Single Gene Testing


Information

CeGaT offers comprehensive laboratory diagnostics expertise, with more than 700 different single gene sequence analyses available. Furthermore, for many of these genes (> 350) we can also carry out further analysis using MLPA or quantitative PCR to detect deletions or duplications.

As more and more diseases are able to be diagnosed, we are constantly expanding the range of diagnostics we offer. However, if the gene you are looking for is not listed, please do not hesitate to contact us. We are happy to establish new analyses for you.

Methods

Sanger Sequencing
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems.

Analysis of Deletions and Duplications
For the detection of deletions and duplications we use MLPA (www.mlpa.com) or quantitative PCR. Quantitative PCR is carried out on the Quant Studio 12K Flex Real-Time PCR System from Applied Biosystems.

Fragment Length Analysis
Another service we offer is fragment length analysis by capillary electrophoresis. This method is used for disorders such as triplet repeat diseases. The gene regions of interest are amplified by unique primers, and the number of triplet repeats can be determined by analyzing the fragment lengths of the resulting PCR products. Fragment length is determined using the 96-capillary 3730xl DNA Analyzer by Applied Biosystems.

Material and turnaround time

Material: 3-5 ml of EDTA-blood or 2 µg genomic DNA is required for analysis, however the analysis of other tissues is also possible. Please feel free to contact us by email at info@cegat.com or by phone at +49 7071 565 44 55.

Required documents:

  • Declaration of consent according to German Gendiagnostikgesetz (GenDG)
  • Order form
  • Payment agreement

Processing time: 2-4 weeks

Gene search



Below you can find a list of genes that we offer for genetic testing.

Genes may be listed multiple times in cases where the gene causes many distinct clinical phenotypes.

Clear filter
Gene Disease Step 1 Step 2 Step 3 Kilobases
15q11-13 Angelman Syndrome Deletion and duplication analysis 26700
15q11-13 Prader-Willi Syndrome Deletion and duplication analysis 26700
AAAS Achalasia-addisonianism-alacrimia syndrome, Triple A syndrome Sequencing of all coding exons of the gene 1.6
ABCA3 Pulmonary surfactant metabolism dysfunction type 3 (ABCA3 deficiency) Sequencing of all coding exons of the gene 5.1
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3 Sequencing of all coding exons of the gene 5.1
ABCA4 Age-Dependent Macula Degeneration Sequencing of all coding exons of the gene Deletion and duplication analysis 6.8
ABCA4 Autosomal Recessive Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 6.8
ABCA4 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 6.8
ABCA4 Stargardt Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 6.8
ABCB4 Cholestasis, intrahepatic, of pregnancy, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 3.9
ABCB4 Cholestasis, progressive familial intrahepatic 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 3.9
ABCB4 Gallbladder disease 1, Low phospholipid associated cholelithiasis Sequencing of all coding exons of the gene Deletion and duplication analysis 3.9
ABCD1 Adrenoleukodystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 2.2
ABHD12 Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa and Cataract Sequencing of all coding exons of the gene 1.2
ABHD5 Chanarin-Dorfman syndrome Sequencing of all coding exons of the gene 1.1
ACADS Short Chain Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1.2
ACTA1 Congenital Fiber-Type Disproportion Myopathy Sequencing of all coding exons of the gene 1.1
ACTA1 Nemaline Myopathy Sequencing of all coding exons of the gene 1.1
ACTA2 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Sequencing of all coding exons of the gene 1.1
ACTA2 MOYAMOYA DISEASE 5; MYMY5 Sequencing of all coding exons of the gene 1.1
ACTA2 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Sequencing of all coding exons of the gene 1.1
ACTG2 Visceral myopathy Sequencing of all coding exons of the gene 1.1
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, Rendu-Osler-Weber disease Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
ADAR Aicardi-Goutieres syndrome 6 Sequencing of all coding exons of the gene 3.7
ADAR Dyschromatosis symmetrica hereditaria Sequencing of all coding exons of the gene 3.7
ADCY5 Dyskinesia, familial, with facial myokymia Sequencing of all coding exons of the gene 3.8
ADSL Adenylosuccinate Lyase Deficiency Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
AGA Aspartylglycosaminuria Sequencing of all coding exons of the gene 1
AGL Glycogen Storage Disease  Type III Sequencing of all coding exons of the gene 4.6
AGPS Rhizomelic chondrodysplasia punctata, type 3 Sequencing of all coding exons of the gene 2
AGXT Hyperoxaluria, Primary, Type 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.2
AHI1 Joubert Syndrome Sequencing of all coding exons of the gene 3.6
AIPL1 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
AIPL1 Leber congenital amaurosis 4 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
AIPL1 Retinitis pigmentosa, juvenile Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
AKT3 Hemimegalencephaly Sequencing of all coding exons of the gene 1.4
AKT3 Hemimegalencephaly Sequencing of all coding exons of the gene 1.4
ALDH4A1 Hyperprolinemia, Type II Sequencing of all coding exons of the gene 1.7
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency Sequencing of all coding exons of the gene 1.6
ALDH7A1 Pyridoxine-Dependent Epilepsy Sequencing of all coding exons of the gene 1.6
ALDOB Hereditary fructose intolerance Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
ALG12 CDG-Syndrome 1G Sequencing of all coding exons of the gene 1.5
ALG2 CDG-Syndrome 1I Sequencing of all coding exons of the gene 1.3
ALG3 CDG-Syndrome 1D Sequencing of all coding exons of the gene 1.3
ALG6 CDG-Syndrom 1C Sequencing of all coding exons of the gene 1.5
ALG8 CDG Syndrome 1H Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
ALG9 CDG-Syndrome 1L Sequencing of all coding exons of the gene 1.9
ALMS1 Alstrom Syndrome Sequencing of all coding exons of the gene 12.5
ALPL Hypophosphatasia, adult Sequencing of all coding exons of the gene 1.6
ALPL Hypophosphatasia, childhood Sequencing of all coding exons of the gene 1.6
ALPL Hypophosphatasia, infantile Sequencing of all coding exons of the gene 1.6
ALPL Odontohypophosphatasia Sequencing of all coding exons of the gene 1.6
ALS2 Cardiac Diseases Sequencing of all coding exons of the gene 5
AMACR Alpha-Methylacyl-CoA Racemase Deficiency Sequencing of all coding exons of the gene 1.2
AMPD1 Myoadenylate Deaminase Deficiency Sequencing of all coding exons of the gene 2.3
AMT Glycine Encephalopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
ANG Cardiac Diseases Sequencing of all coding exons of the gene 0.4
ANO10 Spinocerebellar Ataxia, autosomal-recessive 10, SCAR10 Sequencing of all coding exons of the gene Deletion and duplication analysis 2
ANO3 Dystonia 24, Cranio-cervical dystonia with laryngeal and upper-limb involvement Sequencing of all coding exons of the gene 2.9
AP2S1 Hypocalciuric hypercalcemia, familial, type III Sequencing of all coding exons of the gene 0.4
APOA1 Amyloidosis Sequencing of all coding exons of the gene 0.8
APOA1 Amyloidosis, 3 or more types, Hypoalphalipoproteinemia, Apolipoprotein A-I deficiency Sequencing of all coding exons of the gene 0.8
APOA1 ApoA-I deficiency Sequencing of all coding exons of the gene 0.8
APOA2 Apolipoprotein A-II deficiency, AApoAII amyloidosis Sequencing of all coding exons of the gene 0.3
APOA5 Hyperchylomicronemia, late-onset Sequencing of all coding exons of the gene 1.1
APP Alzheimer Dementia Sequencing of hotspots Deletion and duplication analysis 2.3
APTX Ataxia with Oculomotor Apraxia 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1
AR Androgen Insensitivity Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis Fragment length analysis 2.8
AR Kennedy Syndrome (Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1) Repeat expansion analysis 2.8
AR Spinal and Bulbar Muscular Atrophy Sequencing of all coding exons of the gene Deletion and duplication analysis Fragment length analysis 2.8
ARFGEF2 Periventricular nodular Heterotopia Sequencing of all coding exons of the gene 5.4
ARHGEF9 Hyperekplexia Sequencing of all coding exons of the gene 1.6
ARSA Metachromatic Leukodystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
ARSI Spastic Paraplegia Type 66 Sequencing of all coding exons of the gene 1.7
ARX Agenesis of Corpus Callosum with Abnormal Genitalia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ARX Partington X-Linked Mental Retardation Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ARX West-Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ARX West-Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ARX X-Linked Lissencephaly with Ambiguous Genitalia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ARX X-Linked Lissencephaly with Ambiguous Genitalia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ASAH1 Farber lipogranulomatosis Sequencing of all coding exons of the gene 1.2
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy Sequencing of all coding exons of the gene 1.2
ASPM Primary Autosomal Recessive Microcephaly Type 5 Sequencing of all coding exons of the gene Deletion and duplication analysis 10.4
ASXL1 Bohring-Opitz Syndrome Sequencing of all coding exons of the gene 4.6
ATF6 Achromatopsia 7 Sequencing of all coding exons of the gene 2
ATL1 Neuropathy, hereditary sensory, type ID Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ATL1 Spastic paraplegia 3A, autosomal dominant Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
ATM Ataxia Teleangiectatica (AT) Sequencing of all coding exons of the gene Deletion and duplication analysis 9.2
ATP13A2 Kufor-Rakeb Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.5
ATP1A2 Familial hemiplegic Migraine Type 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 3.1
ATP1A3 Rapid Onset Dystonia with Parkinsonism Sequencing of all coding exons of the gene Deletion and duplication analysis 3.1
ATP2A1 Brody myopathy Sequencing of all coding exons of the gene 3
ATP2A2 Darier-White Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 3.1
ATP2C1 Hailey-Hailey disease, Familial benign chronic pemphigus Sequencing of all coding exons of the gene 2.9
ATP6AP2 Mental retardation, X-linked, with epilepsy Sequencing of all coding exons of the gene 1.1
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive Sequencing of all coding exons of the gene 2.5
ATP6V1B1 Renal tubular acidosis with deafness Sequencing of all coding exons of the gene 1.5
ATP7A ATP7A-Related Copper Transport Disorders Deletion and duplication analysis; Sequencing of all coding exons of the gene 4.5
ATP7A Menkes Disease Deletion and duplication analysis; Sequencing of all coding exons of the gene 4.5
ATP7B Wilson Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 4.4
ATP8A2 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Sequencing of all coding exons of the gene 3.6
ATP8B1 Cholestasis, benign recurrent intrahepatic Sequencing of all coding exons of the gene 3.8
ATP8B1 Cholestasis, intrahepatic, of pregnancy, 1 Sequencing of all coding exons of the gene 3.8
ATP8B1 Cholestasis, progressive familial intrahepatic 1 Sequencing of all coding exons of the gene 3.8
ATRX Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 7.5
ATXN1 Spinocerebellar Ataxia 1 Repeat expansion analysis 2.4
ATXN2 Spinocerebellar Ataxia 2 Repeat expansion analysis 3.9
ATXN3 Machado-Joseph Disease Repeat expansion analysis 1.1
ATXN7 Spinocerebellar Ataxia 7 Repeat expansion analysis 2.8
B9D1 Meckel Syndrome Sequencing of all coding exons of the gene 0.8
B9D2 Meckel Syndrome Sequencing of all coding exons of the gene 0.5
BBS1 Bardet-Biedl Syndrome Sequencing of all coding exons of the gene 1.8
BBS2 Bardet Biedl Syndrome Sequencing of all coding exons of the gene 2.2
BCKDHA Maple Syrup Urine Disease Type 1A Sequencing of all coding exons of the gene 1.3
BCKDHB Maple Syrup Urine Disease  Sequencing of all coding exons of the gene 1.2
BEST1 Autosomal Dominant  Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
BEST1 Autosomal Recessive Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
BFSP2 Cataract, autosomal dominant Sequencing of all coding exons of the gene 1.2
BICD2 Spinal muscular atrophy Sequencing of all coding exons of the gene 2.6
BSCL2 Lipodystrophy, congenital generalized, type 2 Sequencing of all coding exons of the gene 1.4
BSCL2 Neuropathy, distal hereditary motor, type V Sequencing of all coding exons of the gene 1.4
BSCL2 Silver spastic paraplegia syndrome Sequencing of all coding exons of the gene 1.4
BTD Biotinidase deficiency Sequencing of all coding exons of the gene 1.6
C10orf11 Albinism, oculocutaneous, type VII Sequencing of all coding exons of the gene 0.6
C12orf65 Combined Oxidative Phosphorylation Deficiency 7 Sequencing of all coding exons of the gene 0.5
C1QA C1q DEFICIENCY; C1QD Sequencing of all coding exons of the gene 0.7
C1QC C1q DEFICIENCY; C1QD Sequencing of all coding exons of the gene 0.7
C1QTNF5 Late-Onset Retinal Degeneration Sequencing of all coding exons of the gene 0.7
C21orf2 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene 1.1
C21orf2 Jeune Syndrome Sequencing of all coding exons of the gene 1.1
C21orf2 Retinal Dystrophy Sequencing of all coding exons of the gene 1.1
C21orf2 Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.1
C21orf2 Spondylometaphyseal Dysplasia Sequencing of all coding exons of the gene 1.1
C9orf72 Cardiac Diseases Repeat expansion analysis 1.4
CABP4 Congenital Stationary Night-Blindness Sequencing of all coding exons of the gene 0.8
CACNA1A Episodic Ataxia - Type 2 Sequencing of all coding exons of the gene Deletion and duplication analysis Repeat expansion analysis 7.5
CACNA1A Familial hemiplegic Migraine Type 1  Sequencing of all coding exons of the gene Deletion and duplication analysis Repeat expansion analysis 7.5
CACNA1A Paroxysmal Familial Ataxia Sequencing of all coding exons of the gene Deletion and duplication analysis Repeat expansion analysis 7.5
CACNA1A Spinocerebellar Ataxia Type 6 Sequencing of all coding exons of the gene Deletion and duplication analysis Repeat expansion analysis 7.5
CACNA1B Dystonia 23 Sequencing of all coding exons of the gene 7
CACNA1F Cone-Rod-Dystrophy Sequencing of all coding exons of the gene 5.9
CACNA1F Congenital Stationary Night-Blindness Sequencing of all coding exons of the gene 5.9
CACNA1H Childhood absence Epilepsy Sequencing of all coding exons of the gene 7.1
CACNA1H Hyperaldosteronism, familial, type IV, epilepsy, childhood absence, susceptibility to, 6 Sequencing of all coding exons of the gene 7.1
CACNB4 Episodic Ataxia - Type 2 Sequencing of all coding exons of the gene 1.6
CACNB4 Idiopathic generalised Epilepsy (IGE)  Sequencing of all coding exons of the gene 1.6
CACNB4 Juvenile Myoclonus Epilepsy (JME) Sequencing of all coding exons of the gene 1.6
CAPN3 Limb-Girdle Muscular Dystrophies, autosomal recessive Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
CASK CASK-Related X-Linked Mental Retardation Deletion and duplication analysis; Sequencing of all coding exons of the gene 2.8
CASK FG-Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 2.8
CASR Autosomal Dominant Hypocalcemia Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.3
CASR Familial hypocalciuric Hypercalcemia, Type 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.3
CASR Neonatal Severe Primary Hyperparathyroidism Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.3
CCDC65 Ciliary dyskinesia, primary, 27 Sequencing of all coding exons of the gene 1.5
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Sequencing of all coding exons of the gene 0.9
CD96 C syndrome Sequencing of all coding exons of the gene 1.8
CDH3 Ectodermal dysplasia, ectrodactyly, and macular dystrophy Sequencing of all coding exons of the gene 2.5
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy Sequencing of all coding exons of the gene 2.5
CDHR1 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene 2.6
CDHR1 Retinitis Pigmentosa Sequencing of all coding exons of the gene 2.6
CDK5RAP2 Primary Autosomal Recessive Microcephaly Type 3 Sequencing of all coding exons of the gene 5.7
CDKL5 Epileptic Encephalopathy, Early Infantile, 2 Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.1
CDKL5 Rett Syndrome, Congenital Variant Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.1
CDKL5 West-Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.1
CDKL5 West-Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.1
CDON Holoprosencephaly Sequencing of all coding exons of the gene 3.9
CECR1 Polyarteritis nodosa Sequencing of all coding exons of the gene 1.5
CEP63 Seckel Syndrome Sequencing of all coding exons of the gene 2.1
CFH Age-Dependent Macula Degeneration Sequencing of all coding exons of the gene 3.7
CFH Atypical Hemolytic-Uremic Syndrome Sequencing of all coding exons of the gene 3.7
CFH Basal Laminar Drusen Sequencing of all coding exons of the gene 3.7
CFTR Congenital bilateral absence of vas deferens (CBAVD) Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 4.4
CFTR Cystic fibrosis Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 4.4
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.5
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant Sequencing of all coding exons of the gene Deletion and duplication analysis 0.5
CHCHD10 Spinal muscular atrophy, Jokela type Sequencing of all coding exons of the gene Deletion and duplication analysis 0.5
CHD2 Epileptic encephalopathy, childhood-onset, Lennox-Gastaut syndrome Sequencing of all coding exons of the gene 5.5
CHD7 CHARGE Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 9
CHD7 Hypogonadotropic hypogonadism Sequencing of all coding exons of the gene Deletion and duplication analysis 9
CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia Sequencing of all coding exons of the gene Deletion and duplication analysis 9
CHKB Congenital Muscular Dystrophy Sequencing of all coding exons of the gene 1.2
CHM Choroidal Sclerosis Sequencing of all coding exons of the gene; Deletion and duplication analysis 2
CHMP2B Frontotemporal Dementia Sequencing of all coding exons of the gene 0.6
CHN1 Duane Syndrome Sequencing of all coding exons of the gene 1.4
CHRNA1 Multiple pterygium syndrome, lethal type Sequencing of all coding exons of the gene 1.4
CHRNA1 Myasthenic Syndrome Sequencing of all coding exons of the gene 1.4
CHRNA2 Nocturnal frontal lobe Epilepsy Sequencing of all coding exons of the gene 1.6
CHRNA4 Nocturnal frontal lobe Epilepsy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.9
CHRNB1 Congenital Myasthenic Syndromes Sequencing of all coding exons of the gene 1.5
CHRNB2 Nocturnal frontal lobe Epilepsy Sequencing of all coding exons of the gene 1.5
CHRNB3 Cardiac Diseases Sequencing of all coding exons of the gene 1.4
CHRND Multiple pterygium syndrome, lethal type Sequencing of all coding exons of the gene 1.6
CHRND Myasthenic Syndrome Sequencing of all coding exons of the gene 1.6
CIZ1 Dystonia 23 Sequencing of all coding exons of the gene 2.7
CLCN1 Myotonia Congenita Sequencing of all coding exons of the gene Deletion and duplication analysis 3
CLCN5 Dent disease type 1 Sequencing of all coding exons of the gene 2.5
CLCN5 Hypophosphatemic rickets Sequencing of all coding exons of the gene 2.5
CLCN5 Nephrolithiasis, type I Sequencing of all coding exons of the gene 2.5
CLCN5 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis Sequencing of all coding exons of the gene 2.5
CLN3 Neuronal Ceroid-Lipofuscinosis Sequencing of all coding exons of the gene 1.3
CLN3 Progressive epilepsy intellectual disability syndrome, Finnish type Sequencing of all coding exons of the gene 1.3
CLN5 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene 1.2
CLN6 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene 0.9
CLN8 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene 0.9
CLPB 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN Sequencing of all coding exons of the gene 2.1
CLRN1 Usher Syndrome Type 3 Sequencing of all coding exons of the gene 0.7
CNGA3 Achromatopsia Sequencing of all coding exons of the gene 2.1
CNGB1 Retinitis Pigmentosa Sequencing of all coding exons of the gene 3.8
CNGB3 Achromatopsia Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 2.4
CNGB3 Stargardt Disease Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 2.4
CNTNAP2 Pitt-Hopkins-Like Syndrome 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 4
COASY Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene 1.8
COASY Neurodegeneration with brain iron accumulation 6 Sequencing of all coding exons of the gene 1.8
COG6 Congenital disorder of glycosylation, type IIl Sequencing of all coding exons of the gene 2
COG7 Congenital disorder of glycosylation, type IIe Sequencing of all coding exons of the gene 2.3
COL10A1 Metaphyseal Chondrodysplasia, Schmid Type Sequencing of all coding exons of the gene 2
COL18A1 Knobloch Syndrome Type I Sequencing of all coding exons of the gene 4.6
COL2A1 Kniest Dysplasia Sequencing of all coding exons of the gene Deletion and duplication analysis 4.5
COL2A1 Stickler Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4.5
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Sequencing of all coding exons of the gene 5
COL4A1 Brain small vessel disease with or without ocular anomalies Sequencing of all coding exons of the gene 5
COL4A1 Porencephaly 1 Sequencing of all coding exons of the gene 5
COL4A1 Retinal arteries, tortuosity of Sequencing of all coding exons of the gene 5
COL4A3 Alport syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 5
COL4A3 Hematuria, benign familial Sequencing of all coding exons of the gene Deletion and duplication analysis 5
COL6A3 Bethlem myopathy 1 Sequencing of all coding exons of the gene 9.5
COL6A3 Dystonia 27 Sequencing of all coding exons of the gene 9.5
COL6A3 Ullrich congenital muscular dystrophy 1 Sequencing of all coding exons of the gene 9.5
COL9A1 Multiple epiphyseal Dysplasia  Sequencing of all coding exons of the gene Deletion and duplication analysis 2.8
COL9A1 Stickler Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 2.8
COL9A2 Multiple epiphyseal Dysplasia  Sequencing of all coding exons of the gene 2.1
COL9A3 Multiple epiphyseal Dysplasia  Sequencing of all coding exons of the gene 2.1
COLEC11 3MC syndrome 2 Sequencing of all coding exons of the gene 0.9
COMP Multiple epiphyseal Dysplasia  Sequencing of all coding exons of the gene 2.3
COMP Pseudoachondroplasia  Sequencing of all coding exons of the gene 2.3
COPA Autoimmune Interstitial Lung, Joint and Kidney Disease Sequencing of all coding exons of the gene 3.7
COQ8A Coenzyme Q10 Deficiency Sequencing of all coding exons of the gene 1.9
COQ9 Coenzyme Q10 Deficiency Sequencing of all coding exons of the gene 1
CP Aceruloplasminemia Sequencing of all coding exons of the gene 3.2
CPA1 Hereditary pancreatitis (Carboxypeptidase A1; CPA1 gene) Sequencing of all coding exons of the gene 1.3
CPT2 Carnitine Palmitoyltransferase II Deficiency Sequencing of all coding exons of the gene 2
CRB1 Leber Congenital Amaurosis 8 Sequencing of all coding exons of the gene Deletion and duplication analysis 4.2
CRB1 Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 4.2
CRX Leber Congenital Amaurosis 7 Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.9
CRX Retinitis Pigmentosa Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.9
CSF1R Leukoencephalopathy with spheroids Sequencing of hotspots Sequencing of all coding exons of the gene 2.9
CSF2RA Pulmonary surfactant metabolism dysfunction type 4 (mutation in the GMCSF receptor α chain; CSF2RA gene) Deletion and duplication analysis; Sequencing of all coding exons of the gene 2.6
CSTB Progressive Myoclonus Epilepsy with Ataxia Repeat expansion analysis Sequencing of all coding exons of the gene Deletion and duplication analysis 0.3
CSTB Progressive Myoclonus Epilepsy with Ataxia Repeat expansion analysis Sequencing of all coding exons of the gene Deletion and duplication analysis 0.3
CTRC Pancreatitis, chronic, susceptibility to Sequencing of all coding exons of the gene 0.8
CTSD Neuronal Ceroid-Llipofuscinosis Sequencing of all coding exons of the gene 1.2
CTSF Neuronal Ceroid-Lipofuscinosis Sequencing of all coding exons of the gene 1.5
CTSF Progressive epilepsy intellectual disability syndrome, Finnish type Sequencing of all coding exons of the gene 1.5
CYP19A1 Aromatase deficiency Sequencing of all coding exons of the gene 1.5
CYP27A1 Cerebrotendinous Xanthomatosis Sequencing of all coding exons of the gene 1.6
DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity Sequencing of all coding exons of the gene 1.5
DARS2 Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung Sequencing of all coding exons of the gene 1.9
DBT Maple Syrup Urine Disease  Sequencing of all coding exons of the gene 1.4
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2 4.3
DCC Mirror movements 1 Sequencing of all coding exons of the gene 4.3
DCTN1 Perry Syndrome Sequencing of all coding exons of the gene 3.8
DCX DCX-Related Disorders Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
DES Cardiomyopathy, dilated, 1I Sequencing of all coding exons of the gene 1.4
DES Muscular dystrophy, limb-girdle, type 2R Sequencing of all coding exons of the gene 1.4
DES Myopathy, myofibrillar, 1 Sequencing of all coding exons of the gene 1.4
DES Scapuloperoneal syndrome, neurogenic, Kaeser type Sequencing of all coding exons of the gene 1.4
DFNB31 DFNB31 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene 2.7
DGKE Nephrotic Syndrome Type 7 Sequencing of all coding exons of the gene 1.7
DHTKD1 2-alpha Aminoadipic 2-Oxoadipic Aciduria Sequencing of all coding exons of the gene 2.8
DLD Dihydrolipoamide Dehydrogenase (E3) Deficiency Sequencing of all coding exons of the gene 1.5
DLD Leigh Syndrome Sequencing of all coding exons of the gene 1.5
DLD Maple Syrup Urine Disease  Sequencing of all coding exons of the gene 1.5
DMD Becker muscular dystrophy Deletion and duplication analysis Sequencing of all coding exons of the gene 11.1
DMD Cardiomyopathy, dilated Deletion and duplication analysis Sequencing of all coding exons of the gene 11.1
DMD Duchenne muscular dystrophy Deletion and duplication analysis Sequencing of all coding exons of the gene 11.1
DMP1 Hypophosphatemic rickets, autosomal recessive Sequencing of all coding exons of the gene 1.5
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus Sequencing of all coding exons of the gene Deletion and duplication analysis 2.1
DNAJC5 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene 0.6
DOK7 Myasthenic Syndrome Sequencing of all coding exons of the gene 1.5
DPAGT1 Congenital disorder of glycosylation, type Ij Sequencing of all coding exons of the gene 1.2
DRD2 Myclonus Dystonia Sequencing of all coding exons of the gene 1.3
DUOX2 Thryoid dyshormonogenesis 6 Sequencing of all coding exons of the gene 4.6
DUOXA2 Thyroid dyshormonogenesis 5 Sequencing of all coding exons of the gene 1
DYSF Muscular dystrophy, limb-girdle, type 2B Sequencing of all coding exons of the gene Deletion and duplication analysis 6.4
DYX1C1 Ciliary dyskinesia, primary, 25 Sequencing of all coding exons of the gene 1.3
ECHS1 Leigh syndrome with leukodystrophy, Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Sequencing of all coding exons of the gene 0.9
EFEMP1 Doyne Honeycomb Retinal Dystrophy Sequencing of all coding exons of the gene 1.5
EFHC1 Juvenile Myoclonus Epilepsy (JME) Sequencing of all coding exons of the gene 1.9
EFHC1 Myoclonic epilepsy, juvenile, susceptibility to, 1 Sequencing of all coding exons of the gene 1.9
EFNB1 Craniofrontonasal dysplasia Deletion and duplication analysis; Sequencing of all coding exons of the gene 1
EGF Hypomagnesemia 4, renal Sequencing of all coding exons of the gene 3.6
EGR2 Charcot-Marie-Tooth Neuropathy Type 1D Sequencing of all coding exons of the gene 1.4
EGR2 Charcot-Marie-Tooth Neuropathy Type 4E Sequencing of all coding exons of the gene 1.4
ELANE Neutropenia, cyclic Sequencing of hotspots Sequencing of all coding exons of the gene 0.8
ELANE Neutropenia, severe congenital 1, autosomal dominant Sequencing of hotspots Sequencing of all coding exons of the gene 0.8
ELOVL4 Stargardt Disease Sequencing of all coding exons of the gene 0.9
EMX2 Schizencephaly Sequencing of all coding exons of the gene 0.8
EMX2 Schizencephaly Sequencing of all coding exons of the gene 0.8
ENG Telangiectasia, hereditary hemorrhagic, type 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 2
EOMES Microcephaly Syndrome Sequencing of all coding exons of the gene 2.1
EP300 Rubinstein-Taybi syndrome 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 7.2
EPM2A Lafora Disease Sequencing of all coding exons of the gene; Deletion and duplication analysis 1
ERCC1 Xeroderma Pigmentosum Sequencing of all coding exons of the gene 1
ERCC2 Xeroderma Pigmentosum Sequencing of all coding exons of the gene 2.3
ERCC4 Xeroderma Pigmentosum Sequencing of all coding exons of the gene 2.8
ERCC5 Xeroderma Pigmentosum Sequencing of all coding exons of the gene 3.6
ERCC6 Age-Dependent Macula Degeneration Sequencing of all coding exons of the gene Deletion and duplication analysis 4.5
ERCC6 Cockayne Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4.5
ERCC8 Cockayne Syndrome Sequencing of all coding exons of the gene 1.2
ETFA Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1
ETFA Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1
ETFB Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1
ETFB Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1
ETFDH Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1.9
ETFDH Multiple Acyl-CoA Dehydrogenase Deficiency Sequencing of all coding exons of the gene 1.9
ETHE1 Ethylmalonic encephalopathy Sequencing of all coding exons of the gene 0.8
EXOSC3 Pontocerebellar Hypoplasia, Type 1B Sequencing of all coding exons of the gene 0.8
EXT1 Multiple Exostoses  Sequencing of all coding exons of the gene Deletion and duplication analysis 2.2
EXT2 Multiple Exostoses  Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
F12 Angioedema, hereditary, type III Sequencing of all coding exons of the gene 1.8
F12 Factor XII deficiency Sequencing of all coding exons of the gene 1.8
F12 Hereditary angioedema type III (mutation in exon 9 of the F12 gene) Sequencing of all coding exons of the gene 1.8
F2 Congenital factor II deficiency (Dysprothrombinemia/Hypoprothrombinemia) Sequencing of hotspots Sequencing of all coding exons of the gene 1.9
F2 Thrombophilia due to thrombin defect Sequencing of hotspots Sequencing of all coding exons of the gene 1.9
F5 Factor V Leiden mutation / APC resistance Sequencing of hotspots Sequencing of all coding exons of the gene 6.7
FA2H Fatty Acid Hydroxylase-Associated Neurodegeneration Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
FA2H Spastic Paraplegia 35 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
FAH Tyrosinemia Sequencing of all coding exons of the gene 1.3
FAM58A STAR syndrome Sequencing of all coding exons of the gene 0.7
FANCC Fanconi anemia, complementation group C; FANCC Sequencing of all coding exons of the gene 1.7
FAS Autoimmune lymphoproliferative syndrome, type IA Sequencing of all coding exons of the gene 1
FGA Hereditary amyloidosis (FGA and TTR gene) Sequencing of hotspots 2.6
FGD1 Aarskog-Scott syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
FGD1 Mental retardation, X-linked syndromic 16 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
FGF14 Spinocerebellar ataxia 27 Sequencing of all coding exons of the gene 0.8
FGF23 Hypophosphatemic rickets, autosomal dominant Sequencing of all coding exons of the gene 0.8
FGF23 Osteomalacia, tumor-induced Sequencing of all coding exons of the gene 0.8
FGF23 Tumoral calcinosis, hyperphosphatemic, familial Sequencing of all coding exons of the gene 0.8
FGF8 Holoprosencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
FGF8 Hypogonadotropic hypogonadism Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sequencing of all coding exons of the gene 2.5
FGFR2 Apert syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Beare-Stevenson cutis gyrata syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Bent bone dysplasia syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Craniofacial-skeletal-dermatologic dysplasia Sequencing of all coding exons of the gene 2.5
FGFR2 Craniosynostosis, nonspecific Sequencing of all coding exons of the gene 2.5
FGFR2 Crouzon Syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Jackson-Weiss syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 LADD syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Pfeiffer syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Saethre-Chotzen Syndrome Sequencing of all coding exons of the gene 2.5
FGFR2 Scaphocephaly and Axenfeld-Rieger anomaly Sequencing of all coding exons of the gene 2.5
FGFR2 Scaphocephaly, maxillary retrusion, and mental retardation Sequencing of all coding exons of the gene 2.5
FGFR3 Achondroplasia Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Crouzon Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Crouzon Syndrome with Acanthosis Nigricans Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Hypochondroplasia Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Lacrimo-Auriculo-Dento-Digital Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Muenke Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 Saddan Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 THANATOPHORIC DYSPLASIA, TYPE I; TD1 Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FGFR3 THANATOPHORIC DYSPLASIA, TYPE II; TD2 Sequencing of hotspots Sequencing of all coding exons of the gene 2.4
FLNA Periventricular nodular Heterotopia Sequencing of all coding exons of the gene Deletion and duplication analysis 7.9
FLT4 Hemangioma, capillary infantile, somatic Sequencing of all coding exons of the gene 4.1
FLT4 Hereditary lymphedema type IA (mutation in exons 17-25 of the FTL4 gene) Sequencing of all coding exons of the gene 4.1
FLT4 Lymphedema, hereditary, IA Sequencing of all coding exons of the gene 4.1
FLVCR1 Posterior Column Ataxia with Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.7
FLVCR2 Fowler Syndrome Sequencing of all coding exons of the gene 1.6
FOLR1 Neurodegeneration due to Cerebral Folate Transport Deficiency Sequencing of all coding exons of the gene 0.8
FOXC1 Axenfeld-Rieger Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.7
FOXC1 Peters Anomaly Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.7
FOXE1 Bamforth-Lazarus Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
FOXG1 Rett Syndrome, Congenital Variant Sequencing of all coding exons of the gene 1.5
FRAS1 FRAS1-Related Fraser Syndrome Sequencing of all coding exons of the gene 12
FREM1 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR Sequencing of all coding exons of the gene 6.5
FREM1 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA Sequencing of all coding exons of the gene 6.5
FREM1 TRIGONOCEPHALY 2; TRIGNO2 Sequencing of all coding exons of the gene 6.5
FSCN2 Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.6
FSHB Hypogonadotropic hypogonadism 24 without anosmia Sequencing of all coding exons of the gene 0.4
FTL Hyperferritinemia-cataract syndrome (mutation in the IRE of the FTL gene) Sequencing of all coding exons of the gene 0.5
FTL Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene 0.5
FUS Cardiac Diseases Sequencing of all coding exons of the gene 1.6
FZD4 Familial Exudative Vitreoretinopathy Sequencing of all coding exons of the gene 1.6
G6PC Glycogen Storage Disease Type Ia Sequencing of all coding exons of the gene 1.1
G6PC3 Dursun syndrome Sequencing of all coding exons of the gene 1
G6PC3 Neutropenia, severe congenital 4, autosomal recessive Sequencing of all coding exons of the gene 1
GAA Glycogen storage disease II Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.9
GABRA1 Juvenile Myoclonus Epilepsy (JME) Sequencing of all coding exons of the gene 1.4
GABRB3 Childhood absence Epilepsy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GABRD Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to Sequencing of all coding exons of the gene 1.4
GABRD Generalised Epilepsy with febrile seizures plus (GEFS+) Sequencing of all coding exons of the gene 1.4
GABRD Juvenile Myoclonus Epilepsy (JME) Sequencing of all coding exons of the gene 1.4
GABRG2 Childhood absence Epilepsy Sequencing of all coding exons of the gene 1.5
GALC Krabbe Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 2.1
GALNT3 Tumoral calcinosis Sequencing of all coding exons of the gene 1.9
GAMT Guanidinoacetate Methyltransferase Deficiency Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
GARS Charcot-Marie-Tooth disease, type 2D Sequencing of all coding exons of the gene 2.2
GARS Neuropathy, distal hereditary motor, type V Sequencing of all coding exons of the gene 2.2
GATA1 GATA1-Related Anemia with Thrombocytopenia Sequencing of all coding exons of the gene 1.2
GATA2 Emberger syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GATA2 Immunodeficiency 21 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GATA6 Atrial septal defect 9 Sequencing of all coding exons of the gene 1.8
GATA6 Atrioventricular septal defect 5 Sequencing of all coding exons of the gene 1.8
GATA6 Pancreatic agenesis and congenital heart defects Sequencing of all coding exons of the gene 1.8
GATA6 Tetralogy of Fallot Sequencing of all coding exons of the gene 1.8
GBA Parkinson Syndrome Sequencing of all coding exons of the gene 1.6
GBE1 Glycogen Storage Disease Type IV Sequencing of all coding exons of the gene 2.1
GCDH Glutaricacidemia Type 1 Sequencing of all coding exons of the gene 1.3
GCH1 Dopa-responsive Dystonia DYT5 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
GCK Diabetes mellitus, gestational Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GCK Diabetes mellitus, noninsulin-dependent, late onset Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GCK Diabetes mellitus, permanent neonatal Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GCK Hyperinsulinemic hypoglycemia, familial, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GCK MODY, type II Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GCNT2 Cataracts, autosomal recessive Sequencing of all coding exons of the gene 1.2
GCSH Glycine Encephalopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 0.5
GDAP1 Charcot-Marie-Tooth Neuropathy Type 2H Sequencing of all coding exons of the gene 1.1
GDAP1 Charcot-Marie-Tooth Neuropathy Type 2K Sequencing of all coding exons of the gene 1.1
GDAP1 Charcot-Marie-Tooth Neuropathy Type 4A Sequencing of all coding exons of the gene 1.1
GFAP Alexander Syndrome Sequencing of all coding exons of the gene 1.3
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Sequencing of all coding exons of the gene 0.6
GJA1 Hypoplastic Left Heart Syndrome Sequencing of all coding exons of the gene 1.1
GJA1 Oculodentodigital Dysplasia Sequencing of all coding exons of the gene 1.1
GJA1 Syndactyly, Type III Sequencing of all coding exons of the gene 1.1
GJB1 Charcot-Marie-Tooth X-linked  Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
GJB2 DFNA 3 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
GJB2 DFNA 3 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
GJB2 DFNB 1 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
GJB2 Vohwinkel Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
GJB3 GJB3-Related Erythrokeratodermia Variabilis Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
GJB6 DFNA 3 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
GJB6 DFNA 3 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
GJC2 Pelizaeus-Merzbacher-Like Disease 1 Sequencing of all coding exons of the gene 1.3
GJC2 Spastic Paraplegia 44 Sequencing of all coding exons of the gene 1.3
GLA Fabry Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
GLB1 GM1-Gangliosidosis Type 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 2
GLB1 Mucopolysaccharidosis Type 4B Sequencing of all coding exons of the gene Deletion and duplication analysis 2
GLDC Glycine Encephalopathy Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.1
GLE1 Lethal Arthrogryposis with anterior horn cell disease (LAAHD) Sequencing of all coding exons of the gene Deletion and duplication analysis 2.1
GLE1 Lethal Congenital Contracture Syndrome 1 (LCCS1)  Sequencing of all coding exons of the gene Deletion and duplication analysis 2.1
GLI2 Culler-Jones syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
GLI2 Holoprosencephaly-9 Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
GLI3 Greig Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 4.7
GLRA1 Hyperekplexia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
GLRB Hyperekplexia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
GLUL Glutamine deficiency, congenital Sequencing of all coding exons of the gene 1.1
GNA11 Hypocalcemia, autosomal dominant 2 Sequencing of all coding exons of the gene 1.1
GNA11 Hypocalciuric hypercalcemia, type II Sequencing of all coding exons of the gene 1.1
GNAQ Capillary malformations, congenital, 1, somatic, mosaic Sequencing of all coding exons of the gene 1.1
GNAQ Sturge-Weber syndrome, somatic, mosaic Sequencing of all coding exons of the gene 1.1
GNAT2 Achromatopsia Sequencing of all coding exons of the gene 1.1
GNPTAB Mucolipidosis  Sequencing of all coding exons of the gene 3.8
GNPTG Mucolipidosis   Sequencing of all coding exons of the gene 0.9
GNRHR Hypogonadotropic hypogonadism Sequencing of all coding exons of the gene Deletion and duplication analysis 1
GNS Mucopolysaccharidosis type IIID Sequencing of all coding exons of the gene 1.7
GOSR2 Epilepsy, progressive myoclonic 6 Sequencing of all coding exons of the gene 0.6
GPHN Hyperekplexia Sequencing of all coding exons of the gene 2.3
GPHN Molybdenum cofactor deficiency C Sequencing of all coding exons of the gene 2.3
GPR143 Ocular Albinism  x-linked Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
GPSM2 Chudley-McCullough syndrome Sequencing of all coding exons of the gene 2.1
GRIN2A Epilepsy with neurodevelopmental defects Deletion and duplication analysis; Sequencing of all coding exons of the gene 4.4
GRN Frontotemporal Dementia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
GSN Amyloidosis, Finnish type Sequencing of all coding exons of the gene 2.3
GSS Glutathione synthetase deficiency Sequencing of all coding exons of the gene 1.4
GUCA1A Cone-Rod-Dystrophy Sequencing of all coding exons of the gene 0.6
GUCY2D Leber Congenital Amaurosis Sequencing of all coding exons of the gene Deletion and duplication analysis 3.3
HAX1 Neutropenia, severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene 0.8
HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene 3.6
HCRT Narcolepsy 1 Sequencing of all coding exons of the gene 0.4
HDAC8 Cornelia de Lange Syndrome Sequencing of all coding exons of the gene 1.1
HEATR2 Ciliary dyskinesia, primary, 18 Sequencing of all coding exons of the gene 2.6
HESX1 Septooptic dysplasia Sequencing of all coding exons of the gene 0.6
HEXA Hexosaminidase A Deficiency Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
HEXA Tay-Sachs Disease Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
HFE Hemochromatosis type 1 (C282Y and H63D mutation; complete HFE gene analysis on request) Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 1
HFE Hereditary Hemochromatosis Sequencing of hotspots Sequencing of all coding exons of the gene Deletion and duplication analysis 1
HFE2 Hemochromatosis type 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) Sequencing of all coding exons of the gene 1.9
HGSNAT Retinitis pigmentosa 73 Sequencing of all coding exons of the gene 1.9
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive Sequencing of all coding exons of the gene Deletion and duplication analysis 0.4
HNF1A Maturity-Onset Diabetes of the Young Type 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.9
HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
HNF4A MODY, type I Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
HOGA1 Hyperoxaluria, Primary, Type 3 Sequencing of all coding exons of the gene 1
HOXD13 Brachydactyly, type D Sequencing of all coding exons of the gene 1
HOXD13 Brachydactyly, type E Sequencing of all coding exons of the gene 1
HOXD13 Brachydactyly-syndactyly syndrome Sequencing of all coding exons of the gene 1
HOXD13 Syndactyly, type V Sequencing of all coding exons of the gene 1
HOXD13 Synpolydactyly, type I Sequencing of all coding exons of the gene 1
HRAS Costello Syndrome Sequencing of all coding exons of the gene 0.6
HSD11B1 Cortisone reductase deficiency 2 Sequencing of all coding exons of the gene 0.9
HSD17B10 17-beta-hydroxysteroid dehydrogenase X deficiency Sequencing of all coding exons of the gene 0.8
HSD17B4 Peroxisomal Bifunctional Enzyme Deficiency Sequencing of all coding exons of the gene 2.3
HSD17B4 Perrault syndrome 1 Sequencing of all coding exons of the gene 2.3
HSD3B7 Bile acid synthesis defect, congenital, 1 Sequencing of all coding exons of the gene 1.1
HSF4 Cataracts, autosomal recessive Sequencing of all coding exons of the gene 1.5
HTRA1 CARASIL syndrome Sequencing of all coding exons of the gene 1.4
HTT Huntington Disease, HD Fragment length analysis 9.4
IDS Mucopolysaccharidosis Type II Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
IL1RAPL1 Mental retardation, X-linked 21/34 Sequencing of all coding exons of the gene 2.1
IL36RN Psoriasis 14, pustular Sequencing of all coding exons of the gene 0.5
IRF6 Van der Woude-Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
ISCU Myopathy with lactic acidosis (hereditary) Sequencing of all coding exons of the gene 0.5
ISPD Congenital Muscular Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
IYD Thyroid dyshormonogenesis 4 Sequencing of all coding exons of the gene 0.9
JAG1 Alagille syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
JAG1 Tetralogy of Fallot Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
JAGN1 Neutropenia, servere congenital, 6, autosomal recessive Sequencing of all coding exons of the gene 0.6
JAK2 JAK2-Related Budd-Chiari Syndrome Sequencing of all coding exons of the gene 3.4
JPH3 Huntington disease-like 2 (HDL2) Fragment length analysis 2.2
KCNA1 Episodic Ataxia - Type 1 Sequencing of all coding exons of the gene 1.5
KCNC3 Spinocerebellar Ataxia Type13 Sequencing of all coding exons of the gene 2.3
KCND3 Brugada syndrome 9 Sequencing of all coding exons of the gene 2
KCND3 Spinocerebellar ataxia 19 Sequencing of all coding exons of the gene 2
KCNE1 Jervell and Lange-Nielsen Syndrome (Long-QT-Syndrome) Sequencing of all coding exons of the gene 0.4
KCNE1 Romano-Ward Syndrome (Long-QT-Syndrome) Sequencing of all coding exons of the gene 0.4
KCNE3 Brugada syndrome 6 Sequencing of all coding exons of the gene 0.3
KCNJ10 Enlarged vestibular aqueduct, digenic Sequencing of all coding exons of the gene 1.1
KCNJ10 SESAME syndrome Sequencing of all coding exons of the gene 1.1
KCNJ2 Andersen syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
KCNJ2 Atrial fibrillation, familial, 9 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
KCNJ2 Short QT syndrome 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
KCNJ5 Hyperaldosteronism, familial, type III Sequencing of all coding exons of the gene 1.3
KCNJ8 Cantu Syndrome Sequencing of all coding exons of the gene 1.3
KCNK18 Migraine, with or without aura, susceptibility to, 13 Sequencing of all coding exons of the gene 1.2
KCNMA1 Generalised epilepsy with paroxysmal dyskinesia Sequencing of all coding exons of the gene 3.7
KCNQ2 Benign neonatal Epilepsy Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.6
KCNQ3 Benign neonatal Epilepsy Sequencing of all coding exons of the gene Deletion and duplication analysis 2.6
KCNT1 Epileptic Encephalopathy Sequencing of all coding exons of the gene 3.7
KCNT1 Nocturnal frontal lobe Epilepsy Sequencing of all coding exons of the gene 3.7
KCNV2 Retinal Cone Dystrophy 3B Sequencing of all coding exons of the gene 1.6
KCTD17 Dystonia 26, myoclonic Sequencing of all coding exons of the gene 0.9
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions Sequencing of all coding exons of the gene 0.9
KIAA1549 Retinitis Pigmentosa Sequencing of all coding exons of the gene 5.9
KIF1A Mental retardation, autosomal dominant 9 Sequencing of all coding exons of the gene 5.4
KIF1A Neuropathy, hereditary sensory, type IIC Sequencing of all coding exons of the gene 5.4
KIF1A Spastic paraplegia 30 Sequencing of all coding exons of the gene 5.4
KIF1B Charcot-Marie-Tooth disease, type 2A1 Sequencing of all coding exons of the gene 5.3
KIF5A Spastic Paraplegia 10 Sequencing of all coding exons of the gene 3.1
KIT Gastrointestinal stromal tumor, familial Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
KIT Germ cell tumors Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
KIT Leukemia, acute myeloid Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
KIT Mast cell disease Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
KIT Piebaldism Sequencing of all coding exons of the gene Deletion and duplication analysis 2.9
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage Sequencing of all coding exons of the gene 11.9
KMT2A Wiedemann-Steiner syndrome Sequencing of all coding exons of the gene 11.9
KRAS Breast cancer, somatic Sequencing of all coding exons of the gene 0.6
KRAS Noonan syndrome Sequencing of all coding exons of the gene 0.6
KRT12 Meesmann corneal dystrophy Sequencing of all coding exons of the gene 1.5
KRT16 Pachyonychia congenita 1 Sequencing of all coding exons of the gene 1.4
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal Sequencing of all coding exons of the gene 1.4
KRT5 Epidermolysis Bullosa Simplex, Dowling-Meara Type Sequencing of all coding exons of the gene 1.8
KRT5 Epidermolysis Bullosa Simplex, generalized Sequencing of all coding exons of the gene 1.8
KRT5 Epidermolysis bullosa simplex, Koebner type 1.8
KRT5 Epidermolysis Bullosa Simplex, localized Sequencing of all coding exons of the gene 1.8
KRT5 Epidermolysis bullosa simplex, recessive 1 1.8
KRT5 Epidermolysis bullosa simplex, Weber-Cockayne type 1.8
KRT5 Epidermolysis bullosa simplex-MP 1.8
KRT5 Epidermylysis bullosa simplex-MCR 1.8
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse Sequencing of all coding exons of the gene 1.7
L1CAM Corpus callosum, partial agenesis of Sequencing of all coding exons of the gene 3.8
L1CAM CRASH syndrome Sequencing of all coding exons of the gene 3.8
L1CAM Hydrocephalus due to aqueductal stenosis Sequencing of all coding exons of the gene 3.8
L1CAM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction Sequencing of all coding exons of the gene 3.8
L1CAM Hydrocephalus with Hirschsprung disease Sequencing of all coding exons of the gene 3.8
L1CAM MASA syndrome Sequencing of all coding exons of the gene 3.8
L2HGDH L-2-Hydroxyglutaric Aciduria Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.4
LAMA1 Poretti-Boltshauser syndrome Sequencing of all coding exons of the gene 9.2
LAMA2 Muscular dystrophy, congenital Sequencing of all coding exons of the gene; Deletion and duplication analysis 9.4
LARS Infantile liver failure syndrome 1 Sequencing of all coding exons of the gene 3.5
LBR Greenberg Dysplasia Sequencing of all coding exons of the gene 1.8
LDLR Autosomal dominant familial hypercholesterolemia (LDL receptor mutation) Sequencing of all coding exons of the gene 2.6
LEP Obesity, morbid, due to leptin deficiency Sequencing of all coding exons of the gene 0.5
LGI1 Temporal lobe Epilepsy  Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
LHCGR Leydig cell adenoma, somatic, with precocious puberty Sequencing of all coding exons of the gene 2.1
LHCGR Leydig cell hypoplasia with hypergonadotropic hypogonadism Sequencing of all coding exons of the gene 2.1
LHCGR Leydig cell hypoplasia with pseudohermaphroditism Sequencing of all coding exons of the gene 2.1
LHCGR Luteinizing hormone resistance, female Sequencing of all coding exons of the gene 2.1
LHCGR Precocious puberty, male Sequencing of all coding exons of the gene 2.1
LHON Leber optic atrophy Sequencing of hotspots 2.9
LHX3 Pituitary hormone deficiency, combined, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
LMNA Cardiomyopathy, dilated, 1A Sequencing of all coding exons of the gene 2
LMNA Charcot-Marie-Tooth disease, type 2B1 Sequencing of all coding exons of the gene 2
LMNA Emery-Dreifuss muscular dystrophy 2, AD Sequencing of all coding exons of the gene 2
LMNA Emery-Dreifuss muscular dystrophy 3, AR Sequencing of all coding exons of the gene 2
LMNA Heart-hand syndrome, Slovenian type Sequencing of all coding exons of the gene 2
LMNA Hutchinson-Gilford progeria Sequencing of all coding exons of the gene 2
LMNA Lipodystrophy, familial partial, 2 Sequencing of all coding exons of the gene 2
LMNA Malouf syndrome Sequencing of all coding exons of the gene 2
LMNA Mandibuloacral dysplasia Sequencing of all coding exons of the gene 2
LMNA Muscular dystrophy, congenital Sequencing of all coding exons of the gene 2
LMNA Muscular dystrophy, limb-girdle, type 1B Sequencing of all coding exons of the gene 2
LMNA Restrictive dermopathy, lethal Sequencing of all coding exons of the gene 2
LMNB1 Leukodystrophy, Adult-Onset, Autosomal Dominant Deletion and duplication analysis Sequencing of all coding exons of the gene 1.8
LMX1B Nail-patella syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
LPIN1 Autosomal recessive acute recurrent Myoglobinuria Sequencing of all coding exons of the gene 2.9
LRAT Leber Congenital Amaurosis Sequencing of all coding exons of the gene 0.7
LRAT Retinitis Pigmentosa Sequencing of all coding exons of the gene 0.7
LRP5 Familial Exudative Vitreoretinopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
LRP5 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
LRP5 Osteoporosis Pseudoglioma Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
LRP5 Van Buchem Disease, Type 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 4.8
LRRC6 Ciliary dyskinesia, primary, 19 Sequencing of all coding exons of the gene 1.4
LRRK2 Parkinson Syndrome Sequencing of hotspots 7.6
LYST Chediak-Higashi syndrome Sequencing of all coding exons of the gene 11.4
LYZ Amyloidosis, renal Sequencing of all coding exons of the gene 0.4
MAGEL2 Schaaf-Yang syndrome Sequencing of all coding exons of the gene 3.8
MAN2B1 Alpha-Mannosidosis Sequencing of all coding exons of the gene 3
MAPK10 Epileptic encephalopathy, Lennox-Gastaut type Sequencing of all coding exons of the gene 1.4
MAPT Frontotemporal Dementia Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
MARS2 Spastic ataxia 3 Sequencing of all coding exons of the gene 1.8
MASP1 3MC syndrome 1 Sequencing of all coding exons of the gene 2.2
MATN3 Multiple epiphyseal Dysplasia  Sequencing of hotspots Sequencing of all coding exons of the gene 1.5
MBD5 Mental retardation, autosomal dominant 1 Deletion and duplication analysis Sequencing of all coding exons of the gene 4.5
MC1R Albinism, oculocutaneous, type II, modifier of Sequencing of all coding exons of the gene 1
MC1R Melanoma, cutaneous malignant, 5 Sequencing of all coding exons of the gene 1
MC1R UV-induced skin damage Sequencing of all coding exons of the gene 1
MCOLN1 Mucolipidosis IV Sequencing of all coding exons of the gene 1.7
MED13L Transposition of the great arteries, dextro-looped 1 Sequencing of all coding exons of the gene 6.6
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy Sequencing of all coding exons of the gene 2
MEF2C Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.5
MEFV - HS1 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT Sequencing of hotspots Sequencing of all coding exons of the gene 1.8
MEFV - HS1 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE Sequencing of hotspots Sequencing of all coding exons of the gene 1.8
MEFV - HS2 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT Sequencing of hotspots Sequencing of all coding exons of the gene 1.6
MEFV - HS2 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE Sequencing of hotspots Sequencing of all coding exons of the gene 1.6
MEFV - HS3 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT Sequencing of hotspots Sequencing of all coding exons of the gene 0.8
MEFV - HS3 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE Sequencing of hotspots Sequencing of all coding exons of the gene 0.8
MEN1 Hyperparathyroidism 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
MEN1 Multiple Endocrine Neoplasia Type 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
MEOX1 Klippel-Feil syndrome 2 Sequencing of all coding exons of the gene 0.8
MFN2 Charcot-Marie-Tooth Neuropathy Type 2A2 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
MFSD8 Neuronal Ceroid-Lipofuscinosis Sequencing of all coding exons of the gene 1.6
MFSD8 Progressive epilepsy intellectual disability syndrome, Finnish type Sequencing of all coding exons of the gene 1.6
MGAT2 CDG-Syndrome 2A Sequencing of all coding exons of the gene 1.3
MGME1 Mitochondrial DNA depletion syndrome 11 Sequencing of all coding exons of the gene 1
MID1 Opitz GBBB Syndrome 1 (X-linked) Sequencing of all coding exons of the gene; Deletion and duplication analysis 2
MITF Tietz Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
MITF Waardenburg Syndrome Type IIA Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
MOCS1 Molybdenum Cofactor Deficiency Sequencing of all coding exons of the gene 1.2
MPDZ Nonsyndromic Hydrocephalus, autosomal recessive 2 Sequencing of all coding exons of the gene 6.1
MPI Congenital disorder of glycosylation, type Ib Sequencing of all coding exons of the gene 1.3
MPL Myelofibrosis with myeloid metaplasia, somatic Sequencing of all coding exons of the gene 1.9
MPL Thrombocythemia 2 Sequencing of all coding exons of the gene 1.9
MPL Thrombocytopenia, congenital amegakaryocytic Sequencing of all coding exons of the gene 1.9
MPZ Charcot-Marie-Tooth Neuropathy Type 2I Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
MPZ Charcot-Marie-Tooth Neuropathy Type 2J Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
MRE11 Ataxia Teleangiectatica (AT) Sequencing of all coding exons of the gene 2.1
MSH3 Endometrial carcinoma, somatic Sequencing of all coding exons of the gene 3.4
MSX1 Orofacial Cleft 5 Sequencing of all coding exons of the gene 0.9
MSX1 Tooth Agenesis, Selective, 1 Sequencing of all coding exons of the gene 0.9
MSX1 Witkop Syndrome Sequencing of all coding exons of the gene 0.9
mtDNA Mitochondriopathies Whole DNA sequencing 16.6
MTM1 X-Linked Centronuclear Myopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
MTTP Abetalipoproteinemia Sequencing of all coding exons of the gene 2.7
MUSK FETAL AKINESIA DEFORMATION SEQUENCE; FADS Sequencing of all coding exons of the gene 2.6
MUSK MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9 Sequencing of all coding exons of the gene 2.6
MUTYH Colorectal adenomatous polyposis Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
MVK Hyper-IgD syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 1.2
MVK Mevalonic aciduria Sequencing of hotspots Sequencing of all coding exons of the gene 1.2
MVK Porokeratosis 3, disseminated superficial actinic Sequencing of hotspots Sequencing of all coding exons of the gene 1.2
MYBPC3 Cardiomyopathy, dilated Sequencing of all coding exons of the gene Deletion and duplication analysis 3.8
MYCN Feingold syndrome Sequencing of all coding exons of the gene 1.4
MYH11 Aortic aneurysm, familial thoracic 4 Sequencing of all coding exons of the gene 5.9
MYH3 Arthrogryposis, distal, type 2A Sequencing of all coding exons of the gene 5.8
MYH3 Arthrogryposis, distal, type 2B Sequencing of all coding exons of the gene 5.8
MYH3 Freeman-Sheldon Syndrome Sequencing of all coding exons of the gene 5.8
MYH7 Cardiomyopathy, dilated Sequencing of all coding exons of the gene Deletion and duplication analysis 5.8
MYH7 Left ventricular noncompaction 5 Sequencing of all coding exons of the gene Deletion and duplication analysis 5.8
MYH7 MYH7-Related Myosin Storage Myopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 5.8
MYH9 Deafness, autosomal dominant 17 Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
MYH9 Epstein syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
MYH9 Fechtner syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
MYH9 Macrothrombocytopenia and progressive sensorineural deafness Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
MYH9 May-Hegglin anomaly Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
MYH9 Sebastian syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 5.9
NAGLU Charcot-Marie-Tooth disease, axonal, type 2V Sequencing of all coding exons of the gene 2.2
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) Sequencing of all coding exons of the gene 2.2
NDE1 Lissencephaly 4 (with microcephaly) Sequencing of all coding exons of the gene 1
NDE1 Microhydranencephaly Sequencing of all coding exons of the gene 1
NDP Retinopathy Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.4
NELFA Wolf-Hirschhorn Syndrome Sequencing of all coding exons of the gene 1.6
NF1 Familial Spinal Neurofibromatosis Sequencing of all coding exons of the gene Deletion and duplication analysis 8.5
NF1 Neurofibromatosis 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 8.5
NF1 Neurofibromatosis-Noonan Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 8.5
NF1 Watson Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 8.5
NF2 Neurofibromatosis 2 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.8
NFIX Marshall-Smith Syndrome Sequencing of all coding exons of the gene 1.5
NFIX Sotos Syndrome Sequencing of all coding exons of the gene 1.5
NGF Hereditary Sensory and Autonomic Neuropathy Type V Sequencing of all coding exons of the gene 0.7
NHEJ1 SCID Sequencing of all coding exons of the gene 0.9
NHLRC1 Lafora Disease Sequencing of all coding exons of the gene 1.2
NIPBL Cornelia de Lange Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 8.4
NKX2-1 Benign Chorea Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
NKX2-5 Congenital Hypothyroidism Sequencing of all coding exons of the gene Deletion and duplication analysis 1
NLGN3 Asperger syndrome susceptibility, X-linked 1 Sequencing of all coding exons of the gene 2.5
NLGN3 Autism susceptibility, X-linked 1 Sequencing of all coding exons of the gene 2.5
NLGN4X Asperger syndrome susceptibility, X-linked 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
NLGN4X Autism susceptibility, X-linked 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
NLGN4X Mental retardation, X-linked Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
NLRC4 Autoinflammation with infantile enterocolitis Sequencing of all coding exons of the gene 3.1
NLRC4 Familial cold autoinflammatory syndrome 4 Sequencing of all coding exons of the gene 3.1
NLRP3 Chronic Infantile Neurological Cutaneous and Articular Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 3.1
NLRP3 Familial Cold Autoinflamma- tory Syndrome (FCAS)  Sequencing of hotspots Sequencing of all coding exons of the gene 3.1
NLRP3 Muckle-Wells Syndrome Sequencing of hotspots Sequencing of all coding exons of the gene 3.1
NME8 Ciliary dyskinesia, primary, 6 Sequencing of all coding exons of the gene 1.8
NOD2 Blau syndrome/early-onset sarcoidosis (mutation in exon 4 of the NOD2 gene) Sequencing of all coding exons of the gene 3.1
NOD2 Inflammatory bowel disease 1 (analysis of the three most frequent predisposing mutations in the NOD2 gene) Sequencing of all coding exons of the gene 3.1
NOL3 Myoclonus, familial cortical Sequencing of all coding exons of the gene 0.8
NOTCH3 CADASIL Sequencing of all coding exons of the gene 7
NPC1 Niemann-Pick Disease  Type C Sequencing of all coding exons of the gene Deletion and duplication analysis 3.8
NPC2 Niemann-Pick Disease  Type C Sequencing of all coding exons of the gene Deletion and duplication analysis 0.5
NPHP1 Joubert Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.2
NPHP1 Senior-Loken syndrome 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.2
NPHP3 Meckel Syndrome Sequencing of all coding exons of the gene 4
NPHP4 Senior-Loken syndrome 4 Sequencing of all coding exons of the gene 4.3
NR2E3 Goldmann-Favre-Syndrome Sequencing of all coding exons of the gene 1.2
NR2E3 Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.2
NRXN1 Pitt-Hopkins-Like Syndrome 2 Sequencing of all coding exons of the gene; Deletion and duplication analysis 4.6
NSD1 Sotos Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 8.1
NSD1 Weaver Syndrome 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 8.1
NYX Congenital Stationary Night-Blindness Sequencing of all coding exons of the gene 1.4
OAT Gyrate atrophy of choroid and retina with or without ornithinemia Sequencing of all coding exons of the gene 1.3
OCA2 Albinism, brown oculocutaneous Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
OCA2 Albinism, oculocutaneous, type II Sequencing of all coding exons of the gene Deletion and duplication analysis 2.5
OCRL Dent disease type 2 Sequencing of all coding exons of the gene 2.7
OCRL Lowe syndrome Sequencing of all coding exons of the gene 2.7
OFD1 Joubert Syndrome Sequencing of all coding exons of the gene 3
OFD1 Oral-Facial-Digital Syndrome Type 1 Sequencing of all coding exons of the gene 3
OFD1 Simpson-Golabi-Behmel Syndrome Type 2 Sequencing of all coding exons of the gene 3
OGDH Alpha-ketoglutarate dehydrogenase deficiency Sequencing of all coding exons of the gene 3.1
OPA1 Optic Atrophy  Sequencing of all coding exons of the gene Deletion and duplication analysis 3
OPA3 Optic Atrophy  Sequencing of all coding exons of the gene 0.5
OPHN1 X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance Sequencing of all coding exons of the gene 2.4
OPTN Glaucoma, Open Angle Sequencing of all coding exons of the gene 1.7
ORAI1 Immunodeficiency 9 Sequencing of all coding exons of the gene 0.9
ORAI1 Myopathy, tubular aggregate, 2 Sequencing of all coding exons of the gene 0.9
ORC4 Meier-Gorlin Syndrome 2 Sequencing of all coding exons of the gene 1.3
ORC6 Meier-Gorlin Syndrome 3 Sequencing of all coding exons of the gene 0.8
OTOF DFNB 1 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene 6
OTX2 Microphthalmia, syndromic 5 Sequencing of all coding exons of the gene 0.9
OTX2 Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction Sequencing of all coding exons of the gene 0.9
P2RX7 Chronic lymphocytic leukemia (CLL) Sequencing of all coding exons of the gene 1.8
PABPN1 Oculopharyngeal Muscular Dystrophy Sequencing of all coding exons of the gene 0.9
PAFAH1B1 Lissencephaly Deletion and duplication analysis Sequencing of all coding exons of the gene 1.2
PAH Phenylketonuria Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
PALB2 Hereditary Breast Cancer Sequencing of all coding exons of the gene Deletion and duplication analysis 3.6
PANK2 Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
PARK2 Juvenile Parkinson Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.4
PARK7 Juvenile Parkinson Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.6
PAX6 Aniridia Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.3
PAX6 Cataract with late-onset corneal dystrophy Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.3
PAX6 Coloboma of optic nerve Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.3
PAX6 Coloboma, ocular Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.3
PAX8 Congenital Hypothyroidism Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
PCDH19 Epileptic Encephalopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 3.4
PDE4D Acrodysostosis 2, with or without hormone resistance Sequencing of all coding exons of the gene 2.4
PDE6C Achromatopsia Sequencing of all coding exons of the gene 2.6
PDE6H Retinal Cone Dystrophy 3A Sequencing of all coding exons of the gene 0.3
PDHA1 Pyruvate Dehydrogenase (PDH)-Deficiency Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.3
PEX1 Peroxisome Biogenesis Disorders (PBD) Sequencing of all coding exons of the gene 3.9
PEX1 Zellweger Syndrome Sequencing of all coding exons of the gene 3.9
PEX10 Zellweger Syndrome Sequencing of all coding exons of the gene 1
PEX12 Zellweger Syndrome Sequencing of all coding exons of the gene 1.1
PEX2 Zellweger Syndrome Sequencing of all coding exons of the gene 0.9
PEX26 Zellweger Syndrome Sequencing of all coding exons of the gene 0.9
PEX5 Zellweger Syndrome Sequencing of all coding exons of the gene 2
PEX6 Zellweger Syndrome Sequencing of all coding exons of the gene 2.9
PEX7 Peroxisome Biogenesis Disorders (PBD) Sequencing of all coding exons of the gene 1
PFN1 Cardiac Diseases Sequencing of all coding exons of the gene 0.4
PGAM2 Glycogen Storage Disease X Sequencing of all coding exons of the gene 0.8
PGK1 Phosphoglycerate kinase 1 deficiency Sequencing of all coding exons of the gene 1.3
PHEX Hypophosphatemic rickets, X-linked dominant Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
PHF6 Borjeson-Forssman-Lehmann Syndrome Sequencing of all coding exons of the gene 1.1
PHYH Refsum disease Sequencing of all coding exons of the gene 1
PIGA Paroxysomal Nocturnal Hemoglobinuria Sequencing of all coding exons of the gene 1.5
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Sequencing of all coding exons of the gene 2.2
PINK1 Juvenile Parkinson Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
PITX2 Axenfeld-Rieger Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 1
PITX2 Peters Anomaly Sequencing of all coding exons of the gene; Deletion and duplication analysis 1
PKHD1 Polycystic kidney and hepatic disease Sequencing of all coding exons of the gene Deletion and duplication analysis 12.2
PKLR Pyruvate kinase deficiency Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
PLA2G6 Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene Deletion and duplication analysis 2.4
PLA2G6 Parkinsonism and Dystonia Sequencing of all coding exons of the gene Deletion and duplication analysis 2.4
PLCB1 Epileptic Encephalopathy, Early Infantile, 12 Sequencing of all coding exons of the gene; Deletion and duplication analysis 3.7
PLCB1 Epileptic Encephalopathy, Early Infantile, 12 Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.7
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome Deletion and duplication analysis Sequencing of all coding exons of the gene 3.8
PLCG2 Familial cold autoinflammatory syndrome 3 Deletion and duplication analysis Sequencing of all coding exons of the gene 3.8
PLEC Epidermolysis bullosa simplex with muscular dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 14.1
PLEC Epidermolysis bullosa simplex with nail dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 14.1
PLEC Epidermolysis bullosa simplex with pyloric atresia Sequencing of all coding exons of the gene Deletion and duplication analysis 14.1
PLEC Epidermolysis bullosa simplex, Ogna type Sequencing of all coding exons of the gene Deletion and duplication analysis 14.1
PLEC Muscular dystrophy, limb-girdle, type 2Q Sequencing of all coding exons of the gene Deletion and duplication analysis 14.1
PLP1 Pelizaeus-Merzbacher disease Deletion and duplication analysis Sequencing of all coding exons of the gene 0.8
PLP1 Spastic paraplegia 2, X-linked Deletion and duplication analysis Sequencing of all coding exons of the gene 0.8
PMM2 CDG-Syndrome 1A Sequencing of all coding exons of the gene 0.7
PMP22 Charcot-Marie-Tooth Neuropathy Type 1A Deletion and duplication analysis Sequencing of all coding exons of the gene 0.5
PMP22 Hereditary Neuropathy with liability to pressure palsies Deletion and duplication analysis Sequencing of all coding exons of the gene 0.5
PNKD Paroxysmal nonkinesiogenic  dyskinesia 1 PNKD1 Sequencing of all coding exons of the gene 1.2
PNKP Epileptic encephalopathy, early infantile, 10 Sequencing of all coding exons of the gene 1.6
PNPLA3 Susceptibility to nonalcoholic fatty liver disease (PNPLA3 gene) Sequencing of all coding exons of the gene 1.4
PNPO Pyridoxamine 5-prime-phosphate oxidase deficiency Sequencing of all coding exons of the gene 0.8
POLE FILS syndrome Sequencing of all coding exons of the gene 6.9
POLG Alpers Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
POLG Mitochondrial recessive Ataxia Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
POLG POLG-Related Ataxia Neuropathy Spectrum Disorders Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
POLG Progressive external  Ophthalmoplegia Sequencing of all coding exons of the gene Deletion and duplication analysis 3.7
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Sequencing of all coding exons of the gene 1.5
POLR1C Leukodystrophy, hypomyelinating, 11 Sequencing of all coding exons of the gene 1
POLR1C Treacher Collins syndrome 3 Sequencing of all coding exons of the gene 1
POLR1D Treacher Collins syndrome 2 Sequencing of all coding exons of the gene 0.4
POLR3A Leukodystrophy, hypomyelinating, 7 Sequencing of all coding exons of the gene 4.2
POU1F1 Pituitary hormone deficiency, combined, 1 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1
PPM1K Maple syrup urine disease, mild variant Sequencing of all coding exons of the gene 1.1
PPT1 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
PQBP1 Renpenning Syndrome 1 Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.8
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2 Sequencing of all coding exons of the gene 1.7
PRF1 Lymphoma, non-Hodgkin Sequencing of all coding exons of the gene 1.7
PRICKLE1 Progressive Myoclonus Epilepsy with Ataxia Sequencing of all coding exons of the gene 2.5
PRICKLE1 Progressive Myoclonus Epilepsy with Ataxia Sequencing of all coding exons of the gene 2.5
PRKAR1A Carney Complex Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
PRKCG Spinocerebellar ataxia 14 Sequencing of all coding exons of the gene 2.1
PRKRA Dystonia 16 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
PRKRA Early Onset Dystonia with Parkinsonism Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
PRNP Genetic Prion Disease Sequencing of all coding exons of the gene 0.8
PROC THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 Sequencing of all coding exons of the gene 1.4
PROK1 Hirschsprung Disease Sequencing of all coding exons of the gene 0.3
PROM1 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 2.6
PROP1 Pituitary hormone deficiency, combined, 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.7
PRPF31 Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
PRPH2 Adult-Onset Vitelliform Macular Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 1
PRPH2 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene Deletion and duplication analysis 1
PRPH2 Patterned Dystrophy of Retinal Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis 1
PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1
PRPS1 Charcot-Marie-Tooth Neuropathy X Type 5 Sequencing of all coding exons of the gene 1
PRPS1 DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene 1
PRRT2 Familial paroxysmal kinesigenic dyskinesia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
PRSS1 Pancreatitis, hereditary Sequencing of all coding exons of the gene 0.7
PRSS1 Trypsinogen deficiency Sequencing of all coding exons of the gene 0.7
PSAP Encephalopathy due to prosaposin deficiency Sequencing of all coding exons of the gene 1.6
PSAP Gaucher disease Sequencing of all coding exons of the gene 1.6
PSAP Metachromatic Leukodystrophy Sequencing of all coding exons of the gene 1.6
PSEN1 Alzheimer Dementia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
PSEN2 Alzheimer Dementia Sequencing of all coding exons of the gene 1.3
PSMB8 Autoinflammation, lipodystrophy, and dermatosis syndrome (Nakajo-Nishimura or CANDLE syndrome; PSMB8 gene) Sequencing of all coding exons of the gene 0.8
PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Sequencing of all coding exons of the gene 1.3
PTCH1 Holoprosencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 4.3
PTCH2 Basal cell carcinoma, somatic Sequencing of all coding exons of the gene 3.6
PTCH2 Basal cell nevus syndrome Sequencing of all coding exons of the gene 3.6
PTCH2 Medulloblastoma, desmoplastic Sequencing of all coding exons of the gene 3.6
PTDSS1 Lenz-Majewski hyperostotic dwarfism Sequencing of all coding exons of the gene 1.4
PTEN Bannayan-Riley-Ruvalcaba syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.2
PTEN Cowden syndrome 1 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.2
PTEN Lhermitte-Duclos syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.2
PTEN Macrocephaly/Autism Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.2
PTH HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT Sequencing of all coding exons of the gene 0.3
PTH HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE Sequencing of all coding exons of the gene 0.3
PTPN11 LEOPARD syndrome 1 Sequencing of all coding exons of the gene 1.8
PTPN11 Leukemia, juvenile myelomonocytic, somatic Sequencing of all coding exons of the gene 1.8
PTPN11 Metachondromatosis Sequencing of all coding exons of the gene 1.8
PTPN11 Noonan syndrome 1 Sequencing of all coding exons of the gene 1.8
PTRF Kongenitale generalisierte Lipodystrophie mit Muskeldystrophie Sequencing of all coding exons of the gene 1.2
PTS 6-Pyruvoyltetrahydropterin Synthase Deficiency Sequencing of all coding exons of the gene 0.4
PYGM Glycogen Storage Disease Type V Sequencing of all coding exons of the gene 2.5
QDPR Dihydropteridine reductase deficiency Sequencing of all coding exons of the gene 0.7
RAB3GAP1 Warburg Micro Syndrome 1 Sequencing of all coding exons of the gene 3
RAD21 Cornelia de Lange Syndrome Sequencing of all coding exons of the gene 1.9
RAD51 Mirror movements 2 Sequencing of all coding exons of the gene 1
RAD51D RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer Sequencing of all coding exons of the gene Deletion and duplication analysis 1
RAI1 Smith-Magenis-Syndrome (SMS) Sequencing of all coding exons of the gene 5.7
RAPSN Myasthenic Syndrome Sequencing of all coding exons of the gene 1.2
RARS2 Pontocerebellar Hypoplasia Type 6 Sequencing of all coding exons of the gene 1.7
RBBP8 Jawad Syndrome Sequencing of all coding exons of the gene 2.7
RBBP8 Seckel Syndrome Sequencing of all coding exons of the gene 2.7
RBM10 TARP syndrome Sequencing of all coding exons of the gene 2.8
RBP3 Retinitis Pigmentosa Sequencing of all coding exons of the gene 3.7
REEP1 Spastic Paraplegia 31 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.6
REPS1 Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene 2.4
RHO Night blindness, congenital stationary, autosomal dominant 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1
RHO Retinitis pigmentosa 4, autosomal dominant or recessive Sequencing of all coding exons of the gene Deletion and duplication analysis 1
RHO Retinitis punctata albescens Sequencing of all coding exons of the gene Deletion and duplication analysis 1
RLBP1 Bothnia Retinal Dysfunction Sequencing of all coding exons of the gene 1
RLBP1 Cone-Rod-Dystrophy Sequencing of all coding exons of the gene 1
RLBP1 Fundus albipunctatus Sequencing of all coding exons of the gene 1
RLBP1 Retinis Punctata Sequencing of all coding exons of the gene 1
RNASEH2B Aicardi-Goutieres syndrome 2 Sequencing of all coding exons of the gene 0.9
RNASET2 Leukoencephalopathy, cystic, without megalencephaly Sequencing of all coding exons of the gene 0.8
ROBO3 Horizontal Gaze Palsy and Scoliosis Sequencing of all coding exons of the gene 4.2
ROGDI Kohlschutter-Tonz Syndrome Sequencing of all coding exons of the gene 0.9
RP1 Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 6.5
RP1L1 Occult Macular Dystrophy (OCMD) Sequencing of all coding exons of the gene 7.2
RP2 Retinitis Pigmentosa Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.1
RPE65 Autosomal Dominant  Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
RPE65 Autosomal Recessive Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
RPE65 Leber Congenital Amaurosis 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
RPGR Retinitis Pigmentosa Sequencing of all coding exons of the gene Deletion and duplication analysis 3.5
RRM2B Mitochondrial DNA Depletion Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
RS1 X-Linked Juvenile Retinoschisis Sequencing of all coding exons of the gene 0.7
RSPH1 Ciliary dyskinesia, primary, 24 Sequencing of all coding exons of the gene 0.9
RUNX2 Cleidocranial dysplasia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
RUNX2 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
SAA1 Susceptibility to amyloidosis (SAA1 amino acids 70 and 75 encoded by exon 3) Sequencing of hotspots 0.4
SACS Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay Sequencing of all coding exons of the gene Deletion and duplication analysis 13.7
SALL1 Townes-Brocks branchiootorenal-like syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4
SALL1 Townes-Brocks syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 4
SALL4 Duane-radial ray syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.2
SALL4 IVIC syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.2
SAMHD1 Aicardi-Goutieres syndrome 5 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.9
SAMHD1 Chilblain lupus 2 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.9
SBDS Shwachman Diamond Syndrome Sequencing of all coding exons of the gene 0.8
SCN1A Familial hemiplegic Migraine Type 3  Deletion and duplication analysis; Sequencing of all coding exons of the gene 6
SCN1A Generalised Epilepsy with febrile seizures plus (GEFS+) Deletion and duplication analysis; Sequencing of all coding exons of the gene 6
SCN1B Generalised Epilepsy with febrile seizures plus (GEFS+) Sequencing of all coding exons of the gene 0.8
SCN2A Generalised Epilepsy with febrile seizures plus (GEFS+) Sequencing of all coding exons of the gene 6
SCN3A Focal epilepsy Sequencing of all coding exons of the gene 6
SCN4A Myasthenic Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 5.5
SCN4A Paramyotonia Congenita  Sequencing of all coding exons of the gene Deletion and duplication analysis 5.5
SCN8A Epileptic Encephalopathy, Early Infantile, 13 Sequencing of all coding exons of the gene 5.9
SCN9A Congenital Indifference to Pain, Autosomal Recessive Sequencing of all coding exons of the gene 5.9
SCN9A Generalised Epilepsy with febrile seizures plus (GEFS+) Sequencing of all coding exons of the gene 5.9
SCN9A Inherited Erythromelalgia Sequencing of all coding exons of the gene 5.9
SCN9A Paroxysmal Extreme Pain Disorder Sequencing of all coding exons of the gene 5.9
SCNN1B Pseudohypoaldosteronism Type 1 Sequencing of all coding exons of the gene 1.9
SCNN1G Pseudohypoaldosteronism Type 1 Sequencing of all coding exons of the gene 2
SCP2 Leukoencephalopathy with dystonia and motor neuropathy Sequencing of all coding exons of the gene 1.6
SDHAF2 Paragangliomas 2 Sequencing of all coding exons of the gene 0.5
SDHB Cowden-Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.8
SDHB Hereditary Paraganglioma-Pheochromocytoma Syndromes Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.8
SDHB Paraganglioma and Gastric Stromal Sarcoma Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.8
SDHD Cowden-Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.5
SDHD Hereditary Paraganglioma-Pheochromocytoma Syndromes Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.5
SDHD Paraganglioma and Gastric Stromal Sarcoma Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.5
SEMA3E CHARGE Syndrome Sequencing of all coding exons of the gene 2.3
SEPT9 Amyotrophy, hereditary neuralgic Sequencing of all coding exons of the gene Deletion and duplication analysis 1.8
SERPINC1 Thrombophilia due to Antithrombin III Deficiency Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.4
SERPING1 Angioedema, hereditary, types I and II Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
SERPING1 Complement component 4, partial deficiency of Sequencing of all coding exons of the gene Deletion and duplication analysis 1.5
SETBP1 Schinzel-Giedion Midface Retraction Syndrome Sequencing of all coding exons of the gene 4.8
SETX Cardiac Diseases Sequencing of all coding exons of the gene Deletion and duplication analysis 8
SETX Spinocerebellar Ataxia with Axonal Neuropathy Type 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 8
SFTPB Pulmonary surfactant metabolism dysfunction type 1 (Surfactant protein B deficiency; SFTPB gene) Sequencing of all coding exons of the gene 1.2
SFTPB Surfactant metabolism dysfunction, pulmonary, 1 Sequencing of all coding exons of the gene 1.2
SFTPC Surfactant metabolism dysfunction, pulmonary, 2 Sequencing of all coding exons of the gene 0.6
SGCE Myclonus Dystonia Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SGSH Mucopolysaccharidosis Type IIIA Sequencing of all coding exons of the gene 1.5
SHH Holoprosencephaly-3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SHH Microphthalmia with coloboma 5 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SHH Schizencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SHH Schizencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SHH Single median maxillary central incisor Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SIL1 Marinesco-Sjögren-Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SIX3 Holoprosencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1
SIX3 Schizencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1
SIX3 Schizencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1
SLC12A3 Gitelman Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.1
SLC12A5 Epileptic encephalopathy, early infantile, 34 Sequencing of all coding exons of the gene 3.4
SLC16A12 Cataract, juvenile, with microcornea and glucosuria Sequencing of all coding exons of the gene 1.6
SLC17A5 Salla Disease Sequencing of all coding exons of the gene 1.5
SLC19A3 Biotin-Responsive Basal Ganglia Disease Sequencing of all coding exons of the gene 1.5
SLC1A3 Episodic Ataxia Type 6 Sequencing of all coding exons of the gene 1.6
SLC22A5 Carnitine deficiency, systemic primary Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
SLC25A15 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Sequencing of all coding exons of the gene 0.9
SLC25A19 Progressive demyelinating neuropathy Sequencing of all coding exons of the gene 1
SLC25A22 Epileptic Encephalopathy, Early Infantile, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 1
SLC25A3 Mitochondrial Phosphate Carrier Deficiency Sequencing of all coding exons of the gene 1.1
SLC26A2 Multiple epiphyseal Dysplasia  Sequencing of all coding exons of the gene 2.2
SLC26A4 Pendred Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
SLC26A5 DFNB61 Nonsyndromic Hearing Loss and Deafness Sequencing of all coding exons of the gene 2.2
SLC2A1 GLUT1 Deficiency Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.5
SLC2A10 Arterial tortuosity syndrome Sequencing of all coding exons of the gene 1.6
SLC30A10 Hypermanganesemia with dystonia, polycythemia, and cirrhosis Sequencing of all coding exons of the gene 1.5
SLC35A1 Congenital disorder of glycosylation, type IIf Sequencing of all coding exons of the gene 1
SLC35D1 Schneckenbecken dysplasia Sequencing of all coding exons of the gene 1.1
SLC36A2 Iminoglycinuria Sequencing of all coding exons of the gene 1.5
SLC3A1 Cystinuria Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.1
SLC40A1 Hereditary Hemochromatosis Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
SLC45A2 Albinism, oculocutaneous, type IV Sequencing of all coding exons of the gene 1.6
SLC46A1 Hereditary Folate Malabsorption Sequencing of all coding exons of the gene 1.4
SLC4A1 Ovalocytosis Sequencing of all coding exons of the gene 2.7
SLC4A1 Renal tubular acidosis, distal, AD Sequencing of all coding exons of the gene 2.7
SLC4A1 Renal tubular acidosis, distal, AR Sequencing of all coding exons of the gene 2.7
SLC4A1 Spherocytosis, type 4 Sequencing of all coding exons of the gene 2.7
SLC5A5 Thyroid dyshormonogenesis 1 Sequencing of all coding exons of the gene 1.9
SLC5A6 Association with brain, immune, bone, and intestinal dysfunction in a young child Sequencing of all coding exons of the gene 1.9
SLC6A1 MYOCLONIC-ATONIC EPILEPSY; MAE Sequencing of all coding exons of the gene 1.8
SLC6A20 Hyperglycinuria Sequencing of all coding exons of the gene 1.8
SLC6A20 Iminoglycinuria Sequencing of all coding exons of the gene 1.8
SLC6A3 Parkinsonism-dystonia, infantile Sequencing of all coding exons of the gene 1.9
SLC6A5 Hyperekplexia Sequencing of all coding exons of the gene Deletion and duplication analysis 2.4
SLC6A8 Cerebral creatine deficiency syndrome 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.9
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
SMAD4 Myhre syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
SMAD4 Polyposis, juvenile intestinal Sequencing of all coding exons of the gene Deletion and duplication analysis 1.7
SMC1A Cornelia de Lange Syndrome Sequencing of all coding exons of the gene 3.7
SMC3 Cornelia de Lange Syndrome Sequencing of all coding exons of the gene 3.7
SMPD1 Niemann-Pick Disease Type A / Type B Sequencing of all coding exons of the gene Deletion and duplication analysis 1.9
SMS X-linked mental Retardation, Snyder-Robinson Type Sequencing of all coding exons of the gene 1.1
SNAP29 CEDNIK syndrome Sequencing of all coding exons of the gene 0.8
SNCA Parkinson Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 0.4
SOX10 Waardenburg Syndrome Type 2E Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SOX10 Waardenburg Syndrome Type 4C Sequencing of all coding exons of the gene Deletion and duplication analysis 1.4
SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency Sequencing of all coding exons of the gene 1.3
SOX3 Panhypopituitarism, X-linked Sequencing of all coding exons of the gene 1.3
SPAST Spastic Paraplegia 4 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.9
SPATA5 Epilepsy, hearing loss and mental retardation syndrome Sequencing of all coding exons of the gene 2.7
SPG11 Spastic paraplegia 11 Sequencing of all coding exons of the gene Deletion and duplication analysis 7.3
SPG7 Spastic Paraplegia 7 Deletion and duplication analysis; Sequencing of all coding exons of the gene 2.4
SPINK1 Pancreatitis, hereditary Sequencing of all coding exons of the gene Deletion and duplication analysis 0.2
SPINK1 Tropical calcific pancreatitis Sequencing of all coding exons of the gene Deletion and duplication analysis 0.2
SPR Dopa-Responsive Dyst. due to Sepiapterin Red. Deficiency Sequencing of all coding exons of the gene 0.8
SPRED1 Legius syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 1.3
SPTAN1 Epileptic Encephalopathy, Early Infantile, 5 Sequencing of all coding exons of the gene 7.4
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA Sequencing of all coding exons of the gene 1.4
SRCAP Floating-Harbor syndrome Sequencing of all coding exons of the gene 9.7
SRPX2 Rolandic Epilepsy Sequencing of all coding exons of the gene 1.4
ST3GAL3 Epileptic encephalopathy, early infantile, 15 Sequencing of all coding exons of the gene 1.3
ST3GAL3 Mental retardation, autosomal recessive 12 Sequencing of all coding exons of the gene 1.3
STAT3 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 Deletion and duplication analysis Sequencing of all coding exons of the gene 2.3
STAT3 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Deletion and duplication analysis Sequencing of all coding exons of the gene 2.3
STK11 Peutz-Jeghers syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.3
STUB1 Spinocerebellar ataxia, autosomal recessive 16 Sequencing of all coding exons of the gene 0.9
STX16 Pseudohypoparathyroidism Ib Sequencing of all coding exons of the gene Deletion and duplication analysis 1
STXBP1 Epileptic Encephalopathy, Early Infantile, 4 Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.8
SUFU Basal cell nevus syndrome Sequencing of all coding exons of the gene 1.5
SUFU Medulloblastoma, desmoplastic Sequencing of all coding exons of the gene 1.5
SUOX Sulfite oxidase deficiency Sequencing of all coding exons of the gene 1.6
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders Sequencing of all coding exons of the gene 2.1
SYNGAP1 Mental retardation, autosomal dominant 5 Sequencing of all coding exons of the gene 4
TARDBP Cardiac Diseases Sequencing of all coding exons of the gene 1.2
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Sequencing of all coding exons of the gene 2.2
TBP Spinocerebellar Ataxia 17 Repeat expansion analysis 1
TCF4 Pitt-Hopkins Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 2.3
TCOF1 Treacher Collins Syndrome Sequencing of all coding exons of the gene; Deletion and duplication analysis 4.5
TECTA Deafness, autosomal dominant 8/12 Sequencing of all coding exons of the gene 6.5
TECTA Deafness, autosomal recessive 21 Sequencing of all coding exons of the gene 6.5
TEK Venous malformations, multiple cutaneous and mucosal Sequencing of all coding exons of the gene 3.4
TG Thyroid dyshormonogenesis 3 Sequencing of all coding exons of the gene 8.3
TGIF1 Holoprosencephaly Sequencing of all coding exons of the gene Deletion and duplication analysis 1.2
TH Dopa-responsive Dystonia THD Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
THAP1 Primary Dystonia DYT6 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.6
THRB THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH Sequencing of all coding exons of the gene 1.4
THRB THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH Sequencing of all coding exons of the gene 1.4
THRB THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH Sequencing of all coding exons of the gene 1.4
TIA1 Welander distal myopathy Sequencing of all coding exons of the gene 1.2
TIMM8A Deafness Optic Atrophy Syndrome Sequencing of all coding exons of the gene 0.3
TIMM8A Deafness-Dystonia-Syndrome Mohr-Tranebjaerg-Syndrome Sequencing of all coding exons of the gene 0.3
TK2 Mitochondrial DNA depletion syndrome 2 (myopathic type) Sequencing of all coding exons of the gene Deletion and duplication analysis 0.8
TMEM106B Frontotemporal Dementia Sequencing of all coding exons of the gene 0.8
TMEM126A Optic Atrophy Type 7 Sequencing of all coding exons of the gene 0.6
TMEM165 CDG-Syndrome 2K Sequencing of all coding exons of the gene 1
TMEM43 Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Sequencing of all coding exons of the gene 1.2
TNC Deafness, autosomal dominant 56 Sequencing of all coding exons of the gene 6.6
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like Sequencing of all coding exons of the gene 2.4
TNFRSF1A Familial autosomal dominant periodic fever (TRAPS; mutation in exons 2, 3, 4, and 6 of the TNFRSF1A gene) Sequencing of hotspots Sequencing of all coding exons of the gene 1.4
TNFRSF1A Periodic fever, familial Sequencing of hotspots Sequencing of all coding exons of the gene 1.4
TNNT2 Cardiomyopathy, dilated Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
TNNT2 Cardiomyopathy, familial hypertrophic, 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
TNNT2 Cardiomyopathy, familial restrictive, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
TOMM40 Alzheimer Disease, late-onset Sequencing of all coding exons of the gene 1.1
TOR1A Primary Dystonia DYT1 Sequencing of all coding exons of the gene Deletion and duplication analysis 1
TPM2 Nemaline Myopathy Sequencing of all coding exons of the gene 0.9
TPP1 Neuronal Ceroid-Lipofuscinoses Sequencing of all coding exons of the gene 1.7
TRAPPC10 Holoprosencephaly Sequencing of all coding exons of the gene 3.8
TRAPPC2 Spondyloepiphyseal Dysplasia  Sequencing of all coding exons of the gene 0.5
TREM2 Nasu-Hakola disease Sequencing of all coding exons of the gene 0.7
TREX1 Aicardi-Goutieres syndrome 1, dominant and recessive Sequencing of all coding exons of the gene 1.1
TREX1 Chilblain lupus Sequencing of all coding exons of the gene 1.1
TREX1 Vasculopathy, retinal, with cerebral leukodystrophy Sequencing of all coding exons of the gene 1.1
TRPM1 Congenital Stationary Night-Blindness Sequencing of all coding exons of the gene 4.9
TRPS1 Langer-Giedion Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.9
TRPS1 Trichorhinophalangeal Syndrome Type I Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.9
TRPS1 Trichorhinophalangeal Syndrome Type III Deletion and duplication analysis; Sequencing of all coding exons of the gene 3.9
TRPV4 Charcot-Marie-Tooth Neuropathy Type 2C Sequencing of all coding exons of the gene Deletion and duplication analysis 2.6
TRPV4 Hereditary motor and sensory Neuropathy Type 2C Sequencing of all coding exons of the gene Deletion and duplication analysis 2.6
TSC1 Tuberous Sclerosis 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 3.5
TSC2 Tuberous Sclerosis 2 Sequencing of all coding exons of the gene Deletion and duplication analysis 5.4
TSEN54 Pontocerebellar Hypoplasia Type 2A Sequencing of hotspots Sequencing of all coding exons of the gene 1.6
TSHB HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 Sequencing of all coding exons of the gene 0.4
TSHR Hyperthyroidism, familial gestational Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
TSHR Hyperthyroidism, nonautoimmune Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
TSHR Hypothyroidism, congenital, nongoitrous, 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.3
TSPAN12 Familial Exudative Vitreoretinopathy Sequencing of all coding exons of the gene Deletion and duplication analysis 0.9
TTC8 Bardet Biedl Syndrome Sequencing of all coding exons of the gene 1.5
TTC8 Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.5
TTR Hereditary transthyretin-related Amyloidosis Sequencing of all coding exons of the gene 0.4
TUBA1A Lissencephaly Sequencing of all coding exons of the gene 1.4
TUBA8 Polymicrogyria with Optic Nerve Hypoplasia Sequencing of all coding exons of the gene 1.4
TUBB2B Polymicrogyria, Asymmetric Sequencing of all coding exons of the gene 1.3
TUBB3 Congenital Fibrosis of the Extraocular Muscles Sequencing of all coding exons of the gene 1.4
TUBB4A Dystonia 4, torsion, autosomal dominant Sequencing of all coding exons of the gene 1.3
TUBB4A Leukodystrophy, hypomyelinating, 6 Sequencing of all coding exons of the gene 1.3
TULP1 Leber Congenital Amaurosis Sequencing of all coding exons of the gene 1.6
TULP1 Retinitis Pigmentosa Sequencing of all coding exons of the gene 1.6
TWIST1 Saethre-Chotzen Syndrome Sequencing of all coding exons of the gene 0.6
TWNK Progressive external  Ophthalmoplegia Sequencing of all coding exons of the gene Deletion and duplication analysis 2.1
TYR Albinism, oculocutaneous, type I Sequencing of all coding exons of the gene Deletion and duplication analysis 1.6
TYROBP Nasu-Hakola disease Sequencing of all coding exons of the gene 0.3
TYRP1 Albinism, oculocutaneous, type III Sequencing of all coding exons of the gene 1.6
UBE3A Angelman Syndrome Sequencing of all coding exons of the gene 2.6
UBQLN2 Frontotemporal dementia and/or amyotrophic lateral sclerosis Sequencing of all coding exons of the gene 1.9
UGT1A1 Gilbert Syndrome Sequencing of hotspots 1.6
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3 Sequencing of all coding exons of the gene Deletion and duplication analysis 3.3
UPK3A Congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT Sequencing of all coding exons of the gene 0.9
UPK3A Possible Association with Congenital Anomalies of the Kidney and Urogenital Tract Sequencing of all coding exons of the gene 0.9
UPK3A Renal adysplasia Sequencing of all coding exons of the gene 0.9
USH2A Usher Syndrome Type 2A Sequencing of all coding exons of the gene Deletion and duplication analysis 15.6
USP8 Possible association with spastic paraplegia Sequencing of all coding exons of the gene 3.4
USP8 Spastic Paraplegia 59 Sequencing of all coding exons of the gene 3.4
VAPB Cardiac Diseases Sequencing of all coding exons of the gene 0.7
VCAN Wagner Syndrome Sequencing of all coding exons of the gene 10.2
VCP Cardiac Diseases Sequencing of all coding exons of the gene 2.4
VHL Familial Erythrocytosis 2 Sequencing of all coding exons of the gene; Deletion and duplication analysis 0.6
VHL Von Hippel-Lindau Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 0.6
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Sequencing of all coding exons of the gene Deletion and duplication analysis 2.6
VPS13A Chorea-acanthocytosis Sequencing of all coding exons of the gene 9.5
VPS13B Cohen Syndrome Deletion and duplication analysis; Sequencing of all coding exons of the gene 12.1
VPS35 Parkinson disease 17 Sequencing of all coding exons of the gene 2.4
VRK1 Pontocerebellar Hypoplasia Type 1 Sequencing of all coding exons of the gene 1.2
WDR35 Cranioectodermal dysplasia 2 Sequencing of all coding exons of the gene 3.5
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly Sequencing of all coding exons of the gene 3.5
WDR45 Neurodegeneration with brain iron accumulation (NBIA) Sequencing of all coding exons of the gene Deletion and duplication analysis 1.1
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Sequencing of all coding exons of the gene Deletion and duplication analysis 4.6
WDR73 Galloway-Mowat syndrome Sequencing of all coding exons of the gene 1.1
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Sequencing of all coding exons of the gene 5.8
WFS1 Wolfram Syndrome  Sequencing of all coding exons of the gene Deletion and duplication analysis 2.7
WHSC1 Wolf-Hirschhorn Syndrome Sequencing of all coding exons of the gene 4.1
WISP3 Progressive Pseudorheumatoid Arthropathy of Childhood Sequencing of all coding exons of the gene 1.1
WNT4 Mullerian aplasia and hyperandrogenism Sequencing of all coding exons of the gene 1.1
WNT4 SERKAL syndrome Sequencing of all coding exons of the gene 1.1
XIAP Lymphoproliferative syndrome, X-linked, 2 Sequencing of all coding exons of the gene 1.5
XK McLeod Neuroacanthocytosis Syndrome Sequencing of all coding exons of the gene 1.3
XPR1 Basal ganglia calcification, idiopathic, 6 Sequencing of all coding exons of the gene 2.1
XYLT1 Desbuquois dysplasia 2 Sequencing of all coding exons of the gene 2.9
ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene 0.7
ZEB2 Mowat Wilson Syndrome Sequencing of all coding exons of the gene Deletion and duplication analysis 3.6
ZFPM2 Tetralogy of Fallot Sequencing of all coding exons of the gene 3.5
ZFYVE26 Spastic Paraplegia 15 Sequencing of all coding exons of the gene 7.6
ZIC1 Craniosynostosis 6 Sequencing of all coding exons of the gene Deletion and duplication analysis 1.3
ZIC2 Holoprosencephaly Deletion and duplication analysis; Sequencing of all coding exons of the gene 1.6
ZIC4 Dany Walker Malformation Sequencing of all coding exons of the gene 1.2