohistocytosis Deletion/Duplication Panel
Hemophagocytic syndrome NGS panel
Hemophilia A Test
Hemophilia A/B, Sequencing F8 and F9 Genes
Hemophilia B Test
Hemorrhagic Telangiectasia, Hereditary: ENG and ACVRL1 (ALK1) genes deletions-duplications analysis (MLPA)
Hepatic Porphyria, Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX
Hereditary ataxias (NGS panel for 37 genes)
Hereditary Breast 6 Gene Panel
Hereditary Breast and Ovarian cancer
Hereditary Breast and Ovarian Cancer 19-gene panel
Hereditary Breast and Ovarian Cancer BRCA1/2 Sequencing and Deletion/Duplication Panel
Hereditary Breast and Ovarian Cancer BRCA1and2
Hereditary Breast and Ovarian Cancer Panel
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel
Hereditary Breast and Ovarian Cancer Syndrome - HBOC HIGH RISK Sequencing and Deletion/Duplication Panel
Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Deletion/Duplication Panel
Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene Sequencing and Deletion/Duplication Panel
Hereditary Breast and Ovarian Cancer Syndrome: BRCA1/BRCA2 Gene Sequencing Panel
Hereditary Breast and Ovarian Cancer Test
Hereditary Breast Cancer 4 Gene Panel
Hereditary Breast/Colon Panel
Hereditary Cancer Panel 'For Her'
Hereditary Cancer Panel 'For Him'
Hereditary Cancer Panel 170 PLUS
Hereditary Cancer Syndrome: Sequencing Panel
Hereditary Cancer Syndromes, Comprehensive Diagnostics
Hereditary Cardiac Arrhythmia (NextGen Sequencing Panel and Copy Number Analysis; 57 genes)
Hereditary cerebral cavernous malformation NGS panel
Hereditary Chronic Pancreatitis , Deletions-Duplications (MLPA) PRSS1 and SPINK1 Genes
Hereditary Colon and Endometrial Cancer-ColoNGS
Hereditary Colon Cancer Panel
Hereditary Colon Cancer, Panel Massive Sequencing (NGS) 15 Genes
Hereditary Colorectal Cancer Panel
Hereditary Coproporphyria Test
Hereditary Deafness, Deletions (GJB2, GJB6) Genes and OTOF Gene Mutation (Q829X)
Hereditary Degenerative Syndromes Panel
Hereditary Dementias Multi-Gene NGS Panel
Hereditary Elliptocytosis, Panel Massive Sequencing (NGS) 4 Genes
Hereditary Endocrine Cancer Panel
Hereditary Erythrocytosis Panel Test
Hereditary Essential Tremor, Panel Massive Sequencing (NGS) DRD3, TENM4, FUS Genes
Hereditary Fructose Intolerance Test
Hereditary Fructose Intolerance, Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes
Hereditary Gastric Cancer Panel
Hereditary Gastric Cancer, Panel Massive Sequencing (NGS) 9 Genes
Hereditary Gastrointestinal Cancer Panel
Hereditary Gynecological Cancer Panel
Hereditary Hemochromatosis
Hereditary Hemochromatosis Deletion/Duplication Panel
Hereditary Hemochromatosis Panel
Hereditary Hemochromatosis Sequencing Panel
Hereditary Hemochromatosis Spotlight Panel
Hereditary Hemochromatosis, Panel Massive Sequencing (NGS) 6 Genes
Hereditary Hemolytic Anemia Sequencing, 28 Genes
Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
Hereditary Hemorrhagic Telangiectasia (HHT) Deletion/Duplication Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Deletion/Duplication, 5 Genes
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing Deletion/Duplication, 5 Genes
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing, 5 Genes
Hereditary Hemorrhagic Telangiectasia , Deletions-Duplications (MLPA) (ENG,ACVRL1,BMPR2) Genes
Hereditary Hemorrhagic Telangiectasia , Panel Massive Sequencing (NGS) (ENG, ACVRL1 and SMAD4) Genes
Hereditary Hemorrhagic Telangiectasia Deletions/Duplications and Sequencing
Hereditary Hemorrhagic Telangiectasia NGS Panel
Hereditary Hemorrhagic Telangiectasia Panel
Hereditary Hemorrhagic Telangiectasia test
Hereditary Hemorrhagic Telangiectasia Test (ENG/ACRVL1)
Hereditary Hemorrhagic Telangiectasia Testing (ENG/ACRVL1)
Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis
Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Large Deletion/Duplication, Molecular Analysis
Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel
Hereditary Hemorrhagic Telangiectasia: Sequencing Panel
Hereditary Hypophosphatemic Rickets with Hypercalciuria Test
Hereditary Leukemia and Breast Cancer Panel
Hereditary Leukemia Panel
Hereditary Lung Cancer Panel
Hereditary Melanoma and Skin Cancer Panel
Hereditary Melanoma Deletion/Duplication panel
Hereditary Melanoma Sequencing Panel
Hereditary Motor Neuropathy Panel
Hereditary Multiple Osteochondromas (HM Exostoses) NGS Panel
Hereditary Multiple Osteochondromas (HMO) Deletion/Duplication Panel
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel
Hereditary Multiple Osteochondromas test
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Deletion/Duplication Panel
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Sequencing Panel
Hereditary Neuropathies
Hereditary Neuropathies NGS Panel
Hereditary Neuropathies: Deletion/Duplication Panel
Hereditary Neuropathies: Sequencing Panel
Hereditary Neuropathy Panel
Hereditary neutropenia (NGS panel for 22 genes)
Hereditary Non-Polyposis Colon Cancer, Deletions-Duplications (MLPA) MLH1/MSH2 Genes
Hereditary Non-Polyposis Colon Cancer, Panel Massive Sequencing (NGS) MLH1,MSH2,MSH6,PMS1 and PMS2 Genes
Hereditary Non-Polyposis Colorectal Cancer
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome
Hereditary nonpolyposis colorectal cancer (HNPCC, deletion/duplication analysis on MLH1, MSH2 and EPCAM genes)
Hereditary nonpolyposis colorectal cancer (HNPCC, NGS panel for 3 genes)
Hereditary nonpolyposis colorectal cancer (HNPCC, NGS panel for 5 genes)
Hereditary nonpolyposis colorectal cancer (HNPCC, sequence analysis of MLH1 and MSH2 genes)
Hereditary Optic Atrophy
Hereditary Pancreatic Cancer (BRCA2, PALB2)
Hereditary Pancreatic Cancer Panel
Hereditary Pancreatitis
Hereditary pancreatitis (NGS panel for 5 genes)
Hereditary Pancreatitis Panel
Hereditary Pancreatitis Test
Hereditary Pancreatitis, Panel Massive Sequencing (NGS) 5 Genes
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel
Hereditary Paraganglioma-Pheochromocytoma Panel
Hereditary Paraganglioma-Pheochromocytoma Syndrome Deletion/Duplication Panel
Hereditary Paraganglioma-Pheochromocytoma Syndrome Panel Test
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel
Hereditary Paraganglioma-Pheochromocytoma Syndromes Panel
Hereditary Paraganglioma/Pheochromocystoma (SDHB, SDHC, and SDHD deletion/duplication analysis)
Hereditary Paraganglioma/Pheochromocystoma (SDHB, SDHC, and SDHD sequence and deletion/duplication analysis)
Hereditary Parganglioma-Pheochromocytoma Syndromes
Hereditary PCC-PGL Panel (Sequence and deletion/duplication analysis)
Hereditary Pediatric Cancer Panel
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel
Hereditary Periodic Fever Syndromes: Sequencing Panel
Hereditary peripheral neuropathies including Charcot-Marie-Tooth disease (NGS panel for 74 genes)
Hereditary Peripheral Neuropathy, Panel Massive Sequencing (NGS) 31 Genes
Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations
Hereditary Pheochromocytoma and Paraganglioma Panel
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes
Hereditary Pheochromocytoma-Paraganglioma Syndrome, Deletions-Duplications (MLPA) (SDHD,SDHB,SDHC) Genes
Hereditary Pyropoikilocytosis (HPP, SPTA1, SPTB)
Hereditary Pyropoikilocytosis Test
Hereditary Renal Cancer Panel
Hereditary Renal Cancer, Panel Massive Sequencing (NGS) 22 Genes
Hereditary Sarcoma (Susceptibility to), Panel Massive Sequencing (NGS) 25 Genes
Hereditary Sensory and Autonomic Neuropathy and Hereditary Pain Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 21 genes)
Hereditary Sensory and Autonomic Neuropathy Deletion/Duplication Panel
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel
Hereditary Sensory and Autonomic Neuropathy Type IC Test
Hereditary Sensory and Autonomic Neuropathy Type IIA Test
Hereditary Sensory and Autonomic Neuropathy Type IIB Test
Hereditary Sensory and Autonomic Neuropathy Type V Test
Hereditary Sensory Neuropathy Panel
Hereditary Sensory Neuropathy Type IA Test
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia (HSP)
Hereditary Spastic Paraplegia (HSP) – Basic Diagnostics
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel
Hereditary Spastic Paraplegia Comprehensive Deletion/Duplication Panel
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel
Hereditary Spastic Paraplegia, Autosomal Recessive
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
Hereditary Spastic Paraplegias (HSP) Multi-Gene NGS Panel
Hereditary Spherocytosis Autosomal Dominant NGS Panel
Hereditary spherocytosis Multi-Gene Panels
Hereditary Spherocytosis NGS Panel
Hereditary Spherocytosis, Panel Massive Sequencing (NGS) 5 Genes
Hereditary Thyroid Cancer Panel
Hereditary Thyroid Cancer, Panel Massive Sequencing (NGS) 7 Genes
Hereditary Ventricular Tachycardia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 30 genes)
Hereditary Xerocytosis Sequencing Panel
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 6 Genes
Hermansky-Pudlak Syndrome (Hermansky Pudlak Syndrom)
Hermansky-Pudlak Syndrome (Hermansky-Pudlak Syndrom)
Hermansky-Pudlak Syndrome (HPS) Deletion/Duplication Panel
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel
Hermansky-Pudlak Syndrome NGS Panel
Hermansky-Pudlak Syndrome Panel
Hermansky-Pudlak Syndrome Panel (9 Genes)
Hermansky-Pudlak Syndrome, Panel Massive Sequencing (NGS) 9 Genes
Hermansky-Pudlak Syndrome: Type 4
Heterotaxy and Situs Inversus NGS Panel
Heterotaxy Panel
Heterotaxy Syndrome, Panel Massive Sequencing (NGS) 4 Genes
Heterotaxy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes)
Heterotaxy V1 Panel
Heterotaxy V2 Panel
Heterotaxy, Situs Inversus and Kartagener's Syndrome Deletion/Duplication Panel
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel
Hexosaminidase A and B Enzyme Analysis
Hexosaminidase A Deficiency Test
HFE-Associated Hereditary Hemochromatosis Test
HHTFirst - Hereditary Hemorrhagic Telangiectasia Panel
HHTNext - Hereditary Hemorrhagic Telangiectasia Panel
High Risk Breast Cancer: Sequencing and Deletion/Duplication Panel
High Risk Colorectal Cancer: Deletion/Duplication Panel
High Risk Colorectal Cancer: Sequencing Panel
High/Moderate Risk Cancer Panel
Hirschsprung Disease (Non-syndromic) Deletion/Duplication Panel
Hirschsprung Disease (Non-syndromic) Sequencing Panel
Hirschsprung Disease NGS Panel
Hirschsprung Disease Panel
Hirschsprung Disease, Panel Massive Sequencing (NGS) 7 Genes
Histological Lipid Storage Myopathy
Histological Myofibrillar Myopathy
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy
HJV (HFE2)-Related Juvenile Hemochromatosis Test
HLA High Resolution Panel
HLA-A,B,C High Resolution
HME Tier 1
HNF4A-Related Hyperinsulinism Test
HNPCC Comprehensive Panel PLUS
HNPCC Deep Intronic
HNPCC Panel for Sequencing Plus Deletion/Duplicati
HNPCC-MSI and IHC
HNPCC/Lynch Syndrome Deletion/Duplication
Holoproscencephaly NGS Panel
Holoprosencephaly
Holoprosencephaly (deletion/duplication analysis on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes)
Holoprosencephaly (Holoprosenzephalie)
Holoprosencephaly (NGS panel of 9 genes)
Holoprosencephaly Deletion/Duplication panel
Holoprosencephaly Panel
Holoprosencephaly Panel and Del/Dup
Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes
Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes, Fetal
Holoprosencephaly Sequencing Panel
Holoprosencephaly Sequencing, 11 Genes
Holoprosencephaly Spotlight Panel
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Deletion/Duplication Panel
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel
Holoprosencephaly, NGS panel
Holoprosencephaly, Nonsyndromic, Deletion/Duplication, 11 Genes
Holoprosencephaly, Panel Massive Sequencing (NGS) 12 Genes
Holoprosencephaly, Sequencing (SHH,ZIC2,SIX3,TGIF1) Genes
Homocystinuria (Homocystinurie)
Homocystinuria Deletion/Duplication Panel
Homocystinuria Sequencing Panel
Horizon 106 (Comprehensive Jewish Panel)
Horizon 137 (Pan-Ethnic Intermediate Panel)
Horizon 27 (Pan-ethnic Standard Panel)
Horizon 274 (Pan-Ethnic Extended Panel)
Horizon 4 (SMA, CF, Fragile X, DMD)
HOXD13 - Related Brachydactyly Test
HPS1 and HPS3 Mutation Analysis (Puerto Rican)
HSD11B1 Gene Sequencing
Huntington disease (Chorea Huntington/ like)
Huntington Disease Test
HYDIN - Primary Ciliary Dyskinesia-5, CILD5
Hydrocephalus (Hydrozephalus)
Hydrocephalus, Panel Massive Sequencing (L1CAM, CCDC88C, MPDZ) Genes
Hyper IgD Syndrome Test
Hyper IgE Syndrome Deletion/Duplication Panel
Hyper IgE Syndrome Sequencing Panel
Hyper IgE Syndromes: Deletion/Duplication Panel
Hyper IgE Syndromes: Sequencing Panel
Hyper IgM Syndrome Panel, Sequencing (12 Genes) and Deletion/Duplication (10 Genes)
Hyper IgM Syndrome, Panel Massive Sequencing (NGS) 4 Genes
Hyper-IgE recurrent infection syndrome (Hyper-IgE Syndrom)
Hyper-IgE syndrome, AR (deletion/duplication analysis of DOCK8 and STAT3 genes)
Hyper-IgE Syndromes Panel
Hyper/hypoglycemia MODY+ Spotlight Panel
Hyperammonemia and Urea Cycle Disorder Panel
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
Hyperbilirubinemia (Hyperbilirubinemia)
Hyperbilirubinemia, Rotor type (sequence analysis of SLCO1B1 and SLCO1B3 gene)
Hypercalcemia (NGS panel for 9 genes)
Hypercholanemia and Bile acid synthesis defects panel
Hypercholesterolemia (Hypercholesterinämie)
Hypercholesterolemia, familial (NGS panel for 15 genes)
Hypercholesterolemia, familial (NGS panel for 3 genes)
Hypercholesterolemia: Sequencing Panel
Hyperekplexia
Hyperekplexia (Hyperekplexie)
Hyperekplexia (NGS panel for 7 genes)
Hyperekplexia Copy Number Analysis
Hyperekplexia Full Gene Sequencing Analysis Panel (5 genes)
Hyperekplexia Full Gene Sequencing Analysis Panel (5 genes) + Copy Number Analysis
Hyperekplexia NGS Panel
Hyperekplexia Panel
Hyperferritinemia Cataract Syndrome Test (FTL gene)
Hyperglycinuria/Iminoglycinuria, Panel Massive Sequencing (NGS) SLC36A2, SLC6A19, SLC6A20 Genes
Hyperinsulinemic Hypoglycemia, Acute
Hyperinsulinism NGS Panel
Hyperinsulinism, familial Test
Hyperinsulinism-Hyperammonemia Syndrome, Panel Massive Sequencing (NGS) 12 Genes
Hyperlipidemia Core Panel
Hyperlipidemia Panel
Hypermethioninemia Sequencing Panel
Hyperoxaluria (Hyperoxalurie)
Hyperoxaluria Panel
Hyperparathyroidism Panel
Hyperparathyroidism Spotlight Panel
Hyperphenylalaninemia Panel
Hyperphenylalaninemia Deletion/Duplication Panel
Hyperphenylalaninemia Full Gene Sequencing Analysis Panel (5 genes)
Hyperphenylalaninemia Panel
Hyperphenylalaninemia Sequencing Panel
Hyperphosphatemic Familial Tumoral Calcinosis
Hyperprolinemia Panel
Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy (HCM) Gene Set
Hypertrophic Cardiomyopathy (HCM) Panel
Hypertrophic cardiomyopathy (sequence analysis of MYH7,MYBPC3,TNNT2,TNNI3 and TPM1 genes)
Hypertrophic cardiomyopathy (sequence analysis of the exons 13, 16 and 23 of MYH7 gene, exons 17, 24, 25 and 29 of MYBPC3 gene, exons 9, 14 and 16 of TNNT2 gene and exons 7 and 8 of TNNI3 gene )
Hypertrophic cardiomyopathy - 10 genes (HCM, NGS panel for ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, TCAP, TNNI3, TNNT2 and TPM1 genes)
Hypertrophic cardiomyopathy - 22 genes (HCM, NGS panel for ACTC1, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN and VCL genes)
Hypertrophic Cardiomyopathy Deletion/Duplication Panel
Hypertrophic Cardiomyopathy Multi-Gene Panel, Blood
Hypertrophic Cardiomyopathy NGS Panel
Hypertrophic Cardiomyopathy Panel
Hypertrophic Cardiomyopathy Panel (20 Genes)
Hypertrophic Cardiomyopathy Sequencing Panel
Hypertrophic Cardiomyopathy Test
Hypertrophic Cardiomyopathy: Deletion/Duplication Panel
Hypertrophic Cardiomyopathy: Sequencing Panel
Hypertropic Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Hyperuricemic nephropathy, NGS panel
Hypo-/Hyperkalemic periodic paralysis (Hypo/hyper-kaliämische periodische Paralyse)
Hypo-/Hyperparathyroidism (Hypo-/Hyperparathyreoidismus)
Hypochondroplasia Test
Hypochromic Microcytic Anemia with Iron Overload Test (SLC11A2 gene)
Hypoglycemia Panel Sequence Analysis
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel
Hypogonadotropic Hypogonadism Sequencing Panel
Hypogonadtrophic Hypogonadism/Kallmann Syndrome Panel
Hypohidrotic Ectodermal Dysplasia , Panel Massive Sequencing (NGS) EDA,EDAR and EDARADD Genes
Hypohidrotic Ectodermal Dysplasia Deletion/Duplication, 3 Genes
Hypohidrotic Ectodermal Dysplasia Panel, Sequencing and Deletion/Duplication, 4 Genes
Hypohidrotic Ectodermal Dysplasia Panel, Sequencing, 4 Genes
Hypohidrotic Ectodermal Dysplasia, Deletions-Duplications (MLPA) EDA, EDAR,EDARADD Genes
Hypohidrotic Ectodermal Dysplasia: Deletion/Duplication Panel
Hypohidrotic Ectodermal Dysplasia: Sequencing Panel
Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes)
Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (sequence analysis of CACNA1S and SCN4A genes)
Hypokalemic Periodic Paralysis , Panel Massive Sequencing CACNA1S,SCN4A Genes
Hypokalemic Periodic Paralysis , Sequencing Exons (11,30) CACNA1S Gene and Exon 12 SCN4A Gene
Hypokalemic Periodic Paralysis Type 1 Test
Hypokalemic Periodic Paralysis Type 2 Test
Hypomagnesemia Deletion/Duplication Panel
Hypomagnesemia Panel
Hypomagnesemia Sequencing Panel
Hypoparathyroidism Deletion/Duplication Panel
Hypoparathyroidism Sequencing Panel
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel
Hypophosphatemic Rickets (Rachitis/ Hypophosphatesia)
Hypophosphatemic Rickets Panel
Hypophosphatemic Rickets, Autosomal Dominant Test, FGF23
Hypophosphatemic Rickets, Autosomal Recessive 1, DMP1
Hypophosphatemic Rickets, Panel Massive Sequencing (NGS) 7 Genes
Hypospadias Sequencing Panel
Hypothyroidism (NextGen Sequencing Panel and Copy Number Analysis; 6 Genes)
Hypothyroidism and Resistance to Thyroid Hormone Panel
Hypotricosis, Panel Massive Sequencing (NGS) 8 Genes
Hypoventilation Syndrome NGS Panel
 

I 

Ichthyoses and Related Disorders of Cornification Panel
Ichthyosis (Congenital)
Ichthyosis Del/Dup panel - Nonsyndromic
Ichthyosis NGS panel - Nonsyndromic
Ichthyosis NGS panel - Nonsyndromic
Ichthyosis Panel
IDH1 and IDH2 mutation analysis of gliomas
Idiopathic Aplastic Anemia, Panel Massive Sequencing (NGS) 6 Genes
Idiopathic Generalized and Focal Epilepsy Panel
Idiopathic Generalized Epilepsy Panel
Idiopathic Pulmonary Fibrosis
IDNext - Intellectual Disability Panel
iGene Cancer Panel
iGene Cardiac Panel
iGene Comprehensive Panel (Cancer, Cardiac, Drug Sensitivity)
iGene Pharmacogenetics
IGFALS - GH insensitivity
IL12RB1 Gene Sequencing
Immune Dysregulation Panel
Immunodeficiencies affecting cellular and humoral immunity – CID (NGS panel of 33 genes)
Immunodeficiencies affecting cellular and humoral immunity – SCID (NGS panel of 15 genes)
Immunodeficiencies affecting cellular and humoral immunity – SCID and CID (NGS panel of 48 genes)
Immunohistochemistry - Mismatch Repair Proteins
Impairment of the organo-morphogensis
Impairment of the transport in hepatocytes and cholangiocytes panel
Infancy: Cardiomyopathies
Infantile Epilepsy Panel
Infantile Myofibromatosis Sequencing Panel
Infantile Spasms Spotlight Panel
Infertility Panel: Female
Infertility Panel: Male
Inflammatory Bowel Disease (IBD) and Related Disorders, Panel Massive Sequencing (NGS) 56 Genes
Inflammatory Bowel Disease: Sequencing Panel
Informed Pregnancy Screen
Inherited Bone Marrow Failure Deletion/Duplication Panel
Inherited Bone Marrow Failure Panel
Inherited Bone Marrow Failure Sequencing Panel
Inherited Bone Marrow Failure Syndromes NGS Panel
Inherited Cancer Screen
Inherited Disease Panel
Inherited Metabolic Disorders: Deletion/Duplication Panel
Inherited Metabolic Disorders: Sequencing Panel
Inherited Neutropenia Deletion/Duplication Panel
Inherited Neutropenia Panel
Inheritest Carrier Screen
Inheritest NGS, Ashkenazi Jewish Ancestry Panel
Inheritest NGS, Comprehensive
Inheritest NGS, Society Guided Panel
Inheritest Select Carrier Screen
Inosine Triphosphatase (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs
Insulin-like growth factor I deficiency and Insulin-like growth factor I, resistance to
Integrated BRACAnalysis
Intellectual Disability NGS Panel
Interstitial Lung Disease Panel
Interstitial Lung Disease: Deletion/Duplication Panel
Interstitial Lung Disease: Sequencing Panel
Invitae 3-Methylcrotonyl-CoA Carboxylase Panel
Invitae Alagille Syndrome Panel
Invitae Androgen Insensitivity Panel
Invitae Aortopathy Comprehensive Panel
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel
Invitae Arrhythmia Comprehensive Panel
Invitae Arrhythmogenic Cardiomyopathy Panel
Invitae Autophagic Vacuolar Myopathy Panel
Invitae Axenfeld-Rieger Panel
Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel
Invitae Bardet-Biedl Syndrome Panel
Invitae Basal Cell Nevus Syndrome Panel
Invitae Bone Marrow Failure Syndromes Panel
Invitae Branchiootorenal Spectrum Disorders Panel
Invitae BRCA1 and BRCA2 STAT Panel
Invitae Breast and Gyn Cancers Guidelines-Based Panel
Invitae Breast and Gyn Cancers Panel
Invitae Breast Cancer Guidelines-Based Panel
Invitae Breast Cancer Panel
Invitae Breast Cancer STAT Panel
Invitae Brugada Syndrome Panel
Invitae Cardio-Facio-Cutaneous Syndrome Panel
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel
Invitae Cardiomyopathy Comprehensive Panel
Invitae Carpenter Syndrome Panel
Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Invitae Centronuclear Myopathy Panel
Invitae Cerebral Cavernous Malformations Panel
Invitae Cerebral Creatine Deficiency Panel
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
Invitae Charcot-Marie-Tooth Disease X-linked Panel
Invitae Chronic Pancreatitis Panel
Invitae Ciliopathies Panel
Invitae Colorectal Cancer Guidelines-Based Panel
Invitae Colorectal Cancer Panel
Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI)
Invitae Comprehensive Muscular Dystrophy Panel
Invitae Comprehensive Myopathy Panel
Invitae Comprehensive Neuromuscular Disorders Panel
Invitae Comprehensive Neuropathies Panel
Invitae Congenital Cataracts Panel
Invitae Congenital Disorders of Glycosylation Panel
Invitae Congenital Fiber-Type Disproportion Panel
Invitae Congenital Heart Defects and Heterotaxy Panel
Invitae Congenital Heart Disease Panel
Invitae Congenital Muscular Dystrophy Panel
Invitae Congenital Myasthenic Syndrome Panel
Invitae Congenital Myopathy Panel
Invitae Constitutional Mismatch Repair-Deficiency Panel
Invitae Cornelia de Lange Syndrome Panel
Invitae Craniosynostosis Panel
Invitae Diamond-Blackfan Anemia Panel
Invitae Dilated Cardiomyopathy Panel
Invitae Disorders of Male Sex Development Panel
Invitae Distal Myopathy Panel
Invitae Dyskeratosis Congenita Panel
Invitae Dystonia Comprehensive Panel
Invitae Dystroglycanopathy Panel
Invitae Early Infantile Epileptic Encephalopathy Panel
Invitae Early-Onset Glaucoma Panel
Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel
Invitae Ehlers-Danlos Syndrome Panel
Invitae Elevated C16, C16:1, C18, and C18:1 Panel
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel
Invitae Elevated C3 Panel
Invitae Elevated C4 and C5 Panel
Invitae Elevated C4 Panel
Invitae Elevated C5 Panel
Invitae Elevated C5-OH Panel
Invitae Elevated Citrulline Panel
Invitae Elevated Leucine Panel
Invitae Elevated Phenylalanine Panel
Invitae Elevated Proline Panel
Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel
Invitae Emery-Dreifuss Muscular Dystrophy Panel
Invitae Epilepsy Panel
Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel
Invitae Familial Hypercholesterolemia Panel
Invitae Familial Neuroblastoma Panel
Invitae Fanconi Anemia Panel
Invitae Fatty Acid Oxidation Defects Panel
Invitae Galactosemia Panel
Invitae Gastric Cancer Panel
Invitae Glycine Encephalopathy Panel
Invitae Hereditary Breast and Ovarian Cancer Syndrome Panel
Invitae Hereditary Hemochromatosis Panel
Invitae Hereditary Hemorrhagic Telangiectasia Panel
Invitae Hereditary Motor Neuropathy Panel
Invitae Hereditary Multiple Osteochondromas Panel
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel
Invitae Hereditary Sensory and Autonomic Neuropathy Panel
Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel
Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel
Invitae Hereditary Spastic Paraplegia Comprehensive Panel
Invitae Hereditary Spastic Paraplegia X-linked Panel
Invitae Hereditary Thrombophilia Panel
Invitae Holoprosencephaly Panel
Invitae Homocystinuria Panel
Invitae Hyperparathyroidism Panel
Invitae Hyperphenylalaninemia Panel
Invitae Hyperprolinemia Panel
Invitae Hypertrophic Cardiomyopathy Panel
Invitae Hypokalemic Periodic Paralysis Panel
Invitae Inclusion Body Myopathy Panel
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel
Invitae Joubert and Meckel-Gruber Syndromes Panel
Invitae Juvenile Polyposis Syndrome Panel
Invitae Kabuki Syndrome Panel
Invitae Leber Congenital Amaurosis Panel
Invitae Left Ventricular Noncompaction Panel
Invitae Limb-Girdle Muscular Dystrophy Panel
Invitae Loeys-Dietz Syndrome Panel
Invitae Long QT Syndrome Panel
Invitae Lynch Syndrome Panel
Invitae Malignant Hyperthermia Susceptibility Panel
Invitae Maple Syrup Urine Disease Panel
Invitae Melanoma Panel
Invitae Melanoma-Pancreatic Cancer Syndrome Panel
Invitae Metabolic Disorders Newborn Screening Confirmation Panel
Invitae Methylmalonic Acidemia Panel
Invitae Microphthalmia/Anophthalmia Disorders Panel
Invitae Multi-Cancer Panel
Invitae Multiple Acyl-coA Dehydrogenase Deficiency Panel
Invitae Multiple Carboxylase Deficiency Panel
Invitae Myelodysplastic Syndrome/Leukemia Panel
Invitae Myofibrillar Myopathy Panel
Invitae Nemaline Myopathy Panel
Invitae Nephronophthisis Panel
Invitae Nervous System/Brain Cancer Panel
Invitae Neurodegeneration with Brain Iron Accumulation Panel
Invitae Neuronal Ceroid Lipofuscinoses Panel
Invitae Niemann-Pick Type C Panel
Invitae Noonan Syndrome Panel
Invitae Noonan Syndrome with Multiple Lentigines Panel
Invitae Organic Acidemias Panel
Invitae Osteogenesis Imperfecta Panel
Invitae Overgrowth and Macrocephaly Syndromes Panel
Invitae Pancreatic Cancer Panel
Invitae Pediatric Hematologic Malignancies Panel
Invitae Pediatric Nervous System/Brain Tumors Panel
Invitae Pediatric Solid Tumors Panel
Invitae Periodic Fever Syndromes Panel
Invitae Polycystic Kidney Disease Type 2 Panel
Invitae Primary Ciliary Dyskinesia Panel
Invitae Propionic Acidemia Panel
Invitae Prostate Cancer Panel
Invitae Pulmonary Arterial Hypertension Panel
Invitae RASopathies Comprehensive Panel
Invitae Renal/Urinary Tract Cancers Panel
Invitae Rett and Angelman Syndromes and Related Disorders Panel
Invitae Rhabdoid Tumor Predisposition Syndrome Panel
Invitae Riboflavin Transporter Deficiency Neuronopathy Panel
Invitae Rubinstein-Taybi Syndrome Panel
Invitae Sarcoma Panel
Invitae Senior-Loken Syndrome Panel
Invitae Severe Combined Immunodeficiency Panel
Invitae Short QT Syndrome Panel
Invitae Skeletal Ciliopathies Panel
Invitae Small Fiber Neuropathy Test
Invitae Thyroid Cancer Panel
Invitae Trichorhinophalangeal Syndrome Panel
Invitae Tuberous Sclerosis Complex Panel
Invitae Type VI Collagenopathy Panel
Invitae Urea Cycle Disorders Panel
Invitae van der Woude Syndrome Panel
Invitae WAGR Syndrome Test
Invitae Wilms Tumor Panel
Ion Channel Disorders Panel
IRF6 - van der Woude Syndrome
Iron Overload, Autosomal Dominant Test (FTH1 gene)
Iron-Refractory Iron Deficiency Anemia Test (TMPRSS6)
Isolated Aniridia Test
Isolated Growth Hormone Deficiency NGS Panel
Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes)
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel
Isolated Polycystic Liver Disease (PCLD) Deletion/Duplication Panel
Isolated Polycystic Liver Disease (PCLD) Sequencing Panel
Isolated X-Linked Adrenal Hypoplasia Congenita Test
 

J 

Jackson-Weiss Syndrome Panel
Jaundice Deletion/Duplication Panel
Jaundice Panel
Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen Syndrome NGS Panel
Jervell and Lange-Nielson Syndrome
Joubert and Meckel NGS Panel
Joubert and Meckel-Gruber Syndromes Deletion/Duplication Panel
Joubert and Meckel-Gruber Syndromes Sequencing Panel
Joubert Syndrome
Joubert syndrome (Joubert Syndrom)
Joubert Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes)
Joubert syndrome - 11 genes (NGS panel for AHI1, ARL13B, CC2D2A, CEP290, KIF7, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216 and TMEM67 genes)
Joubert Syndrome and Related Disorders Multi-Gene Panels
Joubert syndrome and related disorders NGS panel
Joubert syndrome and related disorders NGS panel Comprehensive Test
Joubert Syndrome and Related Disorders Panel
Joubert Syndrome NGS Panel
Joubert Syndrome Panel
Joubert Syndrome Spotlight Panel
Joubert Syndrome, Panel Massive Sequencing (NGS) 13 Genes
Joubert Syndrome: Deletion/Duplication Panel
Joubert Syndrome: Sequencing Panel
Joubert/Meckel Gruber syndrome Deletion / Duplication Panel
Joubert/Meckel Gruber syndrome Sequencing Panel
JPS Del/Dup Analysis
JPS Tier 1
Junctional Epidermolysis Bullosa (JEB) Deletion/Duplication Panel
Junctional Epidermolysis Bullosa (JEB) Sanger Sequencing Panel
Juvenile Myelomonocytic Leukemia (JMML)
Juvenile polyposis syndrome (BMPR1A and SMAD4 Gene Sequence and Deletion/Duplication Analysis)
 

K 

Kabuki Syndrome
Kabuki Syndrome Deletion/Duplication Panel
Kabuki Syndrome Panel
Kabuki Syndrome Sequencing Panel
Kabuki syndrome test
Kabuki Syndrome, Panel Massive Sequencing (NGS) KMT2D and KDM6A Genes
Kabuki Syndrome: KMT2D and KDM6A Deletion/Duplication Panel
Kabuki Syndrome: KMT2D and KDM6A Gene Sequencing and Deletion/Duplication Panel
Kabuki Syndrome: KMT2D and KDM6A Sequencing Panel
Kallmann Syndrome
Kallmann Syndrome 2 Test
Kallmann Syndrome 3 Test
Kallmann Syndrome 4 Test
Kallmann Syndrome 5 Test
Kallmann Syndrome 6 Test
Kallmann Syndrome Deletion/Duplication Panel
Kallmann Syndrome NGS Panel
Kallmann Syndrome Panel
Kallmann Syndrome Sequencing Panel
Kallmann Syndrome, Panel Massive Sequencing (NGS) 20 Genes
Kallmann syndrome/ Hypogonadotropic hypogonadism (Kallmann Syndrom)
Kartagener's Syndrome/Heterotaxy with Chronic Respiratory Infections NGS Panel
KCNJ11-Related Hyperinsulinism Test
Kenny-Caffey Syndrome Deletion/Duplication Panel
Kenny-Caffey Syndrome Sequencing Panel
Kenny-Caffey syndrome, type 1 / 2 (KCS1 / KCS2)
Ketone Body Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 5 genes)
Kidney Diseases Panel
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
Klippel-Feil syndrome NGS panel
Klippel-Feil Syndrome, Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes
Krabbe Disease Test
KRT1, KRT10 Hot Spots
KRT4, KRT13 Hot Spots
KRT5/14 Hot Spots
KRT6A, KRT16 Hot Spots
KRT6B, KRT17 Hot Spots
 

L 

Lacrimoauriculodentodigital Syndrome (LADD), Panel Massive Sequencing (NGS) FGF10, FGFR2, FGFR3 Genes
Lactic Acidosis-Pyruvate NGS Panel
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8)
Lactose Intolerance, Adult Type Test
LADD syndrome / ALSG syndrome
LAM5 Hot Spots
Laron dwarfism (Laron Syndrom)
Larsen syndrome (Larsen Syndrom)
Larsen Syndrome and Related Disorders, Panel Massive Sequencing (NGS) 5 Genes
LCA Tier 1
LCHAD deficiency test
Leber Congenital Amaurosis
Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP2909 genes)
Leber congenital amaurosis (Lebersche kongenitale Amaurose)
Leber congenital amaurosis - 19 genes (NGS panel for AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7 and TULP1 genes)
Leber Congenital Amaurosis Deletion/Duplication Panel
Leber Congenital Amaurosis Panel
Leber Congenital Amaurosis Sequencing Panel
Leber congenital amaurosis, NGS panel
Leber Congenital Amaurosis, Panel Massive Sequencing (NGS) 17 Genes
Leber Congenital Amaurosis: Deletion/Duplication Panel
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel
Leber Congenital Amaurosis: Sequencing Panel
Leber hereditary optic neuropathy
Leber Hereditary Optic Neuropathy (LHON), Mutations (G3460A, G11778A, T14484C) Mitochondrial DNA
Leber Hereditary Optic Neuropathy Test
Leber Hereditary Optic Neuropathy Test (LHON) - analysis of three mutations in mtDNA.
Leber Optic Atrophy (Lebersche Optikusatrophie)
Left Ventricular Noncompaction (LVNC) Deletion/Duplication panel
Left Ventricular Noncompaction (LVNC) Gene Set
Left Ventricular Noncompaction (LVNC) Sequencing Panel
Left ventricular noncompaction (LVNC, NGS panel for ACTC1, CSRP3, DTNA, LDB3, LMNA, MYBPC3, MYH7, PLN, SGCD, TAZ, TCAP, TNNT2 and TPM1 genes)
Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel
Left Ventricular Noncompaction Cardiomyopathy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 8 genes)
Left Ventricular Noncompaction NGS Panel
Left Ventricular Noncompaction Panel
Left Ventricular Noncompaction, Panel Massive Sequencing (NGS) 7 Genes
Leigh Disease (NextGen Sequencing Panel and Copy Number Analysis; 75 genes + mtDNA)
Leigh Syndrome
Leigh syndrome (Leigh Syndrom)
Leigh Syndrome (nuclear DNA mutation) Test
Leigh Syndrome Spotlight Panel
Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
LEOPARD syndrome (LEOPARD Syndrom)
LEOPARD Syndrome 1 Test
LEOPARD Syndrome, Panel Massive Sequencing (NGS) PTPN11, RAF1, BRAF Genes
Leukocyte adhesion deficiency (Leukozytenadhäsionsdefizienz)
Leukodystrophies, Panel Massive Sequencing (NGS) 58 genes
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
Leukodystrophy / Leukencephalopathy Panel
Leukodystrophy / Leukoencephalopathy Panel
Leukodystrophy and Leukoencephalopathy Panel
Leukodystrophy hypomyelinating (NGS panel for 3 genes)
Leukodystrophy panel
Leukodystrophy, hypomyelinating (Hypomyelinisierende Leukodystrophie)
Leukoencephalopathy (Leukenzephalopathie)
Leukoencephalopathy NGS Panel
Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes)
Leukoencephalopathy with Vanishing White Matter , Panel Sequencing (EIF2B1, EIFB5, EIFB2, EIFB3, EIFB4) Genes
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Deletion/Duplication Panel
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel
LGMD and Congenital Muscular Dystrophy Panel
LHON test
Li-Fraumeni Syndrome Test
Liddle Syndrome
LIG4 Syndrome and LIG4 Syndrome like
Limb Girdle Muscular Dystrophy Del/Dup Panel
Limb Girdle Muscular Dystrophy Sequencing Panel
Limb Malformation: Deletion/Duplication Panel
Limb Malformation: Sequencing Panel
Limb-girdle muscular dystrophies (NGS panel for 26 genes)
Limb-Girdle Muscular Dystrophies Panel
Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy (deletions/duplications of SGCA, SG
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Limb-Girdle Muscular Dystrophy + DMD; NGS Panel; 22 Genes
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel
Limb-Girdle Muscular Dystrophy NGS Panel
Limb-Girdle Muscular Dystrophy Panel
Limb-Girdle Muscular Dystrophy, A.D.
Limb-Girdle Muscular Dystrophy, A.R.
Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 22 Genes
Limb-Girdle Muscular Dystrophy: Deletion/Duplication Panel
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
Limb-Girdle Muscular Dystrophy: Sequencing Panel
Lipid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 71 genes + mtDNA)
Lipid Myopathies, Panel Massive Sequencing (NGS) 6 Genes
Lipodystrophy (Lipodystrophie)
Lipodystrophy NGS Panel
Lipodystrophy Related Disorders, Panel Massive Sequencing (NGS) 10 Genes
Lissencephaly
Lissencephaly (NGS panel for 12 genes)
Lissencephaly NGS Panel
Lissencephaly Panel
Lissencephaly Spotlight Panel
Lissencephaly, Deletions-Duplication (MLPA) (PAFAH1B1, POMT1, POMGnT1, DCX and FLNA) Genes
Lissencephaly, Panel Massive Sequencing (NGS) 8 Genes
Lissencephaly/ Miller-Dieker syndrome (Lissenzephalie/Miller-Dieker Syndrom)
Loeys-Dietz Syndrome
Loeys-Dietz syndrome (deletion/duplication analysis on TGFBR1 and TGFBR2 genes)
Loeys-Dietz syndrome (Loeys-Dietz Syndrom)
Loeys-Dietz syndrome (sequence analysis of TGFBR1 and TGFBR2 genes)
Loeys-Dietz Syndrome (TGFBR1 and TGFBR2) Sequencing
Loeys-Dietz Syndrome (types 1 and 2)
Loeys-Dietz syndrome 1 / 2 (LDS1 / LDS2)
Loeys-Dietz Syndrome Deletion/Duplication Panel
Loeys-Dietz syndrome Deletions/Duplications
Loeys-Dietz syndrome NGS panel
Loeys-Dietz Syndrome Panel
Loeys-Dietz Syndrome Sequencing Panel
Loeys-Dietz Syndrome Test
Loeys-Dietz Syndrome Test (the TGFBR1 and TGFBR2 genes-selected fragments/the most common mutations)
Loeys-Dietz Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Long and Short QT Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 17 genes)
Long and Short QT Syndrome: Deletion/Duplication Panel
Long and Short QT Syndrome: Sequencing Panel
Long and Short QT Syndromes: Sequencing Panel
Long QT Syndrome
Long QT syndrome (Long QT Syndrom)
Long QT Syndrome (LQT) Multi-Gene Panel
Long QT Syndrome (LQTS)
Long QT Syndrome (LQTS) Gene Set
Long QT Syndrome (LQTS) Panel
Long QT syndrome (NGS panel for 14 genes)
Long QT Syndrome , Panel Massive Sequencing (NGS) 11 Genes
Long QT Syndrome 1 Test
Long QT Syndrome Deletion/Duplication Panel
Long QT Syndrome Multi-Gene Panel, Blood
Long QT Syndrome Multi-Gene Panels
Long QT Syndrome NGS Panel
Long QT Syndrome Panel
Long QT Syndrome Sequencing Panel
Long QT Syndrome Types 5 and 6, Sequencing (KCNE1,KCNE2) Genes
Long QT Syndrome, Deletions-Duplications (MLPA) KCNQ1, KCNH2, KCNE1, KCNE2 Genes
Long QT Syndrome, Multi-Gene Panel (5 genes)
Long QT Syndrome: KCNQ1, KCNH2, SCN5A genes
LQTS Del/Dup Panel
LQTS Gene Sequencing and Del/Dup Panel
LQTS Sequencing Panel
LRPPRC Sequence analysis
LRRC6 - Primary Ciliary Dyskinesia, CILD19
LRRK2-Related Parkinson Disease Test-TARGET
Lung cancer
Lung Cancer Test (genetic predisposition) - panel (NOD2, P16, p53 - one mutation, CYP1B1)
Lung Disorders NGS Panel
LVNCNext - Left Ventricular Non-Compaction Panel
Lymphedema Deletion/Duplication Panel
Lymphedema Sequencing Panel
Lymphedema-Lethal Restrictive Dermopathy, Panel Massive Sequencing (NGS) 9 Genes
Lynch Syndrome
Lynch Syndrome (HNPCC), MLH1, MSH2, and MSH6 Sequencing Panel
Lynch Syndrome Concurrent: Gene sequence and deletion/duplication analyses of MLH1, MSH2, MSH6, and PMS2 plus EPCAM deletion/duplication and MSH2 inversion analyses
Lynch Syndrome Deletions/Duplications and Sequencing
Lynch Syndrome Panel
Lynch Syndrome Sequencing and Deletion/Duplication Panel
Lynch Syndrome: Immunohistochemistry - MLH1, MSH2, MSH6, and PMS2 Panel
Lynch Syndrome: Immunohistochemistry – MLH1, MSH2, MSH6, and PMS2 Panel
Lynch Syndrome: Microsatellite Instability
Lynch Syndrome: Microsatellite Instability and Immunohistochemistry
Lynch Syndrome: MLH1, MSH2, and MSH6 Gene Deletion/Duplication Panel
Lynch Syndrome: MLH1, MSH2, and MSH6 Gene Sequencing Panel
Lynch Syndrome: MLH1, MSH2, and MSH6 Gene Deletion/Duplication Panel
Lynch Syndrome: MLH1, MSH2, and MSH6 Gene Sequencing Panel
Lynch Syndrome: MLH1, MSH2, MSH6, and EPCAM Sequencing and Deletion/Duplication Panel
Lynch Syndrome: MLH1, MSH2, MSH6, and PMS2 Gene Sequencing Panel
Lynch Syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM Sequencing and
Lynch/Colorectal High Risk Panel
LysoSEEK - Lysosomal Storage Disease Panel
Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes)
Lysosomal Disorders and Mucopolysaccharidosis Panel
Lysosomal Disorders NGS Panel
Lysosomal Disorders Panel
Lysosomal Storage Disease Panel
Lysosomal storage disorders panels
Lysosomal Storage Disorders: Deletion/Duplication Panel
Lysosomal Storage Disorders: Sequencing Panel
 

M 

Mabry Syndrome: Sequencing Panel
Macrocephaly
Macrocephaly (NGS panel for 16 genes)
Macrocephaly / Overgrowth Syndrome Panel
Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 15 Genes)
Macrocephaly Deletion/Duplication panel
Macrocephaly Panel
Macrocephaly Sequencing Panel
Macrocephaly, Panel Massive Sequencing (NGS) 16 Genes
Macrocephaly: Deletion/Duplication Panel
Macrocephaly: Sequencing Panel
Macula Risk
Macular Degeneration NGS Panel
Macular Degeneration Related Disorders, Panel Massive Sequencing (NGS) 20 Genes
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel
Macular Dystrophy Panel
Macular Dystrophy/Degeneration/Stargardt Disease: Deletion/Duplication Panel
Macular Dystrophy/Degeneration/Stargardt Disease: Sequencing Panel
MADD Panel Del/Dup Analysis
MADD Panel Sequence and Del/Dup Analysis
Maffucci Syndrome Gene Set
Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) (LPL, APOA5,APOC2,LIPI,GPIHBP1,LMF1) Genes
Male Infertility Test
Malformations of Cortical Development
Malformations of Cortical Development, Panel Massive Sequencing (NGS) 39 Genes
Malignant hyperthermia (Maligne Hyperthermie)
Malignant Hyperthermia (NextGen Sequencing Panel and Copy Number Analysis; 2 Genes)
Malignant Hyperthermia Panel
Malignant Hyperthermia Susceptibility
Malignant Hyperthermia Susceptibility Deletion/Duplication Panel
Malignant Hyperthermia Susceptibility Sequencing Panel
Malignant Hyperthermia, Panel Massive Sequencing (NGS) RYR1 and CACNA1S Genes
Malignant Migrating Partial Seizures of Infancy
MAMMA GeneProfile: NGS and screening of deletions / duplications in the BRCA1 and BRCA2 genes. Sanger sequencing confirmation of pathological variants and MLPA confirmation of genomic rearrangements previously detected.
MAMMA GeneProfile: NGS in the the BRCA1 and BRCA2 gene.
Mandibuloacral Dysplasia
MAOA and other neurotransmitters
MAP2K1/MAP2K2 Gene Sequencing
Maple Syrup Urine Disease
Maple Syrup Urine Disease (Ahornsirupkrankheit)
Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Deletion/Duplication
Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Sequencing
Maple Syrup Urine Disease (NextGen Sequencing Panel and Copy Number Analysis; 4 Genes)
Maple syrup urine disease - 3 genes (NGS panel for BCKDHA, BCKDHB and DBT genes)
Maple Syrup Urine Disease Deletion/Duplication Panel
Maple Syrup Urine Disease NGS Panel
Maple Syrup Urine Disease Sequencing Panel
Maple Syrup Urine disease test
Maple Syrup Urine Disease, Panel Massive Sequencing (NGS) 4 Genes
Marfan and Loeys-Dietz syndromes (NGS panel of 3 genes)
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes)
Marfan and Marfan like panel
Marfan and Marfan-like Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 genes)
Marfan and Related Aortopathies (aka TAAD)
Marfan Panel
Marfan Syndrome
Marfan Syndrome , Panel Massive Sequencing (NGS) 4 Genes
Marfan syndrome and Loeys-Dietz syndrome 1 / 2 NGS panel
Marfan Syndrome and MFS Related Disorders Panel
Marfan Syndrome and Related Aortopathies Deletion/Duplication Panel
Marfan Syndrome and Related Aortopathies Sequencing Panel
Marfan Syndrome and Related Disorders
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes
Marfan Syndrome and Related Disorders Multi-Gene Panel, Blood
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel
Marfan Syndrome Deletion/Duplication Panel
Marfan Syndrome NGS Panel
Marfan Syndrome Test
Marfan syndrome type 2 (sequence analysis of TGFBR1 and TGFBR2 genes)
Marfan Syndrome, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysms and Dissections, and Related Disorders NGS Panel
Marfan Syndrome, Thoracic Aortic Aneurysm and Dissection (TAAD), and Related Disorders: Deletion/Duplication Panel
Marfan Syndrome, Thoracic Aortic Aneurysm and Dissection (TAAD), and Related Disorders: Sequencing Panel
Marfan syndrome, type I / II NGS panel
Marfan Syndrome/ Loeys-Dietz Syndrome/ Familial Thoracic Aortic Aneurysms and Dissections Multi-Gene Panel
Marfan Syndrome/TAAD Del/Dup Panel
Marfan Syndrome/TAAD Sequencing Panel
Marfan Syndrome|Loeys-Dietz Syndrome|Familial Thoracic Aortic Aneurysms and Dissections
Marfan/TAAD Sequencing and Del/Dup Panel
Marinesco-Sjogren Syndrome (Marinesco-Sjögren Syndrom)
Maturity Onset Diabetes of the Young (MODY) Deletion/Duplication Panel
Maturity Onset Diabetes of the Young (MODY) Sequencing Panel
Maturity Onset Diabetes of the Young (MODY): Deletion/Duplication Panel
Maturity Onset Diabetes of the Young (MODY): Sequencing Panel
Maturity-Onset Diabetes of the Young
Maturity-Onset Diabetes of the Young (MODY) Panel
Maturity-Onset Diabetes of the Young Multi-Gene Panel
Maturity-Onset Diabetes of the Young Panel Test
Maturity-Onset Diabetes of the Young Type 1 Test
Maturity-Onset Diabetes of the Young Type 2 Test
Maturity-Onset Diabetes of the Young Type 3 Test
Maturity-Onset Diabetes of the Young Type 8 with exocrine dysfunction Test
MCIDAS - mucociliary clearance disorder
McLeod Neuroacanthocytosis Syndrome Test
Meckel Gruber syndrome Deletion / Duplication panel
Meckel Gruber syndrome Sequencing panel
Meckel syndrome (Meckel Syndrom)
Meckel Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)
Meckel syndrome (NGS panel for 11 genes)
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes
Meckel Syndrome Panel
MECP-Related Disorders Test
MECP2-Related Disorders Test
Medullary cystic kidney disease (Medulläre Nierenzysten)
Medullary Thyroid Carcinoma Test - MEN2A, MEN2B (the RET gene - exons 10, 11, 16, 13, 14, 15)
Megalencephalic Leukencephalopathy with Subcortical Cysts Test
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel
Megalencephaly
Megaloblastic Anemia and Related Disorders, Panel Massive Sequencing (NGS) 5 Genes
Meier-Gorlin Syndrome
Meier-Gorlin Syndrome Deletion / Duplication Panel
Meier-Gorlin Syndrome Deletion/Duplication Panel
Meier-Gorlin Syndrome NGS Panel
Meier-Gorlin Syndrome Panel
Meier-Gorlin Syndrome Sequencing Panel
Meier-Gorlin Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Melanoma (Melanom)
Melanoma (methylation and deletion/duplication analysis of CDKN2A and CDKN2B genes, sample of tumoral tissue)
Melanoma Cancer Comprehensive Panel
Melanoma Gene Set
Melanoma Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 6 Genes
Melanoma: Deletion/Duplication Panel
Melanoma: Sequencing Panel
MelanomaNext
Melaris
MELAS syndrome (MELAS)
MELAS syndrome (sequence analysis of MT-TL1 and MT-ND5 (m.13513G>A) genes)
MELAS test
Membranoproliferative Glomerulonephritis
Meningiomatosis/ Multiple Meningioma NGS Panel
Mental Health DNA Insight
Mental retardation, unspecific (Mentale Retardierung, unspezifisch )
Mental Retardation, X-linked (Mentale Retardierung X-chromosomal)
Mental retardation, X-linked (NGS panel for 89 genes)
Metabolic Diseases Panel
Metabolic disorders of hepatocytes, including Tyrosinemia, Glycogen storage diseases, Hyperammonemia, Shwachman- Diamond syndrome, Disorder of fatty acid oxidations and Peroxisomal diseases
Metabolic Epilepsy Panel
Metabolic Hypoglycemia Deletion/Duplication Panel
Metabolic Hypoglycemia Sequencing Panel
Metabolic Myopathies Panel
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis
Metabolic Myopathy and Rhabdomyolysis Panel
Metabolic Myopathy, Panel Massive Sequencing (NGS) 26 Genes
Metabolic or Syndromic Neuropathies
Metabolic Storage Disorders Panel Sequencing, 51 Genes
MetaboSeq Fatty Acid Oxidation Disorders Deletion/Duplication Panel
MetaboSeq Fatty Acid Oxidation Disorders Panel
Metachromatic Leukodystrophy (Metachromatische Leukodystrophie)
Metachromatic Leukodystrophy Deletion/Duplication Panel
Metachromatic Leukodystrophy Sequencing Panel
Metaphyseal anadysplasia 1 (MANDP1) and Metaphyseal anadysplasia 2 (MANDP2)
Metaphyseal dysplasia Panel
Metaphyseal Dysplasia Related Disorder , Panel Massive Sequencing (NGS) 5 Genes
Methylation analysis in the MLH1 and MSH2 genes by MS-MLPA
Methylglutaconic Aciduria Nuclear Gene Panel
Methylmalonic Acid - Plasma
Methylmalonic Acid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)
Methylmalonic Acid Metabolism NGS Panel
Methylmalonic Acidemia Deletion/Duplication Panel
Methylmalonic Acidemia Panel - Sequence Analysis
Methylmalonic Acidemia Panel Del/Dup Analysis
Methylmalonic Acidemia Panel Sequence and Del/Dup
Methylmalonic Acidemia Sequencing Panel
Methylmalonic acidemia test
Methylmalonic Acidemia with Homocystinuria Types cblJ,cbIC,cbIF,cbID , Panel Massive Sequencing (NGS) ABCD4,MMADHC,MMACHC,LMBRD1 Genes
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
Methylmalonic aciduria (NGS panel for 15 genes)
Methylmalonic Aciduria and Homocysteinuria
Methylmalonic aciduria and homocystinuria (Methylmalonic aciduria and homocystinuria)
Methylmalonic Aciduria and Homocystinuria Deletion/Duplication Panel
Methylmalonic Aciduria and Homocystinuria NGS Panel
Methylmalonic Aciduria and Homocystinuria Sequencing Panel
Methylmalonic Aciduria: MMAA and MMAB Gene Deletion/Duplication
Methylmalonic Aciduria: MMAA and MMAB Gene Sequencing
MFSD8-Related Neuronal Ceroid-Lipofuscinosis Test
Microcephalic Osteodysplastic Primordial Dwarfism NGS Panel
Microcephalic Primordial Dwarfism
Microcephalic primordial dwarfism NGS panel
Microcephaly
Microcephaly and Dwarfism Syndromes
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes)
Microcephaly and Pontocerebellar Hypoplasia Panel
Microcephaly NGS Panel
Microcephaly Panel
Microcephaly Sequencing Panel
Microcephaly Spotlight Panel
Microcephaly, Primary, Autosomal Recessive
Microcephlay
Micromelic Dysplasia Panel
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel
Microphthalmia (NGS panel for 26 genes)
Microphthalmia NGS panel
Microphthalmia Panel
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
Microphthalmia, Panel Massive Sequencing (NGS) 14 Genes
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR
Microsatellite Instability (MSI), Lynch Syndrome (HNPCC)
Migraine
Migraine NGS Panel
Migraine Panel
Migraine Spotlight Panel
Migraine, familial (Migräne familiäre)
Migraine, familial hemiplegic
Miscarriage, Stillbirth, and Neonatal Death Sequencing Panel
Mismatch Repair by Immunohistochemistry
Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation
Mitochondrial Anemia
Mitochondrial Cardiomyopathy
Mitochondrial Cardiomyopathy Test
Mitochondrial Complex I Deficiency Deletion/Duplication Panel (Nuclear Genes)
Mitochondrial Complex I Deficiency Nuclear Gene Panel
Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes)
Mitochondrial Complex II Deficiency Deletion/Duplication Panel
Mitochondrial Complex II Deficiency Sequencing Panel
Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)
Mitochondrial Complex IV Deficiency Nuclear Gene Panel
Mitochondrial Complex IV Deficiency Sequencing Panel (Nuclear Genes)
Mitochondrial Complex V Deficiency Sequencing Panel (Nuclear Genes)
Mitochondrial Deafness
Mitochondrial Diseases
Mitochondrial Diseases – Nuclear Genes Only: Deletion/Duplication Panel
Mitochondrial Diseases – Nuclear Genes Only: Sequencing Panel
Mitochondrial Disorders
Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)
Mitochondrial Disorders (121 Nuclear Genes) Sequencing
Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication
Mitochondrial Disorders (mtDNA) Sequencing
Mitochondrial Disorders (mtDNA) Sequencing and Deletion/Duplication
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes)
Mitochondrial Disorders Panel
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
Mitochondrial Disorders Test
Mitochondrial Disorders, Panel Massive Sequencing 37 Genes
Mitochondrial DNA depletion syndrome (Mitochnodriales Depletionssyndrom)
Mitochondrial DNA Depletion Syndrome Panel
Mitochondrial DNA Depletion Syndrome, Panel Massive Sequencing (NGS) 14 Genes
Mitochondrial Encephalopathy
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Deletion/Duplication panel
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing panel
Mitochondrial Hepato(encephalo)pathy and Phenocopies
Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 45 genes + mtDNA)
Mitochondrial Myopathy
Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 genes + mtDNA)
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes) Test
Mitochondrial Type MELAS Encephalopathy , Related Mutations
Mitochondrial Type MERRF Encephalopathy , Related Mutations
Mitochondriopathies
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO)
Miyoshi muscular dystrophy (Miyoshi Muskeldystrophie)
MLH1 Gene Analysis
MLPA
MLPA detection of large deletions and duplications in the SMAD4 and BMPR1A genes
MNG Carrier Exome
MNG Exome Additional Family Member
MNG Exome Proband Only Sequencing + mtDNA
MNG Exome Trio Sequencing + mtDNA
MODY (MODY Diabetes)
MODY (NGS panel for 13 genes)
MODY 1 - 14
MODY Neonatal Diabetes NGS Panel
MODY Panel
MODY Research panel
MODY Sequencing Panel
MODY1/2/3 (Maturity onset diabetes of the young)
Molecular testing for spinocerebellar ataxias
Molybdenum Cofactor Deficiency
Molybdenum Cofactor Deficiency Panel
Monogenic Obesity Panel
Monogenic Obesity Sequencing Panel
Motor and Sensory Neuropathy Panel
Motor Neuron Disorder and Related Diseases, Panel Massive Sequencing (NGS) 49 Genes
Moyamoya Disease, Panel Massive Sequencing (NGS) ACTA2, RNF213 Genes
MPV17 Sequence analysis
MSH2 Gene Analysis
MSH6 Gene Analysis
MSUD Panel (MitomeNGS)
MSUD Sequencing panel
mtDNA ATPase Subunits Seq
mtDNA Complex I Subunits Seq
mtDNA COX Subunits Seq
mtDNA Depletion Syndrome NGS Panel
MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
mtDNA encoded Mitochondriopathies Panel
MTHFR Deficiency Test
MTHFR Sequence analysis
MTHFR Thermolabile Variant Test
MTRNL Inherited Hearing Loss
mtSEEK® Mitochondrial Genome Sequencing
Mucopolysaccharidosis (Mukopolysaccharidose)
Mucopolysaccharidosis and Mucolipid Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 genes)
Mucopolysaccharidosis NGS Panel
Mucopolysaccharidosis Type III Deletion/Duplication Panel
Mucopolysaccharidosis Type III Sequencing Panel
Mucopolysaccharidosis Type III: SGSH, GNS, HGSNAT, and NAGLU Gene Deletion/Duplication Panel
Mucopolysaccharidosis Type III: SGSH, GNS, HGSNAT, and NAGLU Gene Sequencing Panel
Mucopolysaccharidosis Type IVB Test
Mucopolysaccharidosis, Panel Massive Sequencing (NGS) 11 Genes
Muir-Torre syndrome (sequence analysis of MLH1 and MSH2 genes)
Muir-Torre Syndrome Test
Multi-Gene Cardiovascular Diseases Predisposition Test (analysis of the most common mutation in 8 genes)
Multiple Acyl-CoA Dehydrogenase (MADD) Deficiency: Gene Deletion/Duplication Panel
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Gene Deletion/Duplication Panel
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Gene Sequencing Panel
Multiple Acyl-CoA Dehydrogenase Deficiency Panel
Multiple Acyl-CoA Dehydrogenase Deficiency Test
Multiple endocrine Neoplasia (Multiple endokrine Neoplasie)
Multiple Endocrine Neoplasia Type 1 NGS Panel
Multiple Endocrine Neoplasia Type 1 Test
Multiple Endocrine Neoplasia Type 2 Test
Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia (MED) NGS panel
Multiple epiphyseal dysplasia (MED) NGS panel Comprehensive Test
Multiple Epiphyseal Dysplasia , Sequencing Exons (8-14) COMP Gene and Exon 2 MATN3 Gene
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel
Multiple Epiphyseal Dysplasia Deletion/Duplication Panel
Multiple Epiphyseal Dysplasia Deletion/Duplication, 6 Genes
Multiple Epiphyseal Dysplasia NGS Panel
Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes
Multiple Epiphyseal Dysplasia Sequencing Panel
Multiple Epiphyseal Dysplasia Sequencing, 6 Genes
Multiple Epiphyseal Dysplasia, Dominant Test
Multiple Epiphyseal Dysplasia, Panel Massive Sequencing (NGS) 7 Genes
Multiple Epiphyseal Dysplasia: Deletion/Duplication Panel
Multiple Epiphyseal Dysplasia: Sequencing Panel
Multiple pterygium syndrome (NGS panel for 14 genes)
Multiple Pterygium Syndrome, Lethal Type (LMPS)
Multiple Synostosis Syndrome 1and 2 Test (the GDF5 and NOG genesentire)
Multiple Synostosis Syndrome and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes
Multiple System Atrophy (Cerebellar Type) , Sequencing COQ2 Gene
Multiples Pterygium syndrome (Multiples Pterygium Syndrom)
Muscle Disease with CNS Involvement
Muscle Disease with Contractures and/or Rigid Spine
Muscle Disease with Distal Myopathy
Muscle Disease with FSHD Phenocopies
Muscle Disease with Ptosis / External Ophthalmoplegia
Muscle disorders panel
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
Muscle Weakness (Myopathy, Muscular Dystrophy)
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)
Muscular Dystrophies NGS Panel
Muscular Dystrophies Panel
Muscular Dystrophy
Muscular Dystrophy (LGMD/EDMD) Panel (25 Genes)
Muscular dystrophy, congenital (Muskeldystrophie kongenital)
Muscular dystrophy, limb-girdle (Gliedergürtel-Muskeldystrophie)
Muscular dystrophy-dystroglycanopathy
Mutation analysis in colorectal cancer by next generation sequencing
Mutation panel of AMELX, ENAM, MMP20, KLK4, DLX3, FAM83H, WDR72
Mutation screening in exons 12 and 18 of the SCN4A gene and exon 21 of the CACNA1S gene
MUTYH Gene Analysis
MUTYH-Associated Polyposis: MUTYH Gene Sequencing
Myasthenic syndrome (Myasthenie)
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)
Myasthenic syndrome, congenital (NGS panel for 17genes)
Myelodysplastic Syndromes, Panel Deletions-Duplications (MLPA)
Myelofibrosis NGS panel
Myoclonic A (Progressive) Spotlight Panel
Myoclonic B Spotlight Panel
Myoclonic Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 34 Genes)
Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF): Targeted Mutation Analysis
Myoclonic Epilepsy associated with Ragged-red Fibers (MERRF)
Myoclonic epilepsy, juvenile (juvenile myoklonische Epilepsie)
Myoclonus Dystonia, Panel Massive Sequencing (NGS) SGCE, DRD2, TOR1A Genes
Myoclonus-Dystonia Test
Myofibrillar Myopathy Deletion/Duplication Panel
Myofibrillar Myopathy NGS Panel
Myofibrillar Myopathy Panel
Myofibrillar Myopathy Panel (8 Genes)
Myofibrillar Myopathy Sequencing Panel
Myofibrillar myopathy, NGS panel (+DEL/DUP)
Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes
MyoGene Panel (43 Genes)
Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes
Myopathy-Rhabdomyolysis NGS Panel
Myotonia
Myotonia congenita (Myotonia congenita)
Myotonia Panel
Myotonic dystrophy (Myotone Dystrophie)
Myotubular/Centronuclear Myopathy Panel (5 Genes)
Myriad myRisk Hereditary Cancer
myRisk® Test
 

N 

Nail-Patella Syndrome Test
Narcolepsy Risk Factor
NBIA Deletion / Duplication Panel
NBIA Sequencing Panel
NCL (Batten Disease) Panel
NCL and Progressive Myoclonic Epilepsy Panel
NCLNext - Neuronal Ceroid Lipofuscinosis Panel
NDP-Related Retinopathies Test
NDUFV1 Sequence analysis
Nemaline Congenital Myopathy NGS Panel
Nemaline Myopathy
Nemaline myopathy (Nemaline Myopathie)
Nemaline Myopathy Deletion/Duplication Panel
Nemaline Myopathy NGS Panel
Nemaline Myopathy Panel
Nemaline Myopathy Panel (7 Genes)
Nemaline Myopathy Sequencing Panel
Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes
Neonatal and Adult Cholestasis: Deletion/Duplication Panel
Neonatal and Adult Cholestasis: Sequencing Panel
Neonatal Diabetes Mellitus (NDM) Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel
Neonatal Diabetes Mellitus (NDM) Sequencing Panel
Neonatal Diabetes/MODY Sequencing Panel
Neonatal Progeroid Syndrome
Neonatal Respiratory Distress - Surfactant Dysfunction Panel
Neonatal Respiratory Distress Panel
Neonatal Seizures Spotlight Panel
Nephrogenic Diabetes Insipidus, Panel Massive Sequencing (NGS) AQP2, AVPR2 Genes
Nephrolithiasis and Nephrocalcinosis Deletion/Duplication Panel
Nephrolithiasis and Nephrocalcinosis Sequencing Panel
Nephronophthisis
Nephronophthisis (NGS panel of 19 genes)
Nephronophthisis and Senior-Loken Syndrome Deletion/Duplication Panel
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel
Nephronophthisis Deletion/Duplication panel
Nephronophthisis NGS Panel
Nephronophthisis Panel
Nephronophthisis Sequencing Panel
Nephronophthisis, Panel Massive Sequencing (NGS) 11 Genes
Nephronophthisis: Extended Deletion/Duplication Panel
Nephronophthisis: Extended Sequencing Panel
Nephronophthisis: NPHP1, INVS, NPHP3, and NPHP4 Gene Deletion/Duplication Panel
Nephronophthisis: NPHP1, INVS, NPHP3, and NPHP4 Gene Sequencing Panel
Nephrotic syndrome
Nephrotic syndrome (NGS panel for 11 genes)
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Deletion/Duplication Panel
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set
Nephrotic syndrome Multi-Gene Panels
Nephrotic Syndrome Panel
Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes)
Nervous System/Brain Cancer Comprehensive Panel
Neu-Laxova Syndrome 1 / 2 (NLS1 / NLS2)
Neuro-Ophthalmology Panel
Neuroacanthocytosis Panel
Neuroaxonal dystrophy, infantile (Infantile neuroaxonale Dystrophie)
Neuroblastoma Panel (ALK and PHOX2B sequence analysis)
Neuroblastoma, Panel Massive Sequencing (NGS) 4 Genes
Neurodegeneration Associated to Pantothenate Kinase, Panel Massive Sequencing (NGS) 9 Genes
Neurodegeneration with Brain Iron Accumulation (NBIA)
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Neurodegeneration with brain iron accumulation (NBIA), NGS panel
Neurodegeneration with Brain Iron Accumulation (NBIA), Panel Massive Sequencing (NGS) 10 Genes
Neurodegeneration with brain iron accumulation (Neuroferritinopathie)
Neurodegeneration with Brain Iron Accumulation (NextGen Sequencing Panel and Copy Number Analysis; 10 genes)
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Deletion/Duplication Panel
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel
Neurodegeneration with Brain Iron Accumulation NGS Panel
Neurodegenerative Diseases Panel
Neurodevelopment -Expanded
Neurofibromatosis (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes)
Neurofibromatosis 1 Test
Neurofibromatosis 2 Test
Neurofibromatosis and Related Disorders , Panel Massive Sequencing (NGS) NF1, NF2, SPRED1 Genes
Neurofibromatosis and related disorders NGS panel
Neurofibromatosis NGS Panel
Neurofibromatosis Panel
Neurofibromatosis Type 1 and Legius Syndrome Deletion/Duplication Panel
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel
Neurofibromatosis type 1 and type 2 and Schwannomatosis (NGS panel of 3 genes)
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Deletion/Duplication Panel
Neurohypophyseal Diabetes Insipidus and Nephrogenic Diabetes Insipidus Sequencing Panel
Neurological Panel
Neurology: Deletion/Duplication Panel
Neurology: Sequencing Panel
Neuromuscular Channelopathies, Panel Massive Sequencing (NGS) 47 Genes
Neuromuscular Diseases Panel
Neuromuscular Disorders Panel
Neuromuscular Disorders: Deletion/Duplication Panel
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel
Neuromuscular Disorders: Sequencing Panel
Neuromuscular NGS Panel
Neuromuscular Sequencing Panel
Neuronal Ceroid Lipofuscinoses
Neuronal Ceroid Lipofuscinoses (Batten Disease) Deletion/Duplication Panel
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel
Neuronal Ceroid Lipofuscinoses, Panel Massive Sequencing (NGS) 12 Genes
Neuronal Ceroid Lipofuscinosis (NCL)/Batten Disease Spotlight Panel
Neuronal ceroid lipofuscinosis (NGS panel for 9 genes)
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel
Neuronal Ceroid Lipofuscinosis NGS Panel
Neuronal Ceroid-Lipofuscinoses Panel
Neuronal Ceroid-Lipofuscinoses test
Neuronal Ceroid-Lipofuscinoses: Sequencing Panel
Neuronal Ceroid-Lipofuscinoses: Deletion/Duplication Panel
Neuronal Ceroid-Lipofuscinoses: Sequencing Panel
Neuronal Ceroidlipofuscinosis (NCL) Panel
Neuronal Migration Disorder Panel
Neuronal Migration Disorders (multigene NGS panel)
Neuronal Migration Disorders Panel
Neuronal Migration with Microcephaly
Neuropathic Pain Spotlight Panel
Neuropathic Pain Syndromes Panel
Neuropathy
Neuropathy Plus, Complex Phenotypes
Neuropathy, Motor - Distal Motor Neuropathy (dHMN) – Distal SMA
Neuropathy, Motor and Sensory – Axonal
Neuropathy, Motor and Sensory – Basic Diagnostics
Neuropathy, Motor and Sensory – Demyelinating
Neuropathy, Motor and Sensory – Early Childhood Manifestation
Neuropathy, Sensory (Autonomic)
Neurotransmitter Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 101 Genes)
Neutropenia, severe congenital (Neutropenie, schwere kongenitale)
Newborn: Neonatal Apneas
Newborn: “Floppy Infant “
NewbornDx
NewbornDx HL
NGS and detection of deletions/duplications by MLPA of 3 genes: BMPR1A, PTEN, SMAD4
NGS Aortic Dysfunction and Dilation and Related Disorders Panel
NGS Connective Tissue Panel
NGS Craniosynostosis Panel
NGS Epilepsy / Seizures Panel
NGS Hearing Loss Panel
NGS HemeOnc Panel
NGS Lysosomal Storage Disease Panel
NGS Neuronal Ceroid Lipofuscinosis Panel
NGS Non-immune Hydrops Panel
NGS of 10 genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27
NGS of 10 genes: BRAF, CBL, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1.
NGS of 10 genes: COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
NGS of 10 genes: GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
NGS of 11 genes: ABCA1, ABCC6, APOA1, APOB, APOE, ENPP1, LDLR, LPL, LRP6, MEF2A, PCSK9
NGS of 11 genes: ABCA4, ADAM9, CACNA2D4, CERKL, CDHR1, CNGB3, KCNV2, PDE6C, RAX2, RDH5, RPGRIP1
NGS of 11 genes: AILP1, BEST1, CRX, GUCAIA, GUCY2D, PITPNM3, PROM1, RIMS1, PRPH2-RDS, SEMA4A, UNC119
NGS of 11 genes: APC, BRCA1, BRCA2, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, PMS1, TP53.
NGS of 11 genes: CDH23, CIB2, CLRN1, GPR98, M YO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN
NGS of 12 genes: ALS2, AP5Z1, CYP7B1, FA2H, GJC2, KIF1A, PNPLA6, SPG7, SPG11, SPG20, SPG21, ZFYVE26.
NGS of 12 genes: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2 NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
NGS of 12 genes: CRYAA, CRYAB, CRYBB1, CRYBB3, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7, AGK
NGS of 13 genes, ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and detections of deletions and/or duplications in the GLA, MYBPC3 and TNNT2 genes by MLPA
NGS of 13 genes: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2
NGS of 13 genes: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2 and Detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
NGS of 13 genes: ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1
NGS of 13 genes: AFG3L2, BEAN, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PDYN, PLEKHG4, PRKCG, SPTBN2, TGM6, TTBK2.
NGS of 13 genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A
NGS of 13 genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A , SNTA
NGS of 13 genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 and detection of large deletions and/ or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A genes by MLPA
NGS of 13 genes: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE1L, KCNE3, KCNJ8, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A
NGS of 13 genes: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE1L, KCNE3, KCNJ8, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A and SCN5A gene by MLPA
NGS of 13 genes: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN
NGS of 13 genes: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN and Detection of large deletions and/ or duplications in genes, DSP and PKP2 by MLPA
NGS of 13 genes: EGR2, FGD4, FIG4, GDAP1, GDAP1L1, HK1, MPZ, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2.
NGS of 15 genes: AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LRSAM1, MFN2, MPZ, NEFL, RAB7A, TRPV4,YARS.
NGS of 15 genes: BRCA1, BRCA2, BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4 , PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2 and complementary Sanger sequencing of PTEN gene
NGS of 15 genes: BRCA1, BRCA2, BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4 , PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2, complementary Sanger sequencing of PTEN gene and BRCA1 and BRCA2 by MLPA
NGS of 15 genes: COL 6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, LARGE, LAM A2, LMNA, PABPN1, PLEC, POMGNT1, POMT1, POMT2, SEP
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
NGS of 16 genes: BRCA2, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4.
NGS of 17 genes: AIPL1, CABP4, CEP290, CR81, CRX, GUCY2D, IMPDH1, IQC81, LCA5, LRAT, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
NGS of 17 genes: DES, EMD, GAA, GLA, HCN1, HCN4, KCNA5, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN5A, SCN1B, SCN4B, TRPM4
NGS of 18 genes: ANO5, CAPN3, CAV3, DAG1, DYSF, FKRP, FKTN, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN.
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G
NGS of 19 genes: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE1L, KCNE2, KCNE4, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G and Detection of large deletions and/ or duplication in genes KCNQ1, KCNH2, KCNE2, SCN5A by MLPA
NGS of 19 genes: ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, HCN4, JAG1, MYH6, NKX2-3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1
NGS of 2 genes, GORAB, PLOD2.
NGS of 2 genes: ABCB7, PRNP
NGS of 2 genes: ACTA2, MYH11.
NGS of 2 genes: ALX3 and ALX4
NGS of 2 genes: ALX3 and ALX4 and detection of large deletions and/or duplications in the ALX1, ALX3 and ALX4 genes by MLPA
NGS of 2 genes: ATM, MRE11A
NGS of 2 genes: ATP7A, FLNA
NGS of 2 genes: C10orf2, POLG
NGS of 2 genes: CHAT, VAMP2.
NGS of 2 genes: COL17A1, COL7A1.
NGS of 2 genes: COL1A1, COL1A2
NGS of 2 genes: DOK7, RAPSN
NGS of 2 genes: EGR2, MPZ.
NGS of 2 genes: EIF2AK3, SLC26A2.
NGS of 2 genes: FBLN5 and EFEMP2
NGS of 2 genes: FLNB, SLC26A2
NGS of 2 genes: GDAP1, TRPV4
NGS of 2 genes: GJB1 , PRPS1.
NGS of 2 genes: GORAB, LRP5.
NGS of 2 genes: KCNE1, KCNQ1.
NGS of 2 genes: L1CAM, PLP1.
NGS of 2 genes: L1CAM, SLC33A1
NGS of 2 genes: LRP5, SOST
NGS of 2 genes: LRP6, MEF2A
NGS of 2 genes: MAPT, SNCB
NGS of 2 genes: MPZ, PMP22
NGS of 2 genes: SPTLC1, WNK1.
NGS of 2 genes: TRAPPC2, WISP3.
NGS of 20 genes: ABCA4, BEST1, CA4, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, RGR, RP1, RHO, RP9, PRPF3, PRPF8, PRPH2, PRPF31, SEMA4A, SNRNP200, TOPORS
NGS of 21 genes: APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4,HOXB13, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS1, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2 and complementary Sanger sequencing of PTEN gene
NGS of 23 genes: ADH1C, ATP13A2, ATP1A3, DCTN1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG1, SNCA, SNCAIP, SNCB, UCHL1, VPS35.
NGS of 25 genes: ANO 5, CAPN3, CAV3, DAG1, DMD, DYSF, EMD, FHL1, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGC A, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN
NGS of 27 genes: ACTG1, CCDC50, CEACAM16, COC H, COL11A2, CRYM, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MY O6, MYO7A, POU4F3, SLC17A8, SMAC/DIABLO, TECTA, TJ P2, TMC1, WFS1
NGS of 27 genes: ALS2, AP5Z1, ATL1, BSCL2, CCT5, CYP7B1, FA2H, GJC2, HSPD1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, SLC16A2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26, ZFYVE27.
NGS of 27 genes: BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, PRDM1, PRKCQ, PTPRC,RAG1, RBPJ, STAT4, RAG1,TAGAP, TNFAIP3,TNFRSF14,TRAF1, TRAF3IP2, TRAF6, VAMP2
NGS of 28 genes, ABCA4, ARL6, C2orf71, CERKL, CNGA1, CNGB1, CRB1, EYS, IDH3B, IMPG2, MERTK, NR2E3, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RDH12, RGR, RHO, RP1, RPE65, SAG, SEMA4A, TTC8, TULP1, USH2A, ZNF513
NGS of 3 genes, RET, MEN1, VHL
NGS of 3 genes: ADAMTS10, ADAMTS17, ADAMTSL2.
NGS of 3 genes: AFG3L2, MTPAP, SACS.
NGS of 3 genes: ANO5, COL1A1, COL1A2.
NGS of 3 genes: APC, AXIN2, MUTYH
NGS of 3 genes: APC, AXIN2, MUTYH + APC by MLPA
NGS of 3 genes: APOB, LDLR, PCSK9
NGS of 3 genes: APTX, PIK3R5, SETX
NGS of 3 genes: ATL1, CCT5, KIF1A.
NGS of 3 genes: ATM, ATR, MRE11A
NGS of 3 genes: ATM, BRCA2, PALB2
NGS of 3 genes: ATP1A3, DCTN1, GCH1
NGS of 3 genes: BMPR1B, GDF5, NPR2
NGS of 3 genes: BRAF, PTPN11, RAF1
NGS of 3 genes: BRCA2, CHEK2, HOXB13.
NGS of 3 genes: BSND, GATA3, MYH9.
NGS of 3 genes: CAV3, LMNA, MYOT.
NGS of 3 genes: CHRNA1, CHRND, CHRNG
NGS of 3 genes: COL2A1, ENPP1, IHH.
NGS of 3 genes: COL6A1, COL6A2, COL6A3.
NGS of 3 genes: COLEC11, MASP1, PAX3.
NGS of 3 genes: CUL7, OBSL1, PCNT.
NGS of 3 genes: DKC1, TERT, NOP10
NGS of 3 genes: DLX3, NOTCH2, WNT10A
NGS of 3 genes: EFNB1, MSX2, TWIST1
NGS of 3 genes: ELANE, GFI1, WAS,
NGS of 3 genes: FLNA, FLNB, SH3PXD2B.
NGS of 3 genes: FUS, MAPT, TARDBP
NGS of 3 genes: FXN, MTP, TTPA.
NGS of 3 genes: ITM2B, SCN8A, TARDBP
NGS of 3 genes: KCNJ2, CACNA1C, KCNQ1
NGS of 3 genes: LMX1B, PITX1, TBX4.
NGS of 3 genes: MLH1, MHS2, MSH6
NGS of 3 genes: MLH1, MSH2, MSH6
NGS of 3 genes: NUDT1, OGG1, MUTYH
NGS of 3 genes: POU3F4, PRPS1, SMPX
NGS of 3 genes: SLC26A4, KCNJ10, FOXI1
NGS of 3 genes: SMAD3, TGFBR1, TGFBR2
NGS of 3 genes: SMAD4, PTEN, STK11.
NGS of 30 genes: ADCK3, AFG3L2, ANO10, APTX, BEAN, CACNA1A, CACNB4, FGF14, FXN, IFRD1, ITPR1, KCNA1, KCNC3, MTP, MTPAP, PDYN, PIK3R5, PLEKHG4, PRKCG, SACS, SETX, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TTBK2, TTPA, ZNF592
NGS of 34 genes: AARS, ARHGEF10, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GDAP1L1, GJB1, HK1, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PRX, PMP22, PRPS1, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS.
NGS of 34 genes: ACT A1, ATP2A1, BAG3, BIN1, CAV3, CFL2, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNM2, DYSF, FH L1, FLNC, GNE, ISCU, KBTBD13, LDB3, MATR3, MTM1, M YH2, MYH7, MYOT, NEB, RYR1, SEPN1, TNNT1, TPM2, TP M3, TTN, VCP
NGS of 35 genes: ACTC1, ACTN2, AGL, ANK2, ANKRD1, CALR3, CAV3, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLEC, PLN, PRKAG2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL and detection of
NGS of 35 genes: ACTC1, ACTN2, AGL, ANK2, ANKRD1, CALR3, CAV3, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLEC, PLN, PRKAG2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL.
NGS of 38 genes: ABCD1, ARSA,ASPA,CSF1R,EIF2B1 ,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GFAP, GJ C2,HSPD1,MLC1,NOTCH3,PEX1,PEX2,PEX3,PEX5,PEX6,PEX7 ,PEX10,PEX12,PEX13,PEX14, PEX26,PLP1,POLR3A,PSAP,R NASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SDHA,SOX10,SUMF1, TREX
NGS of 4 gene paneL: EFEMP2, FBLN5, NOTCH1, SLC2A10
NGS of 4 genes: ABCB11, ATP8B1, ABCB4, JAG1.
NGS of 4 genes: ACAN, CHST3, COL2A1, TRPV4.
NGS of 4 genes: ACTA1, RYR1, SEPN1, TPM3
NGS of 4 genes: ADAMTSL2, IHH, WDR19, WDR35.
NGS of 4 genes: ANK2, CASQ2, KCNJ2, RYR2.
NGS of 4 genes: ASXL1, RECQL4, RNU4ATAC, SOX2
NGS of 4 genes: ATCAY, CA8, KIAA0226, VLDLR
NGS of 4 genes: ATP7A, IGHMBP2, PLEKHG5, UBA1
NGS of 4 genes: ATP7A, PSMB8, PTRF, VRK1
NGS of 4 genes: BIN1, DNM2, MTM1, RYR1
NGS of 4 genes: CACNA1A, CACNB4, KCNA1, SLC1A3
NGS of 4 genes: CHST14, CHST3, PAPSS2, SLC26A2
NGS of 4 genes: CLCN7, FAM123B, LEMD3, LRP5.
NGS of 4 genes: COL1A1, FAM20C, GDF5, PTH1R.
NGS of 4 genes: COL4A3, COL4A4, COL4A5, COL4A6.
NGS of 4 genes: CYP27A1, DNAJC19, PC, PDHA1.
NGS of 4 genes: DLX3, ENAM, FAM83H, WDR72
NGS of 4 genes: DSPP, MSX1, PTH1R, WNT10A.
NGS of 4 genes: DYNC2H1, IFT80, TTC21B, WDR19.
NGS of 4 genes: EGR2, MPZ, PMP22, PRX
NGS of 4 genes: ENAM, FAM20A, KLK4, MMP20
NGS of 4 genes: FMR1, KDM5C, KIF1A, SLC16A2.
NGS of 4 genes: GJA1, KCND3, KCNJ8, SCN5A
NGS of 4 genes: GJC2, HSPD1, POLR3A, PLP
NGS of 4 genes: GPC6, ORC1, ROR2, SHOX.
NGS of 4 genes: IL11RA, MSX2, RECQL4, TWIST1.
NGS of 4 genes: LMBR1, TP63, WNT3, WNT10B.
NGS of 4 genes: LRRK2, PARK2, PARK7, PINK1
NGS of 4 genes: MLH1, MSH2, MSH6, PMS1 and detection of deletions/duplications MLH1, MSH2, EPCAM, and MSH6 by MLPA
NGS of 4 genes: SGCA, SGCB, SGCG, SGCD
NGS of 4 genes: SMN1, SMN2, TRPV4, VAPB
NGS of 4 genes: VHL, MET, FLCN, SDHB
NGS of 40 genes: AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP, TNFAIP3, TNFRSF14, T
NGS of 44 genes: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO
NGS of 44 genes: BSND, CABP2, CDH23, CIB2, CL DN14, COL11A2, DFNB59, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, LHFPL5, LOXHD1, L RTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A , OTOF, OTOG, OTOGL, PCDH15, PNPT1, PTPRQ, RDX, SE RPINB6,
NGS of 5 genes: ADCK3, COQ2, COQ9, PDSS1, PDSS2.
NGS of 5 genes: ADH1C, GBA, MAPT, PDXK, SNCAIP
NGS of 5 genes: ANKH, FAM123B, PTH1R, SLC34A1, SLC9A3R1.
NGS of 5 genes: ATP2A 1, CLCN1, CNTN1, FHL1, TTN.
NGS of 5 genes: B3GAT3, CANT1, CHST3, FLNB, PRG4.
NGS of 5 genes: BRAF, HRAS, KRAS, M2K1, MAP2K1
NGS of 5 genes: CEP290, GPR56, NPHP1, RPGRIP1L, TMEM67
NGS of 5 genes: CHSY1, GNAS, HOXA13, MGP, SOX9.
NGS of 5 genes: COL10A1, MMP13, MMP9, PTH1R, RMRP
NGS of 5 genes: COL11A1, COL11A2, COL2A1, COL18A1, VCAN
NGS of 5 genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2.
NGS of 5 genes: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11.
NGS of 5 genes: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3
NGS of 5 genes: COL6A2, GLE1, PLOD3, VIPAS39, VPS33B
NGS of 5 genes: DNM2, GDAP1, KARS, MPZ, YARS.
NGS of 5 genes: EFEMP2, ELN, FBLN5, LTBP4, PYCR1
NGS of 5 genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5.
NGS of 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2.
NGS of 5 genes: EPCAM, MLH1, MSH2, MSH6, PMS1
NGS of 5 genes: ESCO2, RECQL4, TP63, TBX15, WNT7A
NGS of 5 genes: FMR1, KCNJ10, PAX6, PRPS1, SLC9A6
NGS of 5 genes: GDAP1, GDAP1L1, LMNA, MED25, NEFL.
NGS of 5 genes: MYH14, PRPS1, TIMM8A, WFS1, Z CD2/CISD2
NGS of 55 genes: SOD1, TARDBP, TMEM67, VAPB, VLDLR. ABCB7, ABHD12, ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B, KCNJ10, K
NGS of 6 genes: ABHD12, FLVCR1, OPA1, EX7, PHYH, SIL1.
NGS of 6 genes: ALX3, ALX4, ANKH, EFNB1, FLNA, SOST.
NGS of 6 genes: ANO10, ADCK3, SYNE1, SYT14, TDP1, ZNF592.
NGS of 6 genes: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2
NGS of 6 genes: ATP13A2, FBXO7, PARK2, PARK7, PINK1, PLA2G6.
NGS of 6 genes: BAG3, CRYAB, DES, FLNC, LDB3, MYOT.
NGS of 6 genes: BMPER, DLL3, GDF6, HES7, LFNG, MESP2.
NGS of 6 genes: BRCA1, BRCA2, CDH1, PTEN, STK11, TP53, complementary Sanger sequencing of PTEN gene + MLPA BRCA1 y BRCA2
NGS of 6 genes: BSCL2 , DCTN1, GARS, HSPB1, HSPB8, REEP1
NGS of 6 genes: CAV3 , DYSF, FLNC, GNE, MATR3, MYH7.
NGS of 6 genes: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4.
NGS of 6 genes: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB.
NGS of 6 genes: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3.
NGS of 6 genes: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2
NGS of 6 genes: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2. And detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
NGS of 6 genes: COL9 A3, GSN, HSPG2, MYH7, OPA1, TAZ.
NGS of 6 genes: EFEMP2, FBLN5, SLC2A10, SMAD3, TGFBR1, TGFBR2
NGS of 6 genes: FGF9, FLNB, GDF5, HOXA11, NOG, TTR.
NGS of 6 genes: FKRP , FKTN, LARGE, POMGNT1, POMT1, POMT2.
NGS of 6 genes: GLI3, HOXD10, HOXD13, LMBR1, LRP4, PITX1.
NGS of 6 genes: GNE, ISCU, MYH2, MYH7, MYOT, VCP
NGS of 6 genes: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2
NGS of 6 genes: MYBPC1, MYH8, MYH3, TNNI2, TNNT3, TPM2
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN and Detection of large deletions and/or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A by MLPA. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2,
NGS of 7 genes: ACAN, COL2A1, HPGD, IL1RN, LPIN2, TRPV4, WISP3.
NGS of 7 genes: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7.
NGS of 7 genes: ALPL, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3.
NGS of 7 genes: ALPL, GHR, GHSR, HSPG2, LIFR, RMRP, SOX9.
NGS of 7 genes: ANKH, DLX3, HPGD, LRP4, SOST, TGFB1, TNFRSF11B.
NGS of 7 genes: ARHGEF10, EGR2, GDAP1, LITAF, MPZ, NEFL, PMP22
NGS of 7 genes: BANF1, MMP2, SQSTM1, TNFRSF11A, TREM2, TYROBP, WNK1,
NGS of 7 genes: BMPR1B, GDF5, HOXD13, IHH, NOG, PTHLH, ROR2.
NGS of 7 genes: C10orf2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP
NGS of 7 genes: CA2, CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11.
NGS of 7 genes: CHKB, ITGA7, LAMA2, LMNA, PABPN1, PLEC, SEPN1.
NGS of 7 genes: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEX1, WDR35.
NGS of 7 genes: EIF4G1, GIGYF2, HTRA2, LRRK2, SNCA, UCHL1, VPS35.
NGS of 7 genes: GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1.
NGS of 7 genes: KIF1B, MAX, RET, SDHAF2, SDHB, TMEM127, VHL
NGS of 79 genes: ACTG1, BSND, CABP2, CCDC50, LC17A8, SLC26A4, SLC26A5, SMAC/DIABLO, SMPX, TECTA TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1 and WHRN. CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLRN1, COCH, COL11A2, CRYM,
NGS of 8 genes: ACTA2, COL3A1, FBN1, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR2 and Detection of large deletions and/or duplications in the COL3A1, FBN1, and TGFBR2 genes and MLPA
NGS of 8 genes: ACTA2, COL3A1, FBN1, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR2,
NGS of 8 genes: ACTC1, DES, MYH7, MYPN, TNNI3, TNNT2, TNNC1, TTR
NGS of 8 genes: ACTC1, DTNA, LDB3, MYBPC3, MYH7, TAZ TNNT2, TPM1.
NGS of 8 genes: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469.
NGS of 8 genes: ALX3, ALX4, DHODH, EFNB1, EVC, EVC2, POLR1C, TCOF1.
NGS of 8 genes: ANO5 , DMD, DYSF, EMD, FHL1, LMNA, SYNE1, SYNE2.
NGS of 8 genes: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1.
NGS of 8 genes: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1. and detection of deletions/duplications in genes KCNQ1, KCNH2 by MLPA
NGS of 8 genes: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2.
NGS of 8 genes: CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
NGS of 8 genes: HPS1, P3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3
NGS of 9 genes: ALS2, ANG, FIG4, FUS, SETX, SOD1, TARDBP, VAPB, VCP.
NGS of 9 genes: APC, BRCA1, BRCA2, MLH1, CDKN2A, MSH2, PALB2, STK11, TP53
NGS of 9 genes: CACNA1C, CACNB2, DPP6, KCND3, KCNE1L, KCNJ8, SCN1B, SCN5A, SCN10A.
NGS of 9 genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
NGS of 90 genes: PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, ANK2, AN
NGS of AHI1, ARL13B, CC2D2A, CEP290, CEP41, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TECT1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21, SF1R genes
NGS of BIN1, DNM2 genes.
NGS of gene 7 panel: ACTA1, CFL2, KBTBD13, NEBN, TNNT1, TPM2, TPM3,
NGS of genes: ALX4, MSX2, RUNX2.
NGS of genes: BLM, GPC3, NBN, NSD1, RAD50, WT1.
NGS of the FKTN and FKRP genes
NGS of3 genes: SMAD3, TGFBR1, TGFBR2 and Detection of large deletions and/ or duplication in genes TGFBR1, TGFBR2 by MLPA
NGS Overgrowth/Macrocephaly Panel
NGS Peroxisome Biogenesis Disorders Panel
NGS RASopathy Panel
NGS Rett / Angelman Syndrome 2nd Tier Sequencing Panel
NGS Rhabdomyolysis and Metabolic Myopathies Panel
NGS Skeletal Dysplasia Panel
NGS Syndromic Autism Panel
NGS Vascular Disorders Panel
NGS X-Linked Intellectual Disability (XLID) Panel (114 genes)
Niemann Pick disease (Niemann-Pick-Krankheit)
Niemann-Pick disease (deletion/duplication analysis of NPC1, NPC2 and SMPD genes)
Niemann-Pick disease (Niemann-Pick-Krankheit)
Niemann-Pick disease (sequence analysis of NPC1 and NPC2 genes)
Niemann-Pick Disease Test
Niemann-Pick Disease Type C Deletion/Duplication Panel
Niemann-Pick Disease Type C Sequencing Panel
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Deletion/Duplication
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing
Niemann-Pick disease typeC test
Niemann-Pick Type C, Full Gene Analysis
NIPBL and SMC1A Sequencing and Del/Dup Panel
Nocturnal frontal lobe epilepsy (NGS panel for 4 genes)
Nocturnal Frontal Lobe Epilepsy, Panel Massive Sequencing (NGS) CHRNA2, CHRNA4, CHRNB2 Gene
Non Dystrophic Myotonias, Panel Massive Sequencing (NGS) 9 Genes
Non syndromic deafness AD (NGS panel of 33 genes)
Non syndromic deafness AD, AR and XL (NGS panel of 79 genes)
Non syndromic deafness AR and XL (NGS panel of 56 genes)
Non-Compaction Cardiomyopathy NGS Panel
Non-dystrophic myotonias (NGS panel for 11 genes)
Non-Ketotic Hyperglycinemia, Glycine Encephalopathy, NKH Test
Non-mitochondrial Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 32 genes)
Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 genes)
Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 99 genes)
Non-Specific ID SequencingPanel
Non-Syndromic Hearing Loss Panel
Non-syndromic Monogenic Obesity Sequencing Panel
Nonsyndromic Hearing Loss and Deafness
Nonsyndromic Hearing Loss and Deafness Deletion/Duplication Panel
Nonsyndromic Hearing Loss and Deafness Sequencing Panel
Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 81 genes)
Noonan Panel
Noonan Spectrum / Rasopathies
Noonan spectrum disorder NGS panel
Noonan Spectrum Disorders (12 gene panel)
Noonan Spectrum Disorders Panel
Noonan Spectrum Disorders Panel (12 genes)
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes
Noonan Spectrum Disorders Panel, Sequencing, 15 Genes, Fetal
Noonan Spectrum Disorders/Rasopathies Deletion/Duplication Panel
Noonan Spectrum Disorders/Rasopathies Sequencing Panel
Noonan Spectrum Sequence Panel 1 for KRAS, PTPN11, RAF1, SOS1, Blood
Noonan Syndrome
Noonan syndrome (Noonan Syndrom)
Noonan Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes)
Noonan syndrome (NGS panel for 5 genes)
Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing
Noonan syndrome (sequence analysis of PTPN11 gene)
Noonan Syndrome , Panel Massive Sequencing (NGS) (PTPN11, SOS1, RAF1, KRAS, BRAF) Genes
Noonan syndrome - 7 genes (NGS panel for BRAF, KRAS, MAP2K1, NRAS, PTPN11, RAF1 and SOS1 genes)
Noonan Syndrome 1 Test
Noonan Syndrome 3 Test
Noonan Syndrome 4 Test
Noonan Syndrome 5 Test
Noonan Syndrome and other genetically related Syndromes (NGS panel for 9 genes, PND)
Noonan Syndrome and Others Related , Prenatal Diagnosis
Noonan Syndrome and Others Related, Panel Massive Sequencing (NGS) 12 Genes
Noonan Syndrome and Related Disorders (RASopathies) NGS Panel
Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood
Noonan Syndrome and Related Disorders: Gene Sequencing Panel
Noonan Syndrome and Related Disorders: Sequencing Panel
Noonan Syndrome Deletion/Duplication Panel
Noonan Syndrome NGS Panel
Noonan Syndrome Panel
Noonan Syndrome Sequencing Panel
Noonan Syndrome/RASopathies Spotlight Panel
Noonan, Leopard, Costello and Cardiofaciocutaneous Syndrome
Noonan/ Costello/ LEOPARD/ Cardiofaciocutaneous Syndrome(s) (RAS/MAPK Pathway) Multi-Gene Panels
Normokalemic Periodic Paralysis Test
NPC1 and NPC2 Deletions/Duplications
NPC1/NPC2 Gene Sequencing
NR5A1 - 46XY sex reversal ; Adrenocortical insufficiency; Premature ovarian failure ; Spermatogenic failure
Nuclear-Mito NGS Panel
nucSEEK Focus
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
 

O 

Obesity (Adipositas)
Obesity genetic testing
Obesity Test
Ocular / Oculocutaneous Albinism
Oculocutaneous Albinism Deletion/Duplication Panel
Oculocutaneous Albinism Sequencing Panel
Oculocutaneous Albinism types 1,2,3,4,7
Oculocutaneous Albinism, Panel Massive Sequencing (NGS) 7 Genes
Ohtahara Syndrome Deletion/Duplication Panel
Oligodontia - Selective tooth agenesis NGS panel
Omenn syndrome (sequence analysis of RAG1 and RAG2 gene)
Omenn Syndrome Deletion/Duplication Panel
Omenn Syndrome Sequencing Panel
Onco48
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 94 Genes
Oncology, Panel
OncoRisk (NGS panel for 49 genes)
OncoRisk Plus (NGS panel for 89 genes)
Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes
OneOme RightMed pharmacogenomic test
OnkoSight AML Panel
OnkoSight Colorectal Cancer Panel
OnkoSight Lung Cancer Panel
OnkoSight MDS Panel
OnkoSight Melanoma Panel
OnkoSight MPN Panel
OnkoSight Myeloid Disorders Panel
OnkoSight Solid Tumor Panel
Onychopatellar Syndrome, Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes
OPA1 Sequence analysis
OPA3 Sequence analysis
Opitz-Kaveggia Syndrome, Panel Massive Sequencing (NGS) CASK, FLNA, MED12 Genes
Optic Atrophy Deletion/Duplication Panel
Optic Atrophy Panel
Optic Atrophy Sequencing Panel
Optic Atrophy Test
Optic Atrophy, Panel Massive Sequencing 4 Genes
Optic Atrophy: Sequencing and Deletion/Duplication Panel
Optic Atrophy: Deletion/Duplication Panel
Optic Atrophy: Sequencing Panel
Oral-Facial-Digital Syndrome Type VI
Organic Acidemia/Aciduria and Cobalamin Deficiency Panel
Organic Acidemias, Panel Massive Sequencing (NGS) 15 Genes
Osler-Rendu-Weber disease (deletion/duplication analysis of ENG and ACVRL1 genes)
Osteochondromatosis Types 1 and 2, Sequencing EXT1 and EXT2 Genes
Osteogenesis Imperfecta
Osteogenesis Imperfecta (Full Panel) , Panel Massive Sequencing (NGS) 12 Genes
Osteogenesis Imperfecta (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)
Osteogenesis imperfecta (Osteogenesis imperfecta)
Osteogenesis imperfecta (panel NGS de 16 genes)
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) (COL1A1,COL1A2) Genes
Osteogenesis Imperfecta and Decreased Bone Density: Deletion/Duplication Panel
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Deletion/Duplication Panel
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Deletion/Duplication Panel
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel
Osteogenesis imperfecta and skeletal dysplasia with decreased bone density Panel
Osteogenesis imperfecta Core NGS Panel
Osteogenesis Imperfecta Molecular Testing
Osteogenesis imperfecta Multi-Gene Panels
Osteogenesis Imperfecta NGS Panel
Osteogenesis imperfecta NGS panel - Dominant
Osteogenesis imperfecta NGS panel - Dominant
Osteogenesis imperfecta NGS panel - Dominant and Recessive
Osteogenesis imperfecta NGS panel - Dominant and Recessive Comprehensive Test
Osteogenesis imperfecta NGS panel - Dominant Comprehensive Test
Osteogenesis imperfecta NGS panel - Recessive
Osteogenesis imperfecta NGS panel - Recessive Comprehensive Test
Osteogenesis Imperfecta Panel
Osteogenesis Imperfecta Spotlight Panel
Osteogenesis Imperfecta Test
Osteogenesis imperfecta type 1 and 2, COL1A1 and COL1A2 genes
Osteogenesis imperfecta type 1, 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes)
Osteogenesis Imperfecta Type 1-4
Osteogenesis imperfecta, type VIII
Osteogenesis Imperfecta: COL1A1 and COL1A2 genes sequence analysis
Osteolysis and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes
Osteopetrosis
Osteopetrosis and Dense Bone Dysplasia NGS panel
Osteopetrosis and Dense bone dysplasia NGS panel Comprehensive Test
Osteopetrosis and Dense Bone Dysplasia Panel
Osteopetrosis core NGS panel
Osteopetrosis NGS Panel
Osteopetrosis NGS panel Comprehensive Test
Osteopetrosis, Autosomal Dominant Only NGS Panel
Osteopetrosis, Panel Massive Sequencing (NGS) 9 Genes
Osteoporosis
Osteoporosis Susceptibility to, Panel Massive Sequencing (NGS) 5 Genes
Osteoporosis Variant Sequencing
Other Arrhythmic Disorders Del/Dup Panel
Otofaciocervical Syndrome Test
Otogenetics Hereditary Cancers (Breast, Gyn, GI)
OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
OtoSCOPE
OtoSeq Hearing Loss Deletion/Duplication Panel
OtoSeq Hearing Loss Panel
OTX2 - Combined Pituitary Hormone Deficiency
OvaNext
Ovarian Cancer
Ovarian Cancer Comprehensive Panel
Ovarian Cancer Focus Panel
Ovarian Cancer Test (genetic predisposition) - panel (CHEK2, NOD2, CYP1B1)
Ovarian Cancer – Basic Diagnostics
Overgrowth and Intellectual Disability NGS Panel
Overgrowth NGS Gene Panel
Overgrowth Syndrome Panel
Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 232 genes + mtDNA)
OXPHOS Defect Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 22 genes + mtDNA)
 

P 

Pachyonychia Congenita Panel
Pachyonychia Congenita, Panel Massive Sequencing (NGS) KRT6A, KRT6B, KRT16, KRT17 Genes
Paediatric Cardiomyopathy NGS Panel
Paget Disease of Bone (PDB) Deletion/Duplication Panel
Paget Disease of Bone (PDB) Sanger Sequencing Panel
Paget disease of bone and related disorders NGS panel
Paget Disease of Bone NGS Panel
Paget Disease of Bone, Panel Massive Sequencing (NGS) SQSTM1, TNFRSF11A, TNFRSF11B Genes
Pain Medication DNA Insight
Pain Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 30 Genes)
PALB2-Related Fanconi Anemia Test
Palmoplantar Keratoderma and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes
Pan Cardiomyopathy Panel
Pan Cardiomyopathy Panel (62 Genes)
Pan Cardiomyopathy Panel Test
Pan-Cardio NGS Panel
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
Pan-European Carrier Screening
PancNext
Pancreatic Cancer
Pancreatic cancer (NGS panel for 3 genes)
Pancreatic cancer (NGS panel for 5 genes)
Pancreatic Cancer Comprehensive Panel
Pancreatic Cancer Deletion/Duplication Panel
Pancreatic Cancer Panel
Pancreatic Cancer Sequencing Panel
Pancreatic Cancer: Deletion/Duplication Panel
Pancreatic Cancer: Sequencing Panel
Pancreatic familial carcinoma (sequence analysis of BRCA1 and BRCA2 genes)
Pancreatitis (Pankreatitis)
Pancreatitis Panel
Pancreatitis Panel (CFTR, PRSS1, SPINK1, CTRC)
Pancreatitis Panel (CTRC, CFTR, PRSS1 and SPINK1) Sequencing
Pancreatitis, chronic (N34S mutation on SPINK gene and R122H and N29I mutations on PRSS1 gene)
Pancreatitis, hereditary (deletion/duplication analysis of PRSS1 and SPINK genes)
Pancreatitis, hereditary (sequence analysis of SPINK1 and PRSS1 genes)
Pancreatitis, Hereditary: PRSS1 gene deletions-duplications analysis (MLPA)
Panexia
PANEXIA Test
Paraganglioma-Pheochromocytoma
Paraganglioma-Pheochromocytoma Cancer Comprehensive Panel
Paragangliomas 1,3 and 4 (deletion/duplication analysis of SDHD, SDHC and SDHB genes)
Parallel study of Spinocerebellar Ataxias SCA1, SCA2, SCA3, SCA6, SCA7
Paramyotonia Congenita of Von Eulenburg Test
Parkin Type of Early-Onset Parkinson Disease Test
Parkinson all Panel
Parkinson Disease
Parkinson disease (NGS panel for 10 genes)
Parkinson disease (NGS panel of 33 genes)
Parkinson disease (Parkinson-Krankheit)
Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes
Parkinson Disease Panel
Parkinson Disease, Deletions-Duplications (MLPA) SNCA, PARK2, PINK1, PARK7, LRRK2, UCHL1, GCH1, ATP13A2 Genes
Parkinson Disease, Early Onset NGS Panel
Parkinson Disease, Sequencing Exons (31 and 41) LRRK2 Gene and Exon 4 PINK1 Gene
Parkinson disease/Parkinsonism (NextGen Sequencing Panel and Copy Number Analysis; 75 genes)
Parkinson Dystonia Panel
Parkinson extended NGS panel
Parkinson Syndrome, Autosomal Dominant Panel
Parkinson Syndrome, Autosomal Recessive Panel
Parkinson, sporadic NGS panel
Parkinson-Alzheimer-Dementia NGS Panel
Paroxysmal Dyskinesia Panel
Paroxysmal Extreme Pain Disorder and Familial Episodic Pain Syndrome, Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A
Paroxysmal Extreme Pain Disorder Test
Paroxysmal Movement Disorders Panel
Partial Lipodystrophy Deletion/Duplication Panel
Partial Lipodystrophy Sequencing Panel
PCDNext - Primary Ciliary Dyskinesia Panel
PDH andMitochondrial RC Complex V Panel (MitomeNGS)
PDH/Tricarboxylic Acid Cycle (TCA) Defects (NextGen Sequencing Panel and Copy Number Analysis; 28 genes + mtDNA)
PDHA1 Sequence analysis
PDHB Sequence analysis
PDHX (Pyruvate DeHydrogenase component E3 binding protein) Sequence analysis
Pelizaeus Merzbacher disease (Pelizaeus-Merzbacher-Krankheit)
Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes
Pendred Syndrome Deletion/Duplication Panel
Pendred Syndrome Panel
PEO Panel (MitomeNGS)
Periodic Fever 5 Gene NGS Panel
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes
Periodic Fever NGS Panel
Periodic Fever Panel
Periodic Fever Syndrome NGS Panel
Periodic Fever Syndrome Spotlight Panel
Periodic Fever Syndromes (PFS) Deletion/Duplication Panel
Periodic Fever Syndromes Deletion/Duplication, 6 Genes
Periodic Fever Syndromes Panel (7 genes)
Periodic Fever Syndromes Panel, Sequencing (7 Genes) and Deletion/Duplication, (6 Genes)
Periodic Fever Syndromes Sequencing Panel
Periodic Fever Syndromes Sequencing, 7 Genes
Periodic Palsy
Periodic Paralysis Mutation Screen
Periodic Paralysis Panel
Periodic Paralysis Spotlight Panel
Peripheral Nerve Sheath Tumor NGS panel
Peripheral Neuropathy Expanded Panel
Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia Test
Permanent Neonatal Diabetes Mellitus, Panel Massive Sequencing (NGS) 17 Genes
Peroxisomal and Lysosomal Diseases, Panel Massive Sequencing (NGS) 80 Genes
Peroxisomal Beta-Oxidation Defects NGS Panel
Peroxisomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 32 Genes)
Peroxisomal Disorder Panel
Peroxisomal Disorders Deletion/Duplication Panel
Peroxisomal disorders panel
Peroxisomal Disorders Sequencing Panel
Peroxisomal Disorders, Comprehensive NGS Panel
Peroxisomal NGS Panel
Peroxisome biogenesis disorder/ Zellweger syndrome (Perosxysomale Erkrankungen /Zellweger)
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Deletion/Duplication Panel
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel
Perrault Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Persian Jewish Mutation Panel
Persistent Mullerian duct syndrome (Müller-Gang-Persistenzsyndrom)
Peters anomaly (Peters Anomalie)
Peters Anomaly Test
Pfeiffer syndrome
Pfeiffer Syndrome (FGFR1 and FGFR2)
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
Pfeiffer Syndrome Panel
Pfeiffer Syndrome, Sequencing Exon (7) FGFR1 Gene and Exons (7-8, 13-15) FGFR2 Gene
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel
PGLFirst - Hereditary PGL/PCC Panel
PGLNext - Hereditary PGL/PCC Panel
Pharmacogenetic Panel Anticoagulants, Sequencing (CYP2C9, VKORC1) Genes
Pharmacogenetic panel for cardiology
Pharmacogenetic Panel, Sequencing (CYP2D6, CYP3A5, CYP2C9, CYP2C19) Genes
Pharmacogenetic Panel, Sequencing (CYP2D6, CYP3A5, CYP2C9, CYP2C19,VKORC1) Genes
Pharmacogenetic Status
Pharmacogenetics and individual dosing of Sintrom (Acenocoumarol)
Phenylketonuria Test
Pheochromocytoma (Phäochromozytom)
Pheochromocytoma and Paraganglioma Panel
Pheochromocytoma-Paraganglioma: Deletion/Duplication Panel
Pheochromocytoma-Paraganglioma: Sequencing Panel
Pheochromocytomas (NGS panel for 3 genes)
Pheochromozytoma-Paraganglioma syndrome
Piebaldism, Deletions-Duplications (MLPA) KIT, SNAI2 Genes
Piebaldism, Panel Massive Sequencing (NGS) KIT, SNAI2 Genes
Pigmented Nodular Adrenocortical Disease
Pitt-Hopkins syndrome (Pitt-Hopkins Syndrom)
Pituitary hormone deficiency (Hypophysen-Hormon-Mangel)
Plasminogen Activator Inhibitor-1 Deficiency Test
Platelet bleeding disorders NGS panel
Platelet bleeding disorders NGS panel Comprehensive Test
Platelet Function Disorder Deletion/Duplication Panel
Platelet Function Disorder Panel
Platelet Function Disorder Sequencing Panel
Platelet Function Related Disorders, Panel Massive Sequencing (NGS) 17 Genes
Platelets, Coagulation Disorders Panel
PLP1-Related Disorders Test
PMEFirst - Progressive Myoclonus Epilepsy Panel
PMENext - Progressive Myoclonus Epilepsy Panel
PMS2 Gene Analysis
Pol III-Related Leukodystrophy (4H leukodystrophy)
POLD1 and POLE- Related Cancer Test
POLG Sequence analysis
Polycystic Kidney
Polycystic kidney disease (deletion/duplication analysis of PKD1 and PKD2 genes)
Polycystic Kidney Disease (NextGen Sequencing Panel and Copy Number Analysis; 4 genes)
Polycystic kidney disease (NGS panel for 3 genes)
Polycystic kidney disease 1, AD (sequence analysis of PKD1 and PKD2 genes)
Polycystic kidney disease AD (sequence analysis of PKD1 gene)
Polycystic Kidney Disease NGS Panel
Polycystic Kidney Disease Panel
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Sequencing Panel
Polycystic Liver Disease
Polycystic Liver Disease (PLD) Deletion/Duplication Panel
Polycystic Liver Disease (PLD) Sequencing Panel
Polycystic Liver Disease Panel
Polymicrogyria
Polymicrogyria Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel
Polymicrogyria and Related Disorders, Panel Massive Sequencing (NGS) 10 Genes
Polymicrogyria NGS Panel
Polymicrogyria Panel
Polymicrogyria Sequencing Panel
Polymicrogyria, Symmetric or Asymmetric Test
Polyposis Coli
Polyposis Syndromes
POMC - ACTH Deficiency
Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia NGS Panel
Pontocerebellar Hypoplasia Panel
Pontocerebellar hypoplasia type 2 / type 4
Pontocerebellar Hypoplasia, Panel Massive Sequencing (NGS) 8 Genes
Porencephaly NGS panel
Porencephaly Test
Porencephaly, Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes
Porphyria (deletion/duplication on FECH, UROS, UROD and CPOX genes)
Porphyria (Porphyrie)
Porphyria Cutanea Tarda Test
Porphyria Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)
Porphyria Multi-Gene Panels
Porphyria Panel
Porphyria Related Diseases, Panel Massive Sequencing (NGS) 7 Genes
Porphyria Spotlight Panel
Porphyria: Sequencing panel
Posterior Polymorphous Corneal Dystrophy, Panel Massive Sequencing (NGS) OVOL2, COL8A2, ZEB1
Potentially lethal skeletal disorders Panel
POU1F1 - Combined Pituitary Hormone Deficiency
PPT1-Related Neuronal Ceroid-Lipofuscinosis Test
Prader Willi syndrome
Prader Willi/Angelman syndrome MS-PCR
Prader-Willi syndrome (Prader-Willi Syndrom)
Predominantly antibody deficiencies: recurrent bacterial infections - normal values of IgA, IgG and IgM antibodies (NGS panel of 2 genes)
Predominantly antibody deficiencies: recurrent bacterial infections - reduction of IgG, IgA and normal or increased IgM (HIGM) (NGS panel of 5 genes)
Predominantly antibody deficiencies: recurrent bacterial infections – all subtypes (NGS panel of 28 genes)
Predominantly antibody deficiencies: recurrent bacterial infections – significant reduction of IgG, IgA and/or IgM antibodies (NGS panel of 20 genes)
Premature Ovarian Failure (POF) and Related Disorders, Panel Massive Sequencing (NGS) 15 Genes
Premature Ovarian Failure Panel
Premature Ovarian Failure Sequencing Panel
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis
Prenatal Anophthalmia/Microphthalmia Panel and Del/Dup
Prenatal Holoprosencephaly Panel and Del/Dup
Prenatal Noonan Spectrum Disorders Panel
Prenatal Noonan Syndrome and Related Conditions Panel (CardioGeneSeq)
PreSeek Non-invasive Prenatal Gene Sequencing Screen
Primary Aldosteronism Sequencing Panel
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes)
Primary Autosomal Recessive Microcephaly and Microcephalic Dwarfism Multi-Gene Panels
Primary Biliary Cirrhosis, Panel Massive Sequencing (NGS) 6 Genes
Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (NGS panel for 27 genes)
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Deletion/Duplication Panel
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Deletion/Duplication Panel
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel
Primary Ciliary Dyskinesia Panel
Primary Ciliary Dyskinesia, Panel Massive Sequencing (NGS) 16 Genes
Primary Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 18 genes)
Primary Familial Brain Calcification , Panel Massive Sequencing (NGS) (SLC20A2, PDGFRB, PDGFB) Genes
Primary Hyperoxaluria
Primary hyperoxaluria (NGS panel of 3 genes)
Primary Hyperoxaluria Deletion/Duplication Panel
Primary Hyperoxaluria Panel
Primary Hyperoxaluria Sequencing Panel
Primary Hyperoxaluria, Panel Massive Sequencing (NGS) AGXT, GRHPR, HOGA1 Genes
Primary Immunodeficiency Gene Panel
Primary Immunodeficiency Panel
Primary Microcephaly, Autosomal Recessive, Deletion/Duplication Panel
Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel
Primary Open Angle Glaucoma Panel-NGS
Primary Open Angle Glaucoma Test (the MYOC/TIGR gene-entire; the OPTN gene-the most common mutation)
Primary Periodic Paralysis Deletion/Duplication Panel
Primary Periodic Paralysis Sequencing Panel
Primary Pigmented Nodular Adrenocortical Disease, Panel Massive Sequencing (NGS) PDE11A and PDE8B Genes
Primary Torsion Dystonia Panel
Primordial Dwarfism (AKA MOPD) NGS Panel
Primordial Dwarfism and Related Disorders, Panel Massive Sequencing (NGS) 12 Genes
Primordial Dwarfism NGS Panel
Progeria and Progeroid Syndromes Panel
Progeria syndrome/Hutchinson-Gilford (Progerie/ Hutchinson-Gilford)
Progeria syndromes Panel
Progressive and non-progressive ataxia
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
Progressive External Ophthalmoplegia, Panel Massive Sequencing (NGS) 7 Genes
Progressive familial intrahepatic cholestasis (NGS panel for 4 genes)
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Deletion/Duplication Panel
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel
Progressive Familial Intrahepatic Cholestasis NGS Panel
Progressive Myoclonic Epilepsy
Progressive Myoclonic Epilepsy (EPM2A)
Progressive Myoclonic Epilepsy Panel
Prolaris® Test
Proopiomelanocortin Deficiency Test
PROP1 - Combined Pituitary Hormone Deficiency
Propionic Acidemia (PA): PCCA and PCCB Gene Deletion/Duplication
Propionic Acidemia (PA): PCCA and PCCB Gene Sequencing
Propionic Acidemia Deletion/Duplication Panel
Propionic Acidemia NGS Panel
Propionic Acidemia Panel
Propionic Acidemia Panel Del/Dup Analysis
Propionic Acidemia Panel Sequence and Del/Dup
Propionic Acidemia Sequencing Panel
Propionic acidemia test
Propionic Acidemia, Panel Massive Sequencing (NGS) PCCA,PCCB Genes
Propionicacidemia (Propionazidämie)
Propionicacidemia: Full gene panel sequencing (Rapid testing)
Proportional dwarfism (Proportionaler Minderwuchs)
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, Sequencing and Deletion/Duplication Panel
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Sequencing, and Deletion/Duplication Panel
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, Sequencing, and Deletion/Duplication Panel
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel
Proportionate Short Stature/Small for Gestational Age: Sequencing Panel
Proportionate Short Stature/Small for Gestational Age: SNP Array, Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel
Prostate Cancer Comprehensive Panel
Prostate Cancer Focus Panel
Prostate Cancer Panel
Prostate Cancer Test (genetic predisposition ) - panel (CHEK2 - four mutations, BRCA1, NBS1)
Prostate cancer: Sequencing Panel
ProstateNext
Prothrombin-Related Thrombophilia Test
Proximal Urea Cycle Disorders Panel-NGS
PRSS1-Related Hereditary Pancreatitis Test
Pseudohypoaldosteronism (Pseudohypoaldosteronismus)
Pseudohypoaldosteronism Panel
Pseudohypoaldosteronism Type 1 NGS Panel
Pseudohypoaldosteronism Type 2 NGS Panel
Pseudohypoaldosteronism Type II Deletion/Duplication Panel
Pseudohypoaldosteronism Type II Sequencing Panel
Pseudohypoaldosteronism, Panel Massive Sequencing (NGS) 9 Genes
Pseudohypoparathyroidism Type IA Test
Pseudoxanthoma elasticum NGS panel
Pseudoxanthoma Elasticum, Panel Massive Sequencing (NGS) 6 Genes
PSTPIP1 - Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
PUCD Deletion/Duplication Analysis
PUCD NGS and Deletion/Duplication Analysis
PulmoGene Panel (64 Genes)
Pulmonary Alveolar Proteinosis Panel
Pulmonary Arterial Hypertension (PAH) Panel
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication, Multigene
Pulmonary Arterial Hypertension (PAH) Sequencing, Multigene
Pulmonary Arterial Hypertension Panel
Pulmonary Arterial Hypertension: Sequencing Panel
Pulmonary Disease: Comprehensive Sequencing Extended Panel
Pulmonary Disease: Comprehensive Sequencing Panel
Pulmonary Disease: Deletion/Duplication Panel
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Deletion/Duplication Panel
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel
Pulmonary Fibrosis-Hermansky-Pudlak Panel (21 Genes)
Pulmonary Hypertension NGS Panel
Pulmonary Hypertension Panel (5 Genes)
Pulmonary Hypertension: Deletion/Duplication Panel
Pulmonary Hypertension: Sequencing Panel
Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes)
Pulmonary Surfactant Metabolism Dysfunction Test
Pure Hereditary Spastic Paraplegia Deletion/Duplication Panel
Pure Hereditary Spastic Paraplegia Sequencing Panel
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive Test (GLRX5, SLC25A38 gene)
Pyruvate carboxylase deficiency test
Pyruvate Dehydrogenase Complex Deficiency Deletion/Duplication Panel
Pyruvate Dehydrogenase Complex Deficiency Panel
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel
Pyruvate Dehydrogenase Deficiency
Pyruvate Dehydrogenase Deficiency, Panel Massive Sequencing (NGS) 5 Genes
Pyruvate Metabolism Disorders (NextGen Sequencing Panel and Copy Number Analysis; 14 genes + mtDNA)
 

Q 

QT-Long Syndrome
 

R 

RAG1/RAG2 Gene Sequencing
Rapid-Onset Dystonia-Parkinsonism Test
RAPSN-Related Congenital Myasthenic Syndrome Test
RAS mutation analysis (KRAS, NRAS) - Colorectal Cancer
RASopathies
RASopathies Panel
RASopathy (RASopathien)
RBC Enzymopathies (NGS panel of 14 genes)
RC Complex II Deficiency Panel (MitomeNGS)
RC Complex III Deficiency Panel (MitomeNGS)
RC Complex IV Deficiency Panel (MitomeNGS)
RC Complex V Deficiency Panel (MitomeNGS)
Recurrent acute liver failure panel
Red Blood Cell Enzymopathy Deletion/Duplication Panel
Red Blood Cell Enzymopathy Panel
Red Blood Cell Membrane Disorder Panel
Red Blood Cell Membrane Disorders Deletion/duplication panel
Red Blood Cell Membrane Disorders Panel
Red Cell Genotyping - Common Panel
Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
Reflex Del/Dup Testing after Hyperammonemia Panel
Reflex Del/Dup Testing After MMA and Related Disorders Panel
Refsum disease (Refsum Krankheit)
Refsum Disease NGS Panel
Refsum Disease Panel
Refsum Disease, Panel Massive Sequencing (NGS) 5 Genes
Renal / Urinary Cancer Comprehensive Panel
Renal Cancer
Renal Cancer Deletion/Duplication Panel
Renal Cancer Panel
Renal Cancer Sequencing Panel
Renal Cancer: Deletion/Duplication Panel
Renal Cancer: Sequencing Panel
Renal cell cancer (Nierenzellkarzinom)
Renal Cell Carcinoma Panel
Renal Cystic Disorders Sequencing Panel
Renal Cysts and Diabetes Syndrome Test
Renal Dysplasia, Renal Agenesia, CAKUT Panel
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes
Renal Malformation Panel
Renal Tubular Acidosis Panel
Renal tubular acidosis, distal, AR (NGS panel for 3 genes)
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1 Genes
Renal Tubular Dysgenesis
Renal Tubular Dysgenesis Panel
Renal/Kidney NGS Panel
RenalNext
Rendu-Osler-Weber disease, NGS panel
Research Institute of the McGill University Health Center, Braverman Labroatory
Restrictive Cardiomyopathy (RCM) Panel
Restrictive Cardiomyopathy NGS Panel
Restrictive Cardiomyopathy, Panel Massive Sequencing (NGS) 4 Genes
Retina/Photoreceptor Dystrophy: Deletion/Duplication Panel
Retina/Photoreceptor Dystrophy: Sequencing Panel
Retinal Dystrophy Panel
Retinitis Pigmentosa (Complete Panel), Panel Massive Sequencing (NGS) 57 Genes
Retinitis pigmentosa (delection/duplication analysis on BEST1 and PRPH2 genes)
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel
Retinitis pigmentosa (NGS panel for 55 genes)
Retinitis pigmentosa (Retinitis pigmentosa)
Retinitis Pigmentosa A.D
Retinitis Pigmentosa A.R.
Retinitis Pigmentosa Deletion/Duplication Panel
Retinitis Pigmentosa NGS Panel
Retinitis Pigmentosa Panel
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes)
Retinitis pigmentosa, AR (NGS panel for AIPL1, BEST1, CA4, CRX, GUCA1B, FSCN2, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200 and TOPORS genes)
Retinitis pigmentosa, AR and X-linked (NGS panel for 54 genes)
Retinitis Pigmentosa, Autosomal Dominant and X-Linked Panel
Retinitis Pigmentosa, Autosomal Recessive and X-Linked Panel
Retinitis Pigmentosa/Leber Congenital Amaurosis Deletion/Duplication, 53 Genes
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes
Retinitis Pigmentosa/Leber Congenital Amaurosis Sequencing, 53 Genes
Retinitis Pigmentosa: Deletion/Duplication Panel
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel
Retinitis Pigmentosa: Sequencing Panel
Retinoschisis (Retinoschisis)
Rett plus Atypical Rett Syndrome NGS Panel
Rett syndrome (Rett Syndrom)
Rett Syndrome NGS Panel
Rett Syndrome, Panel Massive Sequencing (NGS) 18 Genes
Rett-Angelman NGS Panel
Rett/Angelman Syndrome Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel
Rett/Angelman Syndrome Panel
Rett/Angelman Syndrome Sequencing Panel
Rett/AngelmanNext (Rett and Angelman Syndromes)
Rett/Atypical Rett Syndrome Panel
Rhabdoid Tumor Predisposition Syndrome 1 Test
Rhabdomyolysis Spotlight Panel
Rhabdomyolysis: Sequencing Panel
Rhabdomyolysis: Tier 1 Panel
Rhabdomyolysis: Tier 2 Panel
Rheumatoid Type Osteoarthropathy and Related Disorders, Panel Massive Sequencing (NGS) 7 Genes
Rhizomelic Chondrodysplasia Punctata NGS Panel
Rhizomelic Chondrodysplasia Punctata Sequencing Panel
RhythmFirst
RhythmNext
Rickets (NGS panel for 10 genes)
Roberts Syndrome Test
Robinow syndrome (Robinow Syndrom)
Robinow syndrome NGS panel
Rotor Syndrome Deletion/Duplication Panel
Rotor Syndrome Sanger Sequencing Panel
Rotor Syndrome, Panel Massive Sequencing (NGS) SLCO1B1 and SLCO1B3 Genes
RPGR - Retinitis Pigmentosa and and sinorespiratory infections ; Primary ciliary dyskinesia
RRM2B Sequence analysis
RSPH4A - Primary Ciliary Dyskinesia, CILD11
RSPH9 - Primary Ciliary Dyskinesia, CILD12
RT-PCR t(5;17)(q35;q21) NPM/RARA
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome (Rubinstein-Taybi Syndrom)
Rubinstein-Taybi syndrome (sequence analysis of CREBBP and EP300 genes)
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Deletion/Duplication Panel
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel
Rubinstein-Taybi Syndrome NGS Panel
Rubinstein-Taybi Syndrome Test
Rubinstein-Taybi Syndrome, Panel Massive Sequencing (NGS) CREBBP, EP300 Genes
Russell Silver Syndrome
Russell Silver syndrome test
Russell-Silver Syndrome
 

S 

Saethre-Chotzen Syndrome
Saethre-Chotzen syndrome (SCS)
Saethre-Chotzen syndrome (sequence analysis of TWIST1 gene)
Saethre-Chotzen Syndrome Panel
Sanfilippo/MPSIII Sequencing Panel
Sanger sequencing of 13 exon of the SCNN1B and SCNN1G genes
Sanger sequencing of KRT81 and KRT86 genes
Sanger sequencing of the KRT10 and KRT1 genes
Sanger sequencing of the SHH and SIX3 genes
Sanger sequencing of the TSC1 and TSC2 genes
Sarcoglycan Full Gene Sequencing Analysis Panel (4 genes)
Sarcoglycan Panel MLPA Duplication/Deletion Analysis (4 genes)
Sarcoglycanopathies (NGS panel for 5 genes)
Sarcoglycanopathies, Panel Massive Sequencing (NGS) 5 Genes
Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Deletion/Duplication
Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Sequencing
Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Deletion/Duplication
Sarcoglycanopathy Panel: SGCG, SGCA, SGCB, and SGCD Gene Sequencing
Sarcoma Cancer Comprehensive Panel
SCA Panel (Types 1, 2, 3, 6, 7, 8, 10, 12, 17)
SCA test
SCG5/GREM1 targeted duplication testing (founder mutation)
Schizencephaly, Panel Massive Sequencing (NGS) 4 Genes
Schwannomatosis Sequencing Panel
Schwannomatosis, Panel Massive Sequencing (NGS) 7 Genes
Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes)
Sclerosing Bone Dysplasia
SCN1A-Related Seizure Disorders Test
SCN4A GENE RELATED TEST
SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus Test
SCN9A-Related Inherited Erythromelalgia Test
Screening of frequent mutations in the TPM2, TNNI2 and TNNT3 genes
Screening of the most frequent mutations in the TNNI2 and TNNT3 genes
SDHA Sequence analysis
SDHAF1 Sequence analysis
SDHB Sequence analysis
SDHB, SDHC and SDHD Del/Dup
SDHB, SDHC, SDHD Gene Panel
Seckel Syndrome
Seckel syndrome (Seckel Syndrom)
Seckel Syndrome 1 Test
Seckel Syndrome Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) Panel
Seckel Syndrome NGS Panel
Seckel Syndrome Panel
Seckel Syndrome Sequencing Panel
Seckel Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Segmental Overgrowth Disorders, somatic mutation analysis
Selected Genetic Syndromes with Seizures Panel
Selected Genetic Syndromes with skeletal involvement Panel
Senior Loken Syndrome Panel
Senior-Loken syndrome (NGS panel for 5 genes)
Senior-Loken Syndrome Multi-Gene Panels
Senior-Loken Syndrome NGS Panel
Senior-Loken Syndrome Panel
Senior-Loken Syndrome: Deletion/Duplication Panel
Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel
Senior-Loken Syndrome: Sequencing Panel
Sensory and Autonomic Neuropathies (HSAN) / Pain-channelopathies, NGS-panel
Septo-optic Dysplasia NGS Panel
Septo-Optic Dysplasia Panel
Septo-Optic Dysplasia, Panel Massive Sequencing (NGS) 9 Genes
Septooptic Dysplasia (Septooptische Dysplasie)
Septooptic Dysplasia Test
Sequencing of APOE, CLU, CYP2D6 and HFE
Serotonin Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes)
Serotonin Metabolism Deficiency NGS Panel
Serotonin Metabolism Deficiency, Panel Massive Sequencing (NGS) 17 Genes
Serotonin Receptor Genotype (HTR2A and HTR2C)
SERPINE-1 genotyping
Severe Combined Immune Deficiency (SCID), Panel Massive Sequencing (NGS) 18 Genes
Severe Combined Immunodeficiency (SCID) B+/B-: Deletion/Duplication Panel
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel
Severe Combined Immunodeficiency (SCID) B+: Deletion/Duplication Panel
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel
Severe Combined Immunodeficiency (SCID) B-: Deletion/Duplication Panel
Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel
Severe Combined Immunodeficiency (SCID) Panel, Sequencing and Deletion/Duplication, 19 Genes
Severe Combined Immunodeficiency Deletion/Duplication Panel
Severe Combined Immunodeficiency NGS Panel
Severe Combined Immunodeficiency Panel
Severe combined immunodeficiency, HLA class II-negative: RFX5 gene sequence analysis
Severe congenital neutropenia (NGS panel for 7 genes)
Severe Congenital Neutropenia Deletion/Duplication Panel
Severe Congenital Neutropenia Gene Set
Severe Congenital Neutropenia NGS Panel
Severe Congenital Neutropenia Nonsyndromic NGS Panel
Severe Congenital Neutropenia Panel
Severe Congenital Neutropenia Sequencing Panel
Severe Congenital Neutropenia, Panel Massive Sequencing (NGS) 9 Genes
Severe Myoclonic Epilepsy (Dravet Syndrome), Panel Massive Sequencing (NGS) 13 Genes
Severe Obesity (Susceptibility to), Panel Massive Sequencing (NGS) 19 Genes
Severe Recessive Childhood Diseases
SFTPC - Surfactant metabolism dysfunction
Short QT NGS Panel
Short QT Panel
Short QT syndrome (NGS panel for 5 genes)
Short QT Syndrome (SQTS) Gene Set
Short QT Syndrome (SQTS) Panel
Short QT syndrome - 5 genes (NGS panel for KCNQ1, KCNH2, KCNJ2, CACNA1C and CACNB2 genes)
Short QT Syndrome Deletion/Duplication Panel
Short QT Syndrome NGS Panel
Short QT Syndrome Sequencing Panel
Short QT Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel
Short Rib Skeletal Dysplasia Deletion/Duplication Panel
Short Rib Skeletal Dysplasia Sequencing Panel
Short Stature NGS Panel
Short Stature Spotlight Panel
Short Stature, Autosomal Recessive NGS Panel
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Test
Short-rib dysplasia Panel
SHOX-Related Haploinsufficiency Disorders Test
Sideroblastic Anemia, Panel Massive Sequencing (NGS) 6 Genes
Silver-Russel syndrome (deletion/duplication analysis of 11p15 and methylation analysis of DMR1 (H19) and DMR2 (KCNQ1OT1) regions)
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel syndrome (Simpson-Golabi-Behmel Syndrom)
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel
Simultaneous analysis of FII, FV and MTHFR
Simultaneous analysis of FII, FV, MTHFR and SERPINE1
Sinus node syndrome (NGS panel for 3 genes)
Sitosterolemia NGS Panel
Sitosterolemia Sequencing Panel
Sitosterolemia, Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes
Skeletal Dysplasia
Skeletal dysplasia (NGS panel for 31 genes)
Skeletal Dysplasia - short stature and congenital joint dislocation NGS panel
Skeletal Dysplasia - short stature and congenital joint dislocation NGS panel Comprehensive Test
Skeletal dysplasia ciliopathy NGS panel
Skeletal dysplasia ciliopathy NGS panel Comprehensive Test
Skeletal Dysplasia core and extended NGS panel
Skeletal Dysplasia core and extended NGS panel Comprehensive Test
Skeletal Dysplasia core NGS panel
Skeletal Dysplasia Core NGS Panel Comprehensive Test
Skeletal Dysplasia extended NGS panel
Skeletal Dysplasia Extended NGS Panel Comprehensive Test
Skeletal Dysplasia Multi-Gene Panel
Skeletal Dysplasia Panel, Deletion/Duplication, 36 Genes
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal
Skeletal Dysplasia Panel, Sequencing, 39 Genes
Skeletal dysplasia with abnormal mineralization Panel
Skeletal dysplasia with increased bone density Panel
Skeletal Dysplasia With Increased Bone Density: Deletion/Duplication Panel
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel
Skeletal Dysplasia: Deletion/Duplication Panel
Skeletal Dysplasia: Sequencing Panel
Skeletal Dysplasias NGS Panel
Skeletal Dysplasias, Panel Massive Sequencing (NGS) 36 Genes
Skin Diseases Panel
SLC40A1-Related Hereditary Hemochromatosis Test
SMA
SMAD4
SMAD4-Related Hereditary Hemorrhagic Telangiectasia Test
Small Vessel Disease Panel
Smith-Magenis syndrome (deletion/duplication analysis on RAI1 gene)
SOD1-Related Amyotrophic Lateral Sclerosis Test
Solid Tumor Gene Set
Somatic Cancer Panel
Somatic Myelofibrosis, Panel Massive Sequencing (NGS) 4 Genes
Somatic Overgrowth Gene Set
Somatic Tumor Panel
Sotos syndrome (Sotos Syndrom)
SOX2 - Syndromic Microphthalmia
SOX3 - combined pituitary hormone deficiency
Spastic Ataxia (Spastische Ataxie)
Spastic Paraplegia (NextGen Sequencing Panel and Copy Number Analysis; 60 Genes + mtDNA)
Spastic Paraplegia (Spastische Paraplegie)
Spastic Paraplegia 31: REEP1 gene sequence analysis
Spastic paraplegia 3A and 4 (SPG3A/SPG4, deletion/duplication analysis of ATL1 and SPAST genes)
Spastic Paraplegia 4: SPG4 gene deletions/duplications (MLPA) analysis
Spastic Paraplegia A.D.
Spastic paraplegia hereditary (NGS panel for 43 genes)
Spastic paraplegia hereditary AD (NGS panel for 10 genes)
Spastic paraplegia hereditary AR, X-linked (NGS panel of 33 genes)
Spastic Paraplegia Neuropathy Panel
Spastic Paraplegia NGS Panel
Spastic Paraplegia Panel
Spastic Parplegia A.R
Spermatogenic failure (Spermatogenese-Defekt)
Spermatogenic Failure, Panel Massive Sequencing (NGS) 9 Genes
Spherocytosis
Spherocytosis (Sphärozytose)
Spherocytosis/Elliptocytosis Deletion/Duplication Panel
Spherocytosis/Elliptocytosis Sequencing Panel
Spina bifida (Spina bifida Neuralrohrdefekt)
Spinal muscular atrophy
Spinal Muscular Atrophy (NextGen Sequencing Panel and Copy Number Analysis; 17 genes)
Spinal muscular atrophy (NGS panel for 21 genes)
Spinal Muscular Atrophy (SMA) Copy Number Analysis
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal
Spinal Muscular Atrophy (SMA) Panel
Spinal Muscular Atrophy (SMN1) Test
Spinal Muscular Atrophy (SMN1/SMN2) MLPA Duplication/Deletion Analysis
Spinal muscular atrophy (Spinale Muskelatrophie)
Spinal Muscular Atrophy , Deletions-Duplications (MLPA) SMN1 and SMN2 Genes
Spinal Muscular Atrophy - SMA
Spinal Muscular Atrophy and related Disorders,l Panel Massive Sequencing (NGS) 19 Genes
Spinal Muscular Atrophy Carrier Screen
Spinal Muscular Atrophy Diagnostic Test
Spinal Muscular Atrophy Panel
Spinal muscular atrophy test
Spinal Muscular Atrophy Type 1
Spinal Muscular Atrophy, Proximal Motor Neuropathy
Spinocerbellar Ataxia (Spinozerebelläre Ataxie), Fragment Panel
Spinocerebellar Ataxia
Spinocerebellar Ataxia (Spinozerebelläre Ataxie), Sequencing Panel
Spinocerebellar ataxia 8 (SCA8, CTG/CAG expansion on ATXN80S/ATXN8 gene)
Spinocerebellar Ataxia Panel
Spinocerebellar Ataxia Panel Test
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia, autosomal dominant
Spinocerebellar ataxias SCA1, SCA2, SCA3 and SCA6 (CAG expansion on genes ATXN1, ATXN2, ATXN3 and CACNA1A)
Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP)
Spondylo-Epi-Metaphyseal dysplasias
Spondylocostal Dysostosis Deletion/Duplication Panel
Spondylocostal Dysostosis NGS Panel
Spondylocostal Dysostosis Sequencing Panel
Spondyloepimetaphyseal dysplasia with joint laxity NGS panel
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel
Sports Peformance Panel
SQTS Sequencing Panel
Stargardt Del/Dup Panel
Stargardt Disease
Stargardt Disease (Complete Panel) , Panel Massive Sequencing (NGS) 12 Genes
Stargardt Disease (STGD) and Macular Dystrophies Deletion/Duplication Panel
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel
Stargardt Disease 3 Test
Stargardt disease and macular distrophy (NGS panel for 14 genes)
Stargardt Disease and Macular Dystrophies Panel
Stargardt disease, NGS panel
Stargardt Disease, Panel Massive Sequencing (NGS) 5 Genes
Stargardt Sequencing Panel
Stargardt Syndrome
Startle disease NGS panel
Startle Disease, Deletions-Duplications (MLPA) GLRA1,GLRB,SLC6A5 Genes
Startle Disease, Panel Massive Sequencing (NGS) 5 Genes
STAT Epilepsy Panel
STAT5B - Growth Hormone Insensitivity with Immunodeficiency
Steroid Resistant Nephrotic Syndrome NGS Panel
Steroid-Resistant Nephrotic Syndrome NGS Panel
Stickler Syndrome
Stickler Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes)
Stickler syndrome (NGS panel for 5 genes)
Stickler syndrome (Stickler Syndrom)
Stickler Syndrome / High Myopia
Stickler syndrome Core NGS Panel
Stickler Syndrome Deletion/Duplication Panel
Stickler Syndrome NGS Panel
Stickler syndrome NGS Panel - Recessive
Stickler Syndrome NGS panel Comprehensive Test
Stickler Syndrome Panel
Stickler Syndrome Sequencing Panel
Stickler Syndrome Test
Stickler Syndrome, Panel Massive Sequencing (NGS) 5 Genes
Stickler Syndrome: Deletion/Duplication Panel
Stickler Syndrome: Sequencing Panel
Storage and Energetic Metabolism Diseases, Panel Massive Sequencing (NGS) 84 Genes
Stuttering Deletion/Duplication Panel
Stuttering Sequencing Panel
Stuve-Wiedemann syndrome (Stüve-Wiedemann Syndrom)
SUCLA2 Sequence analysis
Sudden Cardiac Arrest (SCA): Sequencing and Deletion/Duplication Panel
Sudden Cardiac Arrest (SCA): Deletion/Duplication Panel
Sudden Cardiac Arrest (SCA): Sequencing Panel
Sudden Cardiac Arrest Arrhythmia Sequencing Panel
Sudden cardiac arrest panel
Sudden death (Plötzlicher Herztod)
Sudden Death Syndrome NGS Panel
SURF1 Sequence analysis
Surfactant Dysfunction Panel
Surfactant NGS Panel
Susceptibility to Drugs (5-Fluoruracil), Sequencing DPYD Gene and Genotype (2R/2R,2R/3R,3R/3R) TYMS Gene
Susceptibility to Drugs, Sequencing CYP2D6 and CYP2C19 Genes
Susceptibility to Drugs, Sequencing CYP2D6 and CYP2C9 Genes
Susceptibility to Drugs, Sequencing ESR1 and ESR2 Genes
Susceptibility to warfarin (CYP2C9 and VKORC1 genes)
Syndromes with Immunodeficiency Panel
Syndromic and non syndromic deafness (NGS panel of 127 genes)
Syndromic and nonsyndromic paraplegias (NGS panel for 27 genes)
Syndromic Congenital Muscular Dystrophy NGS Panel
Syndromic Congenital Muscular Dystrophy Panel
Syndromic Craniosynostosis
Syndromic Craniosynostosis, Panel Massive Sequencing (NGS) 9 Genes
Syndromic deafness (NGS panel of 62 genes)
Syndromic Disorders
Syndromic Hearing Loss Panel
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 221 genes)
Syndromic Macrocephaly/Overgrowth Panel
Synpolydactyly, Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes
 

T 

t(12;21) ETV6/RUNX1 (TEL/AML1)
t(15;17) PML/RARa
t(8;21) RUNXT1/RUNX1 (ETO/AML1)
t(9;22) BCR/ABL1/ASS1
TAADNext - Thoracic Aortic Aneurysms and Dissections Panel
TARDBP-Related Amyotrophic Lateral Sclerosis Test
Targeted Colorectal Tumor Mutation: Sequencing Panel
Targeted Gastric Tumor Mutation: Sequencing Panel
Targeted Lung Tumor Mutation: Sequencing Panel
Targeted Melanoma Mutation: Sequencing Panel
Targeted Ovarian Tumor Mutation: Sequencing Panel
Targeted Somatic Cancer Panel Sequencing (TSP50)
Targeted Somatic Panel Sequencing (TSP22)
Targeted Tumor Mutation (Lung, Colon, Melanoma, Gastric, Ovarian): Sequencing Panel
Targeted Tumor Mutation: Sequencing Panel
Tay-Sachs Carrier Testing (Serum)
Tay-Sachs Carrier Testing (WBC)
Tay-Sachs Disease Test
TCA Cycle NGS Panel
Teenager Stroke / Stroke-Like Episodes
Telangiectasia, hereditary hemorrhagic/Osler-Rendu-Weber disease (Osler-Rendu-Weber-Krankheit, HämorrhagischeTeleangiektasie)
Telomere Shortening Disorders Spectrum NGS Panel
Tetrahydrofolate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes)
Tetrahydrofolate Metabolism NGS Panel
TFR2-Related Hereditary Hemochromatosis Test
TH Sequence analysis
Thanatophoric Dysplasia Test
TheraGuide 5-FU
Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders: Sequencing Panel
Thoracic Aortic Aneurysm Panel
Thoracic aortic aneurysm, familial form (NGS panel for 3 genes)
Thoracic Aortic Aneurysms and Aortic Dissection Test
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)
Thoracic Aortic Aneurysms and Aortic Dissections panel
Three M syndrome NGS panel
Thrombasthenia of Glanzmann, Panel Massive Sequencing (NGS) ITGA2B,ITGB3 Genes
Thrombocyte associated coagulation dysfunction (Thrombozytäre Gerinnungsstörungen)
Thrombocytopenia (Thrombozytopenie)
Thrombocytopenia and Related Disorders, Panel Massive Sequencing (NGS) 15 Genes
Thrombocytopenia Deletion/Duplication Panel
Thrombocytopenia Deletion/Duplication Panel - Expanded
Thrombocytopenia NGS Panel
Thrombocytopenia Panel
Thrombocytopenia Sequencing Panel
Thrombocytopenia Sequencing Panel - Expanded
Thrombophilia
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene)
Thrombophilia Multi-Gene Panel
Thrombophilia Multi-Gene Panels
Thrombophilia Panel II-TCH
Thrombophilia Test (the F5 and F2 genes - the most common mutations)
Thrombotic Risk, DNA Panel
Thyroid Cancer
Thyroid cancer (Schilddrüsenkarzinom)
Thyroid Cancer Comprehensive Panel
Thyroid Cancer – Basic Diagnostics
Thyroid dyshormonogenesis (Schilddrüsen dyshormonogenesis)
Tier 1: Diazoxide Unresponsive Hyperinsulinism
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia Panel
Tier 1: Hereditary Lymphoma Panel
Tier 2: Autosomal Recessive Primary Microcephaly Tier 2 panel
Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia Panel
Tier 2: GNPAT and AGPS sequencing
Tier 2: Hereditary Lymphoma Panel
Tier 3: SMC3, RAD21, HDAC8 deletion/duplication
Tier 3: SMC3, RAD21,HDAC8 sequencing and deletion/duplication
Tier 3: SMC3,RAD21, HDAC8 sequencing
TK2 Sequence analysis
Tooth agenesis (Zahnagenesie)
Toxicity to Fluoropyrimidines: DPYD gene and TYMS (2R / 2R, 2R / 3R o 3R / 3R) gene sequence analysis and genotype determination
TPP1-Related Neuronal Ceroid-Lipofuscinosis Test
Transient Neonatal Diabetes Mellitus NGS Panel
Transposition of the Great Arteries, Panel Massive Sequencing (NGS) GDF1, MED13L Genes
Treacher Collins Syndrome
Treacher Collins syndrome and related disorders NGS panel
Treacher Collins Syndrome NGS Panel
Treacher Collins Syndrome Test
Treacher Collins Syndrome, Panel Massive Sequencing (NGS) TCOF1, POLR1C, POLR1D Genes
Treacher Collins Syndrome/ Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel
Treacher Collins-Franceschetti syndrome (Treacher Collins-Franceschetti Syndrom)
Treatable Seizures Spotlight Panel
Trichohepatoenteric Syndrome, Panel Massive Sequencing SKIV2L, TTC37 Genes
Trichorhinophalangeal Syndrome , Deletions-Duplications (MLPA) TRPS1, EXT1 Genes
Trichothiodystrophy (NGS panel of 5 genes)
Trichothiodystrophy, Panel Massive Sequencing (NGS) 5 Genes
Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis
Trifunctional Protein Deficiency Panel
Trifunctional Protein Deficiency Panel Del/Dup
Trifunctional Protein Deficiency Panel SeqandDelDup
Trifunctional protein deficiency: Full gene panel sequencing (Rapid testing)
Trifunctional Protein Deficiency: HADHA and HADHB Gene Deletion/Duplication
Trifunctional Protein Deficiency: HADHA and HADHB Gene Sequencing
TSHB - Congenital Hypothyroidism
Tuberous sclerosis (Tuberöse Sklerose)
Tuberous Sclerosis , Panel Massive Sequencing (NGS) (TSC1 and TSC2) Genes
Tuberous sclerosis 1 and 2 (sequence analysis of TSC1 and TSC2 genes)
Tuberous Sclerosis 2 Test
Tuberous Sclerosis Complex NGS Panel
Tuberous Sclerosis Complex Sequencing and Deletion/Duplication Panel
Tuberous Sclerosis Complex test
Tuberous Sclerosis Panel
Tuberous Sclerosis Spotlight Panel
Tuberous sclerosis type 1 and 2 (deletion/duplication analysis on TSC1 and TSC2 genes)
Tuberous Sclerosis Type 1 and Type 2
Tuberous Sclerosis: Deletion/Duplication Panel
Tuberous Sclerosis: Sequencing Panel
Type II Collagenopathies Test
Type VI Collagenopathy NGS Panel
Type VI-Related Collagenopathy Deletion/Duplication Panel
Type VI-Related Collagenopathy Sequencing Panel
Tyrosinemia (NextGen Sequencing Panel and Copy Number Analysis; 4 Genes)
Tyrosinemia NGS Panel
Tyrosinemia, Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes
 

U 

UCD Panel (MitomeNGS)
UGT1A1 related disorders Test
Ullrich congenital muscular dystrophy (NGS panel for 3 genes)
Ullrich congenital muscular dystrophy 1
Ullrich Congenital Muscular Dystrophy, Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes
Uniparental Disomy 14 Test - Malformation syndrome
Uniparental Disomy of Chromosome 6 (UPD6): Methylation Analysis
UPD14(mat) like phenotype
UQCRB Sequence analysis
Urea Cycle Disorders (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes)
Urea Cycle Disorders Deletion/Duplication Panel
Urea Cycle Disorders Sequencing Panel
Urea Cycle Disorders Spotlight Panel
Urea Cycle Disorders, Panel Massive Sequencing (NGS) 8 Genes
Urofacial syndrome (NGS panel of 2 genes)
Usher Panel
Usher Syndrome
Usher Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes)
Usher syndrome (NGS panel for 12 genes)
Usher Syndrome and Non-Syndromic Deafness
Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes
Usher Syndrome Del/Dup Panel
Usher Syndrome Deletion/Duplication Panel
Usher Syndrome Multi-Gene Panels
Usher Syndrome NGS Panel
Usher Syndrome Panel
Usher Syndrome Panel (11 Genes)
Usher Syndrome Panel (MitomeNGS)
Usher Syndrome Sequencing Panel
Usher syndrome type IIA: USH2A gene sequence analysis
Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants
Usher Syndrome: Deletion/Duplication Panel
Usher Syndrome: Sequencing Panel
Uterine Cancer, Panel Massive Sequencing (NGS) 7 Genes
Uveal Melanoma, Ocular Melanoma, Choroidal Melanoma
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1
 

V 

Van der Woude syndrome 1 / 2 (VWS1 / VWS2)
Vanishing White Matter Disease Full Gene Sequencing Analysis Panel (5 genes)
Vanishing White Matter Spotlight Panel
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes)
VAPB-Related Amyotrophic Lateral Sclerosis Test
Variegate Porphyria Test
Vascular and lymphatic disorders Panel
Vascular Malformations Deletion/Duplication, 14 Genes
Vascular Malformations NGS Multi-Gene Panel (21 Genes)
Vascular malformations NGS panel
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
Vascular Malformations Sequencing, 14 Genes
Ventricular Arrhythmia and Sudden Cardiac Death, Panel Massive Sequencing (NGS) 53 Genes
Vitelliform macular dystrophy (Best disease, deletion/duplication analysis of BEST1 and PRPH2 genes)
Vitelliform macular dystrophy (Best disease, sequence analysis of BEST1 and PRPH2 genes)
Vitelliform Macular Dystrophy, Deletions-Duplications (MLPA) BEST1,PRPH2 Genes
Vitreoretinopathy and Wagner Syndrome NGS Panel
Vitreoretinopathy Deletion/Duplication Panel
Vitreoretinopathy Panel
Vitreoretinopathy Sequencing Panel
Vitreoretinopathy: Deletion/Duplication Panel
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel
Vitreoretinopathy: Sequencing Panel
Von Hippel-Lindau Disease Test
VWD Diagnostic Evaluation
VWD Platelet-Type Sequence Analysis
 

W 

Waardenburg Syndrome
Waardenburg syndrome (Waardenburg Syndrom)
Waardenburg syndrome Deletion/Duplication Panel
Waardenburg Syndrome NGS Panel
Waardenburg Syndrome Panel
Waardenburg Syndrome Panel (6 Genes)
Waardenburg syndrome Sequencing Panel
Waardenburg Syndrome Type 1/3 Test
Waardenburg Syndrome Type 2A Test
Waardenburg Syndrome Type 2E/4C Test
Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes)
Waardenburg Syndrome, Panel Massive Sequencing (NGS) 6 Genes
Walker-Warburg Syndrome
Walker-Warburg Syndrome , Panel Massive Sequencing 7 Genes
Walker-Warburg Syndrome Panel
Walker-Warburg Syndrome Test
Warburg Micro Syndrome Deletion / Duplication Panel
Warburg Micro Syndrome Deletion/Duplication Panel
Warburg Micro Syndrome Sequencing Panel
Warburg Micro Syndrome Sequencing Panel (sequencing of RAB3GAP1, RAB3GAP2 and RAB18 sequencing)**
Warburg Micro Syndrome, Panel Massive Sequencing (NGS) (RAB3GAP1,RAB3GAP2,RAB18) Genes
Warfarin (CYP2C9, VKORC1, CYP4F2) Genotyping
Warfarin Panel
Warfarin Resistance
Warfarin Sensitivity Genotype Analysis, Blood
Warfarin Sensitivity, CYP2C9 and VKORC1, 3 Mutations
Weill-Marchesani syndrome NGS panel
WFS1-Related Disorders Test
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Test
Wilms Tumor: Deletion/Duplication Panel
Wilms Tumor: Sequencing Panel
Wilms Tumour
Wilson Disease
Wilson Disease Test
Wiskott-Aldrich syndrome (Wiskott-Aldrich Syndrom)
Wolfram Syndrome Comprehensive NGS Panel
Wolfram syndrome Del/Dup Panel
Wolfram Syndrome Deletion/Duplication Panel
Wolfram Syndrome Sanger Sequencing Panel
Wolfram syndrome sequencing Panel
Wolfram Syndrome, Panel Massive Sequencing (NGS) CISD2, WFS1 Genes
WT1 and PAX6 Sequencing
WT1-Related Disorders Test
 

X 

X Chromosome Ultra-High Density Microarray
X-Linked Asperger Syndrome, Panel Massive Sequencing (NGS) NLGN3, NLGN4X Genes
X-Linked Hereditary Deafness, Panel Massive Sequencing (NGS) 7 Genes
X-Linked Hypophosphatemia Test
X-Linked Intellectual Disability Deletion/Duplication Panel
X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
X-Linked Intellectual Disability Sequencing Panel
X-linked Intellectual Disability: Deletion/Duplication Panel
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel
X-linked Intellectual Disability: Sequencing Panel
X-Linked Mental Retardation
X-linked Mental Retardation Panel
X-Linked Non-Specific ID Sequencing Panel
X-Linked Nonsyndromic Mental Retardation, Panel Massive Sequencing (NGS) 31 Genes
X-Linked Retinitis Pigmentosa (includes RPGR ORF15)
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) Deletion/Duplication Panel
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) Sequencing Panel
X-Linked Sideroblastic Anemia and Ataxia Test (ABCB7 gene)
X-Linked Sideroblastic Anemia Test (ALAS2 gene)
X-linked spastic paraplegia types 1 and 2, MASA, CRASH and Pelizaeus-Merbancher syndromes (sequence analysis of L1CAM and PLP1)
Xeroderma Pigmentosum Deletion/Duplication Panel
Xeroderma Pigmentosum NGS Panel
Xeroderma Pigmentosum Panel
Xeroderma Pigmentosum Sequencing Panel
Xeroderma Pigmentosum, Panel Massive Sequencing (NGS) 9 Genes
XIAP-Related Lymphoproliferative Disease, X-linked Test
XLID NGS Panel
xlRP mutation detection in 2 genes: RP2 and RPGR
XomeDxPlus (WES + mtDNA Sequencing and Deletion Testing)
XomeDxSlice EB
 

Y 

Y Chromosome Infertility
Y Chromosome Microdeletion Analysis
Y Microdeletion Screening
 

Z 

Zellweger Spectrum Disorders
Zellweger Spectrum Disorders and Peroxisomal Beta-Oxidation Defects NGS Panel
Zellweger Spectrum Disorders NGS Panel
Zellweger Syndrome NGS Panel
Zellweger Syndrome Spotlight Panel
Zellweger Syndrome, Panel Massive Sequencing (NGS) 14 Genes
Zimmermann-Laband Syndrome 1 / 2 (ZLS1 / ZLS2)