Single Gene and Segregation Analysis

For the focused analysis of single genes or familial variants

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.
We are happy to establish new analyses for you.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!

Single Gene Overview

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What We Offer with the Single Gene and Segregation Analysis

Extensive
Diagnostics

> 700 different single gene sequence analyses

Deletions & Duplications

Using MLPA or quantitative PCR in > 350 genes

High
Flexibility

We are happy to establish new examinations for you

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

Less than four weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Clearly prepared medical report

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 or quantitative PCR. For MLPAs, the kits from MRC HOLLAND are used. 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.

Sample Report

General Information

Material

1-2 ml EDTA blood (recommended sample type) or
1-2 µg genomic DNA
Analysis of other tissues is also possible
Order Form with declaration of consent
Payment agreement

Here you can find more information on how to ship your sample safely.

Turnaround Time

Turnaround Time: less than four weeks

Costs

For Single Gene Testing the costs are dependent on the size or the number of exons of the gene. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

You can find the entire diagnostic process here

Counseling & Test Selection

Sampling & Shipment

Sample Analysis

Medical Report & Counseling

Gene	Disease	Step 1	Step 2	Step 3	Kilobases
15q11-13	Prader-Willi Syndrome	Deletion and duplication analysis			26.700.000
15q11-13	Angelman Syndrome	Deletion and duplication analysis			26.700.000
AAAS	Achalasia-addisonianism-alacrimia syndrome	Sequencing of all coding exons of the gene			1.641
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3	Sequencing of all coding exons of the gene			5.115
ABCA3	Pulmonary surfactant metabolism dysfunction type 3 (ABCA3 deficiency)	Sequencing of all coding exons of the gene			5.115
ABCA4	Autosomal Recessive Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.822
ABCA4	Stargardt Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.822
ABCA4	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.822
ABCA4	Age-Dependent Macula Degeneration	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.822
ABCB4	Cholestasis, intrahepatic, of pregnancy, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.861
ABCB4	Cholestasis, progressive familial intrahepatic 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.861
ABCB4	Gallbladder disease 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.861
ABCD1	Adrenoleukodystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.238
ABHD12	Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa and Cataract	Sequencing of all coding exons of the gene			1.215
ABHD5	Chanarin-Dorfman syndrome	Sequencing of all coding exons of the gene			1.050
ACADS	Short Chain Acyl-CoA Dehydrogenase Deficiency	Sequencing of all coding exons of the gene			1.239
ACTA1	Congenital Fiber-Type Disproportion Myopathy	Sequencing of all coding exons of the gene			1.134
ACTA1	Nemaline Myopathy	Sequencing of all coding exons of the gene			1.134
ACTG2	Visceral myopathy	Sequencing of all coding exons of the gene			1.131
ACVRL1	Telangiectasia, hereditary hemorrhagic, type 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.512
ADAR	Aicardi-Goutieres syndrome 6	Sequencing of all coding exons of the gene			3.681
ADAR	Dyschromatosis symmetrica hereditaria	Sequencing of all coding exons of the gene			3.681
ADCY5	Dyskinesia, familial, with facial myokymia	Sequencing of all coding exons of the gene			3.786
ADSL	Adenylosuccinate Lyase Deficiency	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.455
AGA	Aspartylglycosaminuria	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.041
AGL	Glycogen Storage Disease Type III	Sequencing of all coding exons of the gene			4.599
AGXT	Hyperoxaluria, Primary, Type 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.179
AHI1	Joubert Syndrome	Sequencing of all coding exons of the gene			3.591
AIPL1	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.155
AIPL1	Leber congenital amaurosis 4	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.155
AIPL1	Retinitis pigmentosa, juvenile	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.155
AKT3	Hemimegalencephaly	Sequencing of all coding exons of the gene			1.440
ALDH4A1	Hyperprolinemia, Type II	Sequencing of all coding exons of the gene			1.692
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency	Sequencing of all coding exons of the gene			1.647
ALDH7A1	Pyridoxine-Dependent Epilepsy	Sequencing of all coding exons of the gene			1.620
ALDOB	Fructose intolerance	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.095
ALG12	CDG-Syndrome 1G	Sequencing of all coding exons of the gene			1.467
ALG2	CDG-Syndrome 1I	Sequencing of all coding exons of the gene			1.251
ALG3	CDG-Syndrome 1D	Sequencing of all coding exons of the gene			1.317
ALG6	CDG-Syndrom 1C	Sequencing of all coding exons of the gene			1.524
ALG8	CDG Syndrome 1H	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.581
ALG9	CDG-Syndrome 1L	Sequencing of all coding exons of the gene			1.857
ALMS1	Alstrom Syndrome	Sequencing of all coding exons of the gene			12.504
ALPL	Hypophosphatasia, adult	Sequencing of all coding exons of the gene			1.575
ALPL	Hypophosphatasia, childhood	Sequencing of all coding exons of the gene			1.575
ALPL	Hypophosphatasia, infantile	Sequencing of all coding exons of the gene			1.575
ALPL	Odontohypophosphatasia	Sequencing of all coding exons of the gene			1.575
ALS2	Cardiac Diseases	Sequencing of all coding exons of the gene			4.974
AMACR	Alpha-Methylacyl-CoA Racemase Deficiency	Sequencing of all coding exons of the gene			1.185
AMPD1	Myoadenylate Deaminase Deficiency	Sequencing of all coding exons of the gene			2.343
AMT	Glycine Encephalopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.212
ANG	Cardiac Diseases	Sequencing of all coding exons of the gene			444
ANO10	Spinocerebellar Ataxia, autosomal-recessive 10, SCAR10	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.983
ANO3	Dystonia 24	Sequencing of all coding exons of the gene			2.946
AP2S1	Hypocalciuric hypercalcemia, familial, type III	Sequencing of all coding exons of the gene			429
APOA1	Amyloidosis	Sequencing of all coding exons of the gene			804
APOA1	ApoA-I deficiency	Sequencing of all coding exons of the gene			804
APOA1	Amyloidosis, 3 or more types	Sequencing of all coding exons of the gene			804
APOA2	Apolipoprotein A-II deficiency	Sequencing of all coding exons of the gene			303
APOA5	Hyperchylomicronemia, late-onset	Sequencing of all coding exons of the gene			1.101
APP	Alzheimer Dementia	Sequencing of hotspots [Exon 16,Exon 17];Deletion and duplication analysis	Deletion and duplication analysis		2.313
APTX	Ataxia with Oculomotor Apraxia 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.029
AR	Androgen Insensitivity Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Fragment length analysis	2.763
AR	Spinal and Bulbar Muscular Atrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Fragment length analysis	2.763
ARFGEF2	Periventricular nodular Heterotopia	Sequencing of all coding exons of the gene			5.358
ARHGEF9	Hyperekplexia	Sequencing of all coding exons of the gene			1.551
ARSA	Metachromatic Leukodystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.530
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.602
ARSI	Spastic Paraplegia Type 66	Sequencing of all coding exons of the gene			1.710
ARX	Agenesis of Corpus Callosum with Abnormal Genitalia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.689
ARX	Partington X-Linked Mental Retardation Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.689
ARX	West-Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.689
ARX	X-Linked Lissencephaly with Ambiguous Genitalia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.689
ARX	X-Linked Lissencephaly with Ambiguous Genitalia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.689
ASAH1	Farber lipogranulomatosis	Sequencing of all coding exons of the gene			1.236
ASAH1	Spinal muscular atrophy with progressive myoclonic epilepsy	Sequencing of all coding exons of the gene			1.236
ASPM	Primary Autosomal Recessive Microcephaly Type 5	Sequencing of all coding exons of the gene	Deletion and duplication analysis		10.434
ASXL1	Bohring-Opitz Syndrome	Sequencing of all coding exons of the gene			4.626
ATF6	Achromatopsia 7	Sequencing of all coding exons of the gene			2.013
ATL1	Neuropathy, hereditary sensory, type ID	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.677
ATL1	Spastic paraplegia 3A, autosomal dominant	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.677
ATM	Ataxia Teleangiectatica (AT)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		9.171
ATP13A2	Kufor-Rakeb Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.543
ATP1A2	Familial hemiplegic Migraine Type 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.063
ATP1A3	Rapid Onset Dystonia with Parkinsonism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.081
ATP2A1	Brody myopathy	Sequencing of all coding exons of the gene			3.006
ATP2A2	Darier-White Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.129
ATP2C1	Hailey-Hailey disease	Sequencing of all coding exons of the gene			2.922
ATP6AP2	Mental retardation, X-linked, with epilepsy	Sequencing of all coding exons of the gene			1.053
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive	Sequencing of all coding exons of the gene			2.523
ATP6V1B1	Renal tubular acidosis with deafness	Sequencing of all coding exons of the gene			1.542
ATP7A	ATP7A-Related Copper Transport Disorders	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.503
ATP7A	Menkes Disease	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.503
ATP7B	Wilson Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.398
ATP8A2	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	Sequencing of all coding exons of the gene			3.567
ATP8B1	Cholestasis, benign recurrent intrahepatic	Sequencing of all coding exons of the gene			3.756
ATP8B1	Cholestasis, intrahepatic, of pregnancy, 1	Sequencing of all coding exons of the gene			3.756
ATP8B1	Cholestasis, progressive familial intrahepatic 1	Sequencing of all coding exons of the gene			3.756
ATRX	Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		7.479
ATXN1	Spinocerebellar Ataxia 1	Repeat expansion analysis			2.448
ATXN2	Spinocerebellar Ataxia 2	Repeat expansion analysis			3.942
ATXN3	Machado-Joseph Disease	Repeat expansion analysis			1.086
ATXN7	Spinocerebellar Ataxia 7	Repeat expansion analysis			2.838
B9D1	Meckel Syndrome	Sequencing of all coding exons of the gene			774
B9D2	Meckel Syndrome	Sequencing of all coding exons of the gene			528
BBS1	Bardet-Biedl Syndrome	Sequencing of all coding exons of the gene			1.782
BBS1	Bardet-Biedl Syndrome	Sequencing of all coding exons of the gene			1.782
BBS2	Bardet Biedl Syndrome	Sequencing of all coding exons of the gene			2.166
BBS2	Bardet Biedl Syndrome	Sequencing of all coding exons of the gene			2.166
BCKDHA	Maple Syrup Urine Disease Type 1A	Sequencing of all coding exons of the gene			1.338
BCKDHB	Maple Syrup Urine Disease	Sequencing of all coding exons of the gene			1.179
BEST1	Autosomal Dominant Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.815
BEST1	Autosomal Recessive Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.815
BFSP2	Cataract, autosomal dominant	Sequencing of all coding exons of the gene			1.248
BICD2	Spinal muscular atrophy	Sequencing of all coding exons of the gene			2.568
BSCL2	Neuropathy, distal hereditary motor, type V	Sequencing of all coding exons of the gene			1.389
BSCL2	Silver spastic paraplegia syndrome	Sequencing of all coding exons of the gene			1.389
BSCL2	Lipodystrophy, congenital generalized, type 2	Sequencing of all coding exons of the gene			1.389
BTD	Biotinidase deficiency	Sequencing of all coding exons of the gene			1.638
C10orf11	Albinism, oculocutaneous, type VII	Sequencing of all coding exons of the gene			597
C12orf65	Combined Oxidative Phosphorylation Deficiency 7	Sequencing of all coding exons of the gene			501
C1QTNF5	Late-Onset Retinal Degeneration	Sequencing of all coding exons of the gene			732
C9orf72	Cardiac Diseases	Repeat expansion analysis			1.446
CABP4	Congenital Stationary Night-Blindness	Sequencing of all coding exons of the gene			828
CACNA1A	Episodic Ataxia - Type 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Repeat expansion analysis	7.521
CACNA1A	Paroxysmal Familial Ataxia	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Repeat expansion analysis	7.521
CACNA1A	Spinocerebellar Ataxia Type 6	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Repeat expansion analysis	7.521
CACNA1A	Familial hemiplegic Migraine Type 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis	Repeat expansion analysis	7.521
CACNA1B	Dystonia 23	Sequencing of all coding exons of the gene			7.020
CACNA1F	Congenital Stationary Night-Blindness	Sequencing of all coding exons of the gene			5.934
CACNA1F	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene			5.934
CACNA1H	Childhood absence Epilepsy	Sequencing of all coding exons of the gene			7.062
CACNA1H	Epilepsy, childhood absence, susceptibility to, 6	Sequencing of all coding exons of the gene			7.062
CACNB4	Episodic Ataxia - Type 2	Sequencing of all coding exons of the gene			1.563
CACNB4	Idiopathic generalised Epilepsy (IGE)	Sequencing of all coding exons of the gene			1.563
CACNB4	Juvenile Myoclonus Epilepsy (JME)	Sequencing of all coding exons of the gene			1.563
CAPN3	Limb-Girdle Muscular Dystrophies, autosomal recessive	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.466
CASK	FG-Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.766
CASK	CASK-Related X-Linked Mental Retardation	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.766
CASR	Autosomal Dominant Hypocalcemia	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.267
CASR	Familial hypocalciuric Hypercalcemia, Type 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.267
CASR	Neonatal Severe Primary Hyperparathyroidism	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.267
CCDC65	Ciliary dyskinesia, primary, 27	Sequencing of all coding exons of the gene			1.455
CCND2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Sequencing of all coding exons of the gene			870
CD96	C syndrome	Sequencing of all coding exons of the gene			1.758
CDHR1	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene			2.580
CDHR1	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			2.580
CDK5RAP2	Primary Autosomal Recessive Microcephaly Type 3	Sequencing of all coding exons of the gene			5.682
CDKL5	Rett Syndrome, Congenital Variant	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.093
CDKL5	Epileptic Encephalopathy, Early Infantile, 2	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.093
CDKL5	West-Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.093
CDON	Holoprosencephaly	Sequencing of all coding exons of the gene			3.864
CEP63	Seckel Syndrome	Sequencing of all coding exons of the gene			2.112
CFH	Age-Dependent Macula Degeneration	Sequencing of all coding exons of the gene			3.696
CFH	Basal Laminar Drusen	Sequencing of all coding exons of the gene			3.696
CFH	Atypical Hemolytic-Uremic Syndrome	Sequencing of all coding exons of the gene			3.696
CFTR	Congenital bilateral absence of vas deferens	Sequencing of hotspots [5T/7T-Allel,50 Mutationen Elucigene Kit]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	4.443
CFTR	Cystic fibrosis	Sequencing of hotspots [5T/7T-Allel,50 Mutationen Elucigene Kit]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	4.443
CHCHD10	Myopathy, isolated mitochondrial, autosomal dominant	Sequencing of all coding exons of the gene	Deletion and duplication analysis		450
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		450
CHCHD10	Spinal muscular atrophy, Jokela type	Sequencing of all coding exons of the gene	Deletion and duplication analysis		450
CHD2	Epileptic encephalopathy, childhood-onset	Sequencing of all coding exons of the gene			5.487
CHD7	CHARGE Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.994
CHD7	CHARGE Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.994
CHD7	Hypogonadotropic hypogonadism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.994
CHD7	Hypogonadotropic hypogonadism 5 with or without anosmia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.994
CHKB	Congenital Muscular Dystrophy	Sequencing of all coding exons of the gene			1.188
CHM	Choroidal Sclerosis	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.962
CHMP2B	Frontotemporal Dementia	Sequencing of all coding exons of the gene			642
CHN1	Duane Syndrome	Sequencing of all coding exons of the gene			1.380
CHRNA1	Myasthenic Syndrome	Sequencing of all coding exons of the gene			1.449
CHRNA1	Multiple pterygium syndrome, lethal type	Sequencing of all coding exons of the gene			1.449
CHRNA2	Nocturnal frontal lobe Epilepsy	Sequencing of all coding exons of the gene			1.590
CHRNA4	Nocturnal frontal lobe Epilepsy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.884
CHRNB1	Congenital Myasthenic Syndromes	Sequencing of all coding exons of the gene			1.506
CHRNB2	Nocturnal frontal lobe Epilepsy	Sequencing of all coding exons of the gene			1.509
CHRNB3	Cardiac Diseases	Sequencing of all coding exons of the gene			1.377
CHRND	Myasthenic Syndrome	Sequencing of all coding exons of the gene			1.554
CHRND	Multiple pterygium syndrome, lethal type	Sequencing of all coding exons of the gene			1.554
CIZ1	Dystonia 23	Sequencing of all coding exons of the gene			2.697
CLCN1	Myotonia Congenita	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.967
CLCN5	Dent disease	Sequencing of all coding exons of the gene			2.451
CLCN5	Hypophosphatemic rickets	Sequencing of all coding exons of the gene			2.451
CLCN5	Nephrolithiasis, type I	Sequencing of all coding exons of the gene			2.451
CLCN5	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	Sequencing of all coding exons of the gene			2.451
CLN3	Neuronal Ceroid-Lipofuscinosis	Sequencing of all coding exons of the gene			1.317
CLN5	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene			1.224
CLN6	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene			936
CLN8	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene			861
CLRN1	Usher Syndrome Type 3	Sequencing of all coding exons of the gene			738
CNGA3	Achromatopsia	Sequencing of all coding exons of the gene			2.085
CNGB1	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			3.756
CNGB3	Achromatopsia	Sequencing of hotspots [Exon 10,c.1148delC]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	2.430
CNGB3	Stargardt Disease	Sequencing of hotspots [Exon 10,c.1148delC]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	2.430
CNTNAP2	Pitt-Hopkins-Like Syndrome 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.996
COASY	Neurodegeneration with brain iron accumulation 6	Sequencing of all coding exons of the gene			1.782
COASY	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene			1.782
COG6	Congenital disorder of glycosylation, type IIl	Sequencing of all coding exons of the gene			1.974
COG7	Congenital disorder of glycosylation, type IIe	Sequencing of all coding exons of the gene			2.313
COL10A1	Metaphyseal Chondrodysplasia, Schmid Type	Sequencing of all coding exons of the gene			2.043
COL18A1	Knobloch Syndrome Type I	Sequencing of all coding exons of the gene			4.560
COL2A1	Stickler Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.464
COL2A1	Kniest Dysplasia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.464
COL4A1	Retinal arteries, tortuosity of	Sequencing of all coding exons of the gene			5.010
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Sequencing of all coding exons of the gene			5.010
COL4A1	Brain small vessel disease with or without ocular anomalies	Sequencing of all coding exons of the gene			5.010
COL4A1	Porencephaly 1	Sequencing of all coding exons of the gene			5.010
COL4A3	Alport syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.013
COL4A3	Hematuria, benign familial	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.013
COL6A3	Bethlem myopathy 1	Sequencing of all coding exons of the gene			9.534
COL6A3	Dystonia 27	Sequencing of all coding exons of the gene			9.534
COL6A3	Ullrich congenital muscular dystrophy 1	Sequencing of all coding exons of the gene			9.534
COL9A1	Stickler Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.766
COL9A1	Multiple epiphyseal Dysplasia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.766
COL9A2	Multiple epiphyseal Dysplasia	Sequencing of all coding exons of the gene			2.070
COL9A3	Multiple epiphyseal Dysplasia	Sequencing of all coding exons of the gene			2.055
COLEC11	3MC syndrome 2	Sequencing of all coding exons of the gene			858
COMP	Pseudoachondroplasia	Sequencing of all coding exons of the gene			2.274
COMP	Multiple epiphyseal Dysplasia	Sequencing of all coding exons of the gene			2.274
COPA	Autoimmune Interstitial Lung, Joint and Kidney Disease	Sequencing of all coding exons of the gene			3.702
COQ8A	Coenzyme Q10 Deficiency	Sequencing of all coding exons of the gene			1.944
COQ9	Coenzyme Q10 Deficiency	Sequencing of all coding exons of the gene			957
CP	Aceruloplasminemia	Sequencing of all coding exons of the gene			3.198
CPA1	Hereditary pancreatitis (Carboxypeptidase A1; CPA1 gene)	Sequencing of all coding exons of the gene			1.260
CPT2	Carnitine Palmitoyltransferase II Deficiency	Sequencing of all coding exons of the gene			1.977
CRB1	Leber Congenital Amaurosis 8	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.221
CRB1	Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.221
CRX	Leber Congenital Amaurosis 7	Sequencing of all coding exons of the gene;Deletion and duplication analysis			900
CRX	Retinitis Pigmentosa	Sequencing of all coding exons of the gene;Deletion and duplication analysis			900
CSF1R	Leukoencephalopathy with spheroids	Sequencing of hotspots [Exons 12-22]	Sequencing of all coding exons of the gene		2.919
CSF2RA	Pulmonary surfactant metabolism dysfunction type 4 (mutation in the GMCSF receptor α chain; CSF2RA gene)	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.610
CSTB	Progressive Myoclonus Epilepsy with Ataxia	Repeat expansion analysis	Sequencing of all coding exons of the gene	Deletion and duplication analysis	297
CTRC	Pancreatitis, chronic, susceptibility to	Sequencing of all coding exons of the gene			807
CTSD	Neuronal Ceroid-Llipofuscinosis	Sequencing of all coding exons of the gene			1.239
CTSF	Neuronal Ceroid-Lipofuscinosis	Sequencing of all coding exons of the gene			1.455
CYP19A1	Aromatase deficiency	Sequencing of all coding exons of the gene			1.512
CYP19A1	Aromatase excess syndrome	Sequencing of all coding exons of the gene			1.512
CYP27A1	Cerebrotendinous Xanthomatosis	Sequencing of all coding exons of the gene			1.596
DARS	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	Sequencing of all coding exons of the gene			1.506
DARS2	Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung	Sequencing of all coding exons of the gene			1.938
DBT	Maple Syrup Urine Disease	Sequencing of all coding exons of the gene			1.449
DCC	Mirror movements 1	Sequencing of all coding exons of the gene			4.344
DCTN1	Perry Syndrome	Sequencing of all coding exons of the gene			3.837
DCX	DCX-Related Disorders	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.326
DCX	DCX-Related Disorders	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.326
DES	Muscular dystrophy, limb-girdle, type 2R	Sequencing of all coding exons of the gene			1.413
DES	Cardiomyopathy, dilated, 1I	Sequencing of all coding exons of the gene			1.413
DES	Myopathy, myofibrillar, 1	Sequencing of all coding exons of the gene			1.413
DES	Scapuloperoneal syndrome, neurogenic, Kaeser type	Sequencing of all coding exons of the gene			1.413
DFNB31	DFNB31 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene			2.724
DGKE	Nephrotic Syndrome Type 7	Sequencing of all coding exons of the gene			1.704
DHTKD1	2-alpha Aminoadipic 2-Oxoadipic Aciduria	Sequencing of all coding exons of the gene			2.760
DLD	Maple Syrup Urine Disease	Sequencing of all coding exons of the gene			1.530
DLD	Leigh Syndrome	Sequencing of all coding exons of the gene			1.530
DLD	Dihydrolipoamide Dehydrogenase (E3) Deficiency	Sequencing of all coding exons of the gene			1.530
DMD	Dilated Cardiomyopathy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			11.058
DMD	Becker muscular dystrophy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			11.058
DMD	Duchenne muscular dystrophy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			11.058
DMP1	Hypophosphatemic rickets, AR	Sequencing of all coding exons of the gene			1.542
DNAI1	Ciliary dyskinesia, primary, 1, with or without situs inversus	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.100
DNAJC5	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene			597
DOK7	Myasthenic Syndrome	Sequencing of all coding exons of the gene			1.515
DPAGT1	Congenital disorder of glycosylation, type Ij	Sequencing of all coding exons of the gene			1.227
DRD2	Myclonus Dystonia	Sequencing of all coding exons of the gene			1.332
DUOX2	Thryoid dyshormonogenesis 6	Sequencing of all coding exons of the gene			4.647
DUOXA2	Thyroid dyshormonogenesis 5	Sequencing of all coding exons of the gene			963
DYSF	Muscular dystrophy, limb-girdle, type 2B	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.360
DYX1C1	Ciliary dyskinesia, primary, 25	Sequencing of all coding exons of the gene			1.263
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	Sequencing of all coding exons of the gene			873
EFEMP1	Doyne Honeycomb Retinal Dystrophy	Sequencing of all coding exons of the gene			1.482
EFHC1	Juvenile Myoclonus Epilepsy (JME)	Sequencing of all coding exons of the gene			1.923
EFHC1	Myoclonic epilepsy, juvenile, susceptibility to, 1	Sequencing of all coding exons of the gene			1.923
EFNB1	Craniofrontonasal Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.041
EGF	Hypomagnesemia 4, renal	Sequencing of all coding exons of the gene			3.624
EGR2	Charcot-Marie-Tooth Neuropathy Type 4E	Sequencing of all coding exons of the gene			1.431
EGR2	Charcot-Marie-Tooth Neuropathy Type 1D	Sequencing of all coding exons of the gene			1.431
ELANE	Neutropenia, cyclic	Sequencing of hotspots [Exon 2,Exon 6]	Sequencing of all coding exons of the gene		804
ELANE	Neutropenia, severe congenital 1, autosomal dominant	Sequencing of hotspots [Exon 2,Exon 6]	Sequencing of all coding exons of the gene		804
ELOVL4	Stargardt Disease	Sequencing of all coding exons of the gene			945
EMX2	Schizencephaly	Sequencing of all coding exons of the gene			759
ENG	Telangiectasia, hereditary hemorrhagic, type 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.977
EOMES	Microcephaly Syndrome	Sequencing of all coding exons of the gene
EP300	Rubinstein-Taybi syndrome 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		7.245
EPM2A	Lafora Disease	Sequencing of all coding exons of the gene;Deletion and duplication analysis			996
ERCC1	Xeroderma Pigmentosum	Sequencing of all coding exons of the gene			972
ERCC2	Xeroderma Pigmentosum	Sequencing of all coding exons of the gene			2.283
ERCC4	Xeroderma Pigmentosum	Sequencing of all coding exons of the gene			2.751
ERCC5	Xeroderma Pigmentosum	Sequencing of all coding exons of the gene			3.561
ERCC6	Age-Dependent Macula Degeneration	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.482
ERCC6	Cockayne Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.482
ERCC8	Cockayne Syndrome	Sequencing of all coding exons of the gene			1.191
ETFA	Multiple Acyl-CoA Dehydrogenase Deficiency	Sequencing of all coding exons of the gene			1.002
ETFB	Multiple Acyl-CoA Dehydrogenase Deficiency	Sequencing of all coding exons of the gene			1.041
ETFDH	Multiple Acyl-CoA Dehydrogenase Deficiency	Sequencing of all coding exons of the gene			1.854
ETHE1	Ethylmalonic encephalopathy	Sequencing of all coding exons of the gene			765
EXOSC3	Pontocerebellar Hypoplasia, Type 1B	Sequencing of all coding exons of the gene			828
EXT1	Multiple Exostoses	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.241
EXT2	Multiple Exostoses	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.256
F12	Angioedema, hereditary, type III	Sequencing of all coding exons of the gene			1.848
F12	Factor XII deficiency	Sequencing of all coding exons of the gene			1.848
F12	Hereditary angioedema type III (mutation in exon 9 of the F12 gene)	Sequencing of all coding exons of the gene			1.848
F2	Prothrombin mutation	Sequencing of hotspots [Exon 14,20210G>A]	Sequencing of all coding exons of the gene		1.869
F5	Factor V Leiden mutation / APC resistance	Sequencing of hotspots [Exon 10,FV-Leiden-Mutation]	Sequencing of all coding exons of the gene		6.675
FA2H	Fatty Acid Hydroxylase-Associated Neurodegeneration	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.119
FA2H	Spastic Paraplegia 35	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.119
FAH	Tyrosinemia	Sequencing of all coding exons of the gene			1.260
FAM58A	STAR syndrome	Sequencing of all coding exons of the gene			745
FAS	Autoimmune lymphoproliferative syndrome, type IA	Sequencing of all coding exons of the gene			1.008
FAS	Squamous cell carcinoma, burn scar-related, somatic	Sequencing of all coding exons of the gene			1.008
FGA	Hereditary amyloidosis (FGA and TTR gene)	Sequencing of hotspots [Exon 5]			2.601
FGD1	Aarskog-Scott syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.886
FGD1	Mental retardation, X-linked syndromic 16	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.886
FGF14	Spinocerebellar ataxia 27	Sequencing of all coding exons of the gene			759
FGF23	Hypophosphatemic rickets, autosomal dominant	Sequencing of all coding exons of the gene			756
FGF23	Osteomalacia, tumor-induced	Sequencing of all coding exons of the gene			756
FGF23	Tumoral calcinosis, hyperphosphatemic, familial	Sequencing of all coding exons of the gene			756
FGF8	Hypogonadotropic hypogonadism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		735
FGF8	Holoprosencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		735
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Sequencing of all coding exons of the gene			2.469
FGFR2	Apert syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Beare-Stevenson cutis gyrata syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Bent bone dysplasia syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Craniofacial-skeletal-dermatologic dysplasia	Sequencing of all coding exons of the gene			2.469
FGFR2	Craniosynostosis, nonspecific	Sequencing of all coding exons of the gene			2.469
FGFR2	Crouzon Syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Jackson-Weiss syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	LADD syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Pfeiffer syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Saethre-Chotzen Syndrome	Sequencing of all coding exons of the gene			2.469
FGFR2	Scaphocephaly and Axenfeld-Rieger anomaly	Sequencing of all coding exons of the gene			2.469
FGFR2	Scaphocephaly, maxillary retrusion, and mental retardation	Sequencing of all coding exons of the gene			2.469
FGFR3	Achondroplasia	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Crouzon Syndrome	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Crouzon Syndrome with Acanthosis Nigricans	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Lacrimo-Auriculo-Dento-Digital Syndrome	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Muenke Syndrome	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Hypochondroplasia	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	Saddan Syndrome	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	THANATOPHORIC DYSPLASIA, TYPE II; TD2	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	THANATOPHORIC DYSPLASIA, TYPE I; TD1	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FGFR3	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS	Sequencing of hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn]	Sequencing of all coding exons of the gene		2.427
FLNA	Periventricular nodular Heterotopia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		7.944
FLT4	Hemangioma, capillary infantile, somatic	Sequencing of all coding exons of the gene			4.092
FLT4	Lymphedema, hereditary, IA	Sequencing of all coding exons of the gene			4.092
FLT4	Hereditary lymphedema type IA (mutation in exons 17-25 of the FTL4 gene)	Sequencing of all coding exons of the gene			4.092
FLVCR1	Posterior Column Ataxia with Retinitis Pigmentosa	Sequencing of all coding exons of the gene			1.668
FLVCR2	Fowler Syndrome	Sequencing of all coding exons of the gene			1.581
FOLR1	Neurodegeneration due to Cerebral Folate Transport Deficiency	Sequencing of all coding exons of the gene			774
FOXC1	Peters Anomaly	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.662
FOXC1	Axenfeld-Rieger Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.662
FOXE1	Bamforth-Lazarus Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.122
FOXG1	Rett Syndrome, Congenital Variant	Sequencing of all coding exons of the gene			1.470
FRAS1	FRAS1-Related Fraser Syndrome	Sequencing of all coding exons of the gene			12.039
FREM1	MANITOBA OCULOTRICHOANAL SYNDROME; MOTA	Sequencing of all coding exons of the gene			6.540
FREM1	TRIGONOCEPHALY 2; TRIGNO2	Sequencing of all coding exons of the gene			6.540
FREM1	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR	Sequencing of all coding exons of the gene			6.540
FSCN2	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			1.551
FSHB	Hypogonadotropic hypogonadism 24 without anosmia	Sequencing of all coding exons of the gene			390
FTL	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene			528
FTL	Hyperferritinemia-cataract syndrome (mutation in the IRE of the FTL gene)	Sequencing of all coding exons of the gene			528
FUS	Cardiac Diseases	Sequencing of all coding exons of the gene			1.581
FZD4	Familial Exudative Vitreoretinopathy	Sequencing of all coding exons of the gene			1.614
G6PC	Glycogen Storage Disease Type Ia	Sequencing of all coding exons of the gene			1.074
G6PC3	Dursun syndrome	Sequencing of all coding exons of the gene			1.041
G6PC3	Neutropenia, severe congenital 4, autosomal recessive	Sequencing of all coding exons of the gene			1.041
GAA	Glycogen storage disease II	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.859
GABRA1	Juvenile Myoclonus Epilepsy (JME)	Sequencing of all coding exons of the gene			1.371
GABRB3	Childhood absence Epilepsy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.422
GABRD	Juvenile Myoclonus Epilepsy (JME)	Sequencing of all coding exons of the gene			1.359
GABRD	Generalised Epilepsy with febrile seizures plus (GEFS+)	Sequencing of all coding exons of the gene			1.359
GABRD	Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to	Sequencing of all coding exons of the gene			1.359
GABRG2	Childhood absence Epilepsy	Sequencing of all coding exons of the gene			1.548
GALC	Krabbe Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.058
GALNT3	Tumoral calcinosis	Sequencing of all coding exons of the gene			1.902
GAMT	Guanidinoacetate Methyltransferase Deficiency	Sequencing of all coding exons of the gene	Deletion and duplication analysis		810
GARS	Neuropathy, distal hereditary motor, type V	Sequencing of all coding exons of the gene			2.220
GARS	Charcot-Marie-Tooth disease, type 2D	Sequencing of all coding exons of the gene			2.220
GATA1	GATA1-Related Anemia with Thrombocytopenia	Sequencing of all coding exons of the gene			1.242
GATA2	Emberger syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.443
GATA2	Immunodeficiency 21	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.443
GATA6	Atrial septal defect 9	Sequencing of all coding exons of the gene			1.788
GATA6	Atrioventricular septal defect 5	Sequencing of all coding exons of the gene			1.788
GATA6	Pancreatic agenesis and congenital heart defects	Sequencing of all coding exons of the gene			1.788
GATA6	Persistent truncus arteriosus	Sequencing of all coding exons of the gene			1.788
GATA6	Tetralogy of Fallot	Sequencing of all coding exons of the gene			1.788
GBA	Parkinson Syndrome	Sequencing of all coding exons of the gene			1.611
GBE1	Glycogen Storage Disease Type IV	Sequencing of all coding exons of the gene			2.109
GCDH	Glutaricacidemia Type 1	Sequencing of all coding exons of the gene			1.317
GCH1	Dopa-responsive Dystonia DYT5	Sequencing of all coding exons of the gene	Deletion and duplication analysis		753
GCK	MODY, type II	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
GCK	Hyperinsulinemic hypoglycemia, familial, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
GCK	Diabetes mellitus, gestational	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
GCK	Diabetes mellitus, noninsulin-dependent, late onset	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
GCK	Diabetes mellitus, permanent neonatal	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
GCNT2	Cataracts, autosomal recessive	Sequencing of all coding exons of the gene			1.209
GCSH	Glycine Encephalopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		522
GDAP1	Charcot-Marie-Tooth Neuropathy Type 2H	Sequencing of all coding exons of the gene			1.077
GDAP1	Charcot-Marie-Tooth Neuropathy Type 2K	Sequencing of all coding exons of the gene			1.077
GDAP1	Charcot-Marie-Tooth Neuropathy Type 4A	Sequencing of all coding exons of the gene			1.077
GFAP	Alexander Syndrome	Sequencing of all coding exons of the gene			1.317
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	Sequencing of all coding exons of the gene			618
GJA1	Hypoplastic Left Heart Syndrome	Sequencing of all coding exons of the gene			1.149
GJA1	Oculodentodigital Dysplasia	Sequencing of all coding exons of the gene			1.149
GJA1	Syndactyly, Type III	Sequencing of all coding exons of the gene			1.149
GJB1	Charcot-Marie-Tooth X-linked	Sequencing of all coding exons of the gene	Deletion and duplication analysis		852
GJB2	DFNA 3 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene	Deletion and duplication analysis		681
GJB2	DFNB 1 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene	Deletion and duplication analysis		681
GJB2	Vohwinkel Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		681
GJB3	GJB3-Related Erythrokeratodermia Variabilis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		813
GJB6	DFNA 3 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene	Deletion and duplication analysis		786
GJC2	Spastic Paraplegia 44	Sequencing of all coding exons of the gene			1.320
GJC2	Pelizaeus-Merzbacher-Like Disease 1	Sequencing of all coding exons of the gene			1.320
GLA	Fabry Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.290
GLB1	GM1-Gangliosidosis Type 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.034
GLB1	Mucopolysaccharidosis Type 4B	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.034
GLDC	Glycine Encephalopathy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.063
GLE1	Lethal Arthrogryposis with anterior horn cell disease (LAAHD)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.097
GLE1	Lethal Congenital Contracture Syndrome 1 (LCCS1)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.097
GLI2	Culler-Jones syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.761
GLI2	Holoprosencephaly-9	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.761
GLI3	Greig Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.743
GLRA1	Hyperekplexia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.374
GLRB	Hyperekplexia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.494
GLUL	Glutamine deficiency, congenital	Sequencing of all coding exons of the gene			1.122
GNA11	Hypocalcemia, autosomal dominant 2	Sequencing of all coding exons of the gene			1.080
GNA11	Hypocalciuric hypercalcemia, type II	Sequencing of all coding exons of the gene			1.080
GNAQ	Capillary malformations, congenital, 1, somatic, mosaic	Sequencing of all coding exons of the gene			1.080
GNAQ	Sturge-Weber syndrome, somatic, mosaic	Sequencing of all coding exons of the gene			1.080
GNAS	Acromegaly, somatic	Sequencing of all coding exons of the gene			3.114
GNAS	ACTH-independent macronodular adrenal hyperplasia	Sequencing of all coding exons of the gene			3.114
GNAS	McCune-Albright syndrome, somatic, mosaic	Sequencing of all coding exons of the gene			3.114
GNAS	Osseous heteroplasia, progressive	Sequencing of all coding exons of the gene			3.114
GNAS	Pseudohypoparathyroidism Ia	Sequencing of all coding exons of the gene			3.114
GNAS	Pseudohypoparathyroidism Ib	Sequencing of all coding exons of the gene			3.114
GNAS	Pseudohypoparathyroidism Ic	Sequencing of all coding exons of the gene			3.114
GNAS	Pseudopseudohypoparathyroidism	Sequencing of all coding exons of the gene			3.114
GNAT2	Achromatopsia	Sequencing of all coding exons of the gene			1.065
GNPTAB	Mucolipidosis	Sequencing of all coding exons of the gene			3.771
GNPTG	Mucolipidosis	Sequencing of all coding exons of the gene			918
GNRHR	Hypogonadotropic hypogonadism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		987
GNS	Mucopolysaccharidosis type IIID	Sequencing of all coding exons of the gene			1.659
GOSR2	Epilepsy, progressive myoclonic 6	Sequencing of all coding exons of the gene			642
GPHN	Hyperekplexia	Sequencing of all coding exons of the gene			2.310
GPHN	Molybdenum cofactor deficiency C	Sequencing of all coding exons of the gene			2.310
GPR143	Ocular Albinism x-linked	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.215
GPSM2	Chudley-McCullough syndrome	Sequencing of all coding exons of the gene			2.055
GRIN2A	Epilepsy with neurodevelopmental defects	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.395
GRN	Frontotemporal Dementia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.782
GSN	Amyloidosis, Finnish type	Sequencing of all coding exons of the gene			2.349
GSS	Glutathione synthetase deficiency	Sequencing of all coding exons of the gene			1.425
GUCA1A	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene			606
GUCY2D	Leber Congenital Amaurosis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.312
HAX1	Neutropenia, severe congenital 3, autosomal recessive	Sequencing of all coding exons of the gene			840
HCN4	Sick Sinus Syndrome	Sequencing of all coding exons of the gene			3.612
HCRT	Narcolepsy 1	Sequencing of all coding exons of the gene			396
HDAC8	Cornelia de Lange Syndrome	Sequencing of all coding exons of the gene			1.134
HEATR2	Ciliary dyskinesia, primary, 18	Sequencing of all coding exons of the gene			2.568
HESX1	Septooptic dysplasia	Sequencing of all coding exons of the gene			558
HEXA	Hexosaminidase A Deficiency	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.590
HEXA	Tay-Sachs Disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.590
HFE	Hereditary Hemochromatosis	Sequencing of hotspots [Exon 2,Exon 4,His63Asp,Cys282Tyr]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	1.047
HFE	Hemochromatosis type 1 (C282Y and H63D mutation; complete HFE gene analysis on request)	Sequencing of hotspots [Exon 2,Exon 4,His63Asp,Cys282Tyr]	Sequencing of all coding exons of the gene	Deletion and duplication analysis	1.047
HFE2	Hemochromatosis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.281
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C)	Sequencing of all coding exons of the gene			1.908
HGSNAT	Retinitis pigmentosa 73	Sequencing of all coding exons of the gene			1.908
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive	Sequencing of all coding exons of the gene	Deletion and duplication analysis		381
HNF1A	Maturity-Onset Diabetes of the Young Type 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.896
HNF4A	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.425
HNF4A	MODY, type I	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.425
HOGA1	Hyperoxaluria, Primary, Type 3	Sequencing of all coding exons of the gene			984
HOXD13	Brachydactyly-syndactyly syndrome	Sequencing of all coding exons of the gene			1.032
HOXD13	Brachydactyly, type D	Sequencing of all coding exons of the gene			1.032
HOXD13	Brachydactyly, type E	Sequencing of all coding exons of the gene			1.032
HOXD13	Syndactyly, type V	Sequencing of all coding exons of the gene			1.032
HOXD13	Synpolydactyly with foot anomalies	Sequencing of all coding exons of the gene			1.032
HOXD13	Synpolydactyly, type II	Sequencing of all coding exons of the gene			1.032
HRAS	Costello Syndrome	Sequencing of all coding exons of the gene			570
HSD11B1	Cortisone reductase deficiency 2	Sequencing of all coding exons of the gene			879
HSD17B10	17-beta-hydroxysteroid dehydrogenase X deficiency	Sequencing of all coding exons of the gene			786
HSD17B10	Mental retardation, X-linked syndromic 10	Sequencing of all coding exons of the gene			786
HSD17B4	Peroxisomal Bifunctional Enzyme Deficiency	Sequencing of all coding exons of the gene			2.286
HSD17B4	Perrault syndrome 1	Sequencing of all coding exons of the gene			2.286
HSD3B7	Bile acid synthesis defect, congenital, 1	Sequencing of all coding exons of the gene			1.110
HSF4	Cataracts, autosomal recessive	Sequencing of all coding exons of the gene			1.479
HTRA1	CARASIL syndrome	Sequencing of all coding exons of the gene			1.443
HTT	Huntington Disease, HD	Fragment length analysis			9.429
IDS	Mucopolysaccharidosis Type II	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.653
IL1RAPL1	Mental retardation, X-linked 21/34	Sequencing of all coding exons of the gene			2.091
IL36RN	Psoriasis 14, pustular	Sequencing of all coding exons of the gene			468
IRF6	Van der Woude-Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.404
ISCU	Myopathy with lactic acidosis (hereditary)	Sequencing of all coding exons of the gene			504
ISPD	Congenital Muscular Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.356
IYD	Thyroid dyshormonogenesis 4	Sequencing of all coding exons of the gene			882
JAG1	Alagille syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.657
JAG1	Tetralogy of Fallot	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.657
JAGN1	Neutropenia, servere congenital, 6, autosomal recessive	Sequencing of all coding exons of the gene			552
JAK2	JAK2-Related Budd-Chiari Syndrome	Sequencing of all coding exons of the gene			3.399
JPH3	Huntington disease-like 2 (HDL2)	Fragment length analysis			2.247
KCNA1	Episodic Ataxia - Type 1	Sequencing of all coding exons of the gene			1.488
KCNC3	Spinocerebellar Ataxia Type13	Sequencing of all coding exons of the gene			2.274
KCND3	Brugada syndrome 9	Sequencing of all coding exons of the gene			1.968
KCND3	Spinocerebellar ataxia 19	Sequencing of all coding exons of the gene			1.968
KCNE1	Jervell and Lange-Nielsen Syndrome (Long-QT-Syndrome)	Sequencing of all coding exons of the gene			390
KCNE1	Romano-Ward Syndrome (Long-QT-Syndrome)	Sequencing of all coding exons of the gene			390
KCNE3	Brugada syndrome 6	Sequencing of all coding exons of the gene			312
KCNJ10	Enlarged vestibular aqueduct, digenic	Sequencing of all coding exons of the gene			1.140
KCNJ10	SESAME syndrome	Sequencing of all coding exons of the gene			1.140
KCNJ2	Andersen syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.284
KCNJ2	Atrial fibrillation, familial, 9	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.284
KCNJ2	Short QT syndrome 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.284
KCNJ5	Hyperaldosteronism, familial, type III	Sequencing of all coding exons of the gene			1.260
KCNJ8	Cantu Syndrome	Sequencing of all coding exons of the gene			1.275
KCNK18	Migraine, with or without aura, susceptibility to, 13	Sequencing of all coding exons of the gene			1.155
KCNMA1	Generalised Epilepsy with paroxysmal Dyskinesia	Sequencing of all coding exons of the gene			3.711
KCNQ2	Benign neonatal Epilepsy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.619
KCNQ3	Benign neonatal Epilepsy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.619
KCNT1	Nocturnal frontal lobe Epilepsy	Sequencing of all coding exons of the gene			3.708
KCNT1	Epileptic Encephalopathy	Sequencing of all coding exons of the gene			3.708
KCNV2	Retinal Cone Dystrophy 3B	Sequencing of all coding exons of the gene			1.638
KCTD17	Dystonia 26, myoclonic	Sequencing of all coding exons of the gene			894
KCTD7	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	Sequencing of all coding exons of the gene			870
KIAA1549	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			5.853
KIF1A	Mental retardation, autosomal dominant 9	Sequencing of all coding exons of the gene			5.376
KIF1A	Neuropathy, hereditary sensory, type IIC	Sequencing of all coding exons of the gene			5.376
KIF1A	Spastic paraplegia 30	Sequencing of all coding exons of the gene			5.376
KIF1B	Charcot-Marie-Tooth disease, type 2A1	Sequencing of all coding exons of the gene			5.313
KIF5A	Spastic Paraplegia 10	Sequencing of all coding exons of the gene			3.099
KIT	Gastrointestinal stromal tumor, familial	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.931
KIT	Germ cell tumors	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.931
KIT	Leukemia, acute myeloid	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.931
KIT	Mast cell disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.931
KIT	Piebaldism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.931
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage	Sequencing of all coding exons of the gene			11.919
KMT2A	Wiedemann-Steiner syndrome	Sequencing of all coding exons of the gene			11.919
KRAS	Noonan syndrome	Sequencing of all coding exons of the gene			570
KRAS	Breast cancer, somatic	Sequencing of all coding exons of the gene			570
KRT12	Meesmann corneal dystrophy	Sequencing of all coding exons of the gene			1.485
KRT16	Pachyonychia congenita 1	Sequencing of all coding exons of the gene			1.422
KRT16	Palmoplantar keratoderma, nonepidermolytic, focal	Sequencing of all coding exons of the gene			1.422
KRT5	Epidermolysis Bullosa Simplex, Dowling-Meara Type	Sequencing of all coding exons of the gene			1.773
KRT5	Epidermolysis Bullosa Simplex, generalized	Sequencing of all coding exons of the gene			1.773
KRT5	Epidermolysis Bullosa Simplex, localized	Sequencing of all coding exons of the gene			1.773
KRT6C	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	Sequencing of all coding exons of the gene			1.695
L1CAM	Corpus callosum, partial agenesis of	Sequencing of all coding exons of the gene			3.774
L1CAM	CRASH syndrome	Sequencing of all coding exons of the gene			3.774
L1CAM	Hydrocephalus due to aqueductal stenosis	Sequencing of all coding exons of the gene			3.774
L1CAM	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	Sequencing of all coding exons of the gene			3.774
L1CAM	Hydrocephalus with Hirschsprung disease	Sequencing of all coding exons of the gene			3.774
L1CAM	MASA syndrome	Sequencing of all coding exons of the gene			3.774
L2HGDH	L-2-Hydroxyglutaric Aciduria	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.392
LAMA1	Poretti-Boltshauser syndrome	Sequencing of all coding exons of the gene			9.228
LAMA2	Muscular dystrophy, congenital	Sequencing of all coding exons of the gene;Deletion and duplication analysis			9.369
LARS	Infantile liver failure syndrome 1	Sequencing of all coding exons of the gene			3.531
LBR	Greenberg Dysplasia	Sequencing of all coding exons of the gene			1.848
LDLR	Autosomal dominant familial hypercholesterolemia (LDL receptor mutation)	Sequencing of all coding exons of the gene			2.583
LEP	Obesity, morbid, due to leptin deficiency	Sequencing of all coding exons of the gene			504
LGI1	Temporal lobe Epilepsy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.674
LHCGR	Leydig cell adenoma, somatic, with precocious puberty	Sequencing of all coding exons of the gene			2.100
LHCGR	Leydig cell hypoplasia with hypergonadotropic hypogonadism	Sequencing of all coding exons of the gene			2.100
LHCGR	Leydig cell hypoplasia with pseudohermaphroditism	Sequencing of all coding exons of the gene			2.100
LHCGR	Luteinizing hormone resistance, female	Sequencing of all coding exons of the gene			2.100
LHCGR	Precocious puberty, male	Sequencing of all coding exons of the gene			2.100
LHON	Leber optic atrophy	Sequencing of hotspots [m.3460G>A,m.11778G>A,m.14484T>C]			2.859
LHX3	Pituitary hormone deficiency, combined, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.209
LMNA	Cardiomyopathy, dilated, 1A	Sequencing of all coding exons of the gene			1.995
LMNA	Charcot-Marie-Tooth disease, type 2B1	Sequencing of all coding exons of the gene			1.995
LMNA	Emery-Dreifuss muscular dystrophy 2, AD	Sequencing of all coding exons of the gene			1.995
LMNA	Emery-Dreifuss muscular dystrophy 3, AR	Sequencing of all coding exons of the gene			1.995
LMNA	Heart-hand syndrome, Slovenian type	Sequencing of all coding exons of the gene			1.995
LMNA	Hutchinson-Gilford progeria	Sequencing of all coding exons of the gene			1.995
LMNA	Lipodystrophy, familial partial, 2	Sequencing of all coding exons of the gene			1.995
LMNA	Malouf syndrome	Sequencing of all coding exons of the gene			1.995
LMNA	Mandibuloacral dysplasia	Sequencing of all coding exons of the gene			1.995
LMNA	Muscular dystrophy, congenital	Sequencing of all coding exons of the gene			1.995
LMNA	Muscular dystrophy, limb-girdle, type 1B	Sequencing of all coding exons of the gene			1.995
LMNA	Restrictive dermopathy, lethal	Sequencing of all coding exons of the gene			1.995
LMNB1	Leukodystrophy, Adult-Onset, Autosomal Dominant	Deletion and duplication analysis	Sequencing of all coding exons of the gene		1.761
LMX1B	Nail-patella syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.221
LPIN1	autosomal recessive acute recurrent Myoglobinuria	Sequencing of all coding exons of the gene			2.928
LRAT	Leber Congenital Amaurosis	Sequencing of all coding exons of the gene			693
LRAT	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			693
LRP5	Familial Exudative Vitreoretinopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.848
LRP5	Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.848
LRP5	Osteoporosis Pseudoglioma Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.848
LRP5	Van Buchem Disease, Type 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.848
LRRC6	Ciliary dyskinesia, primary, 19	Sequencing of all coding exons of the gene			1.401
LRRK2	Parkinson Syndrome	Sequencing of hotspots [Exon 24,Exon 25,Exon 27,Exon 29,Exon 31,Exon 35,Exon 41,Exon 44]			7.584
LYST	Chediak-Higashi syndrome	Sequencing of all coding exons of the gene			11.406
LYZ	Amyloidosis, renal	Sequencing of all coding exons of the gene			447
MAGEL2	Schaaf-Yang syndrome				3.750
MAN2B1	Alpha-Mannosidosis	Sequencing of all coding exons of the gene			3.036
MAPK10	Epileptic encephalopathy, Lennox-Gastaut type	Sequencing of all coding exons of the gene			1.395
MAPT	Frontotemporal Dementia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.331
MARS2	Spastic ataxia 3	Sequencing of all coding exons of the gene			1.782
MASP1	3MC syndrome 1	Sequencing of all coding exons of the gene			2.187
MATN3	Multiple epiphyseal Dysplasia	Sequencing of hotspots [pThr120Met,pArg121Trp]	Sequencing of all coding exons of the gene		1.461
MBD5	Mental retardation, autosomal dominant 1	Deletion and duplication analysis	Sequencing of all coding exons of the gene		4.485
MC1R	Albinism, oculocutaneous, type II, modifier of	Sequencing of all coding exons of the gene			954
MC1R	Melanoma, cutaneous malignant, 5	Sequencing of all coding exons of the gene			954
MC1R	UV-induced skin damage	Sequencing of all coding exons of the gene			954
MCOLN1	Mucolipidosis IV	Sequencing of all coding exons of the gene			1.743
MED13L	Transposition of the great arteries, dextro-looped 1	Sequencing of all coding exons of the gene			6.633
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy	Sequencing of all coding exons of the gene			1.956
MEF2C	Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.452
MEFV	Familial Mediterranean Fever	Sequencing of hotspots [Exon 2,Exon 3,Exon 9,Exon 10]	Sequencing of all coding exons of the gene		2.346
MEN1	Hyperparathyroidism 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.848
MEN1	Multiple Endocrine Neoplasia Type 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.848
MEOX1	Klippel-Feil syndrome 2	Sequencing of all coding exons of the gene			765
MFN2	Charcot-Marie-Tooth Neuropathy Type 2A2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.274
MFSD8	Neuronal Ceroid-Lipofuscinosis	Sequencing of all coding exons of the gene			1.557
MGAT2	CDG-Syndrome 2A	Sequencing of all coding exons of the gene			1.344
MGME1	Mitochondrial DNA depletion syndrome 11	Sequencing of all coding exons of the gene			1.035
MID1	Opitz GBBB Syndrome 1 (X-linked)	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.004
MITF	Waardenburg Syndrome Type IIA	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.563
MITF	Tietz Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.563
MOCS1	Molybdenum Cofactor Deficiency	Sequencing of all coding exons of the gene			1.158
MPDZ	nonsyndromic Hydrocephalus, autosomal recessive 2	Sequencing of all coding exons of the gene			6.126
MPI	Congenital disorder of glycosylation, type Ib	Sequencing of all coding exons of the gene			1.272
MPL	Myelofibrosis with myeloid metaplasia, somatic	Sequencing of all coding exons of the gene			1.908
MPL	Thrombocythemia 2	Sequencing of all coding exons of the gene			1.908
MPL	Thrombocytopenia, congenital amegakaryocytic	Sequencing of all coding exons of the gene			1.908
MPZ	Charcot-Marie-Tooth Neuropathy Type 2I	Sequencing of all coding exons of the gene	Deletion and duplication analysis		747
MPZ	Charcot-Marie-Tooth Neuropathy Type 2J	Sequencing of all coding exons of the gene	Deletion and duplication analysis		747
MRE11	Ataxia Teleangiectatica (AT)	Sequencing of all coding exons of the gene			2.127
MSH3	Endometrial carcinoma, somatic	Sequencing of all coding exons of the gene			3.414
MSX1	Tooth Agenesis, Selective, 1	Sequencing of all coding exons of the gene			912
MSX1	Witkop Syndrome	Sequencing of all coding exons of the gene			912
MSX1	Orofacial Cleft 5	Sequencing of all coding exons of the gene			912
mtDNA	Mitochondriopathies	Whole DNA sequencing			16.569
MTM1	X-Linked Centronuclear Myopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.812
MTTP	Abetalipoproteinemia	Sequencing of all coding exons of the gene			2.685
MUTYH	Colorectal adenomatous polyposis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.650
MVK	Hyper-IgD syndrome	Sequencing of hotspots [Exon 9,Exon 11]	Sequencing of all coding exons of the gene		1.191
MVK	Mevalonic aciduria	Sequencing of hotspots [Exon 9,Exon 11]	Sequencing of all coding exons of the gene		1.191
MVK	Porokeratosis 3, disseminated superficial actinic	Sequencing of hotspots [Exon 9,Exon 11]	Sequencing of all coding exons of the gene		1.191
MYBPC3	Dilated Cardiomyopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.825
MYCN	Feingold syndrome	Sequencing of all coding exons of the gene			1.395
MYH11	Aortic aneurysm, familial thoracic 4	Sequencing of all coding exons of the gene			5.940
MYH3	Arthrogryposis, distal, type 2A	Sequencing of all coding exons of the gene			5.823
MYH3	Arthrogryposis, distal, type 2B	Sequencing of all coding exons of the gene			5.823
MYH3	Freeman-Sheldon Syndrome	Sequencing of all coding exons of the gene			5.823
MYH7	Dilated Cardiomyopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.808
MYH7	Left ventricular noncompaction 5	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.808
MYH7	MYH7-Related Myosin Storage Myopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.808
MYH9	Deafness, autosomal dominant 17	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
MYH9	Epstein syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
MYH9	Fechtner syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
MYH9	Macrothrombocytopenia and progressive sensorineural deafness	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
MYH9	May-Hegglin anomaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
MYH9	Sebastian syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.883
NAGLU	Charcot-Marie-Tooth disease, axonal, type 2V	Sequencing of all coding exons of the gene			2.232
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)	Sequencing of all coding exons of the gene			2.232
NDE1	Microhydranencephaly	Sequencing of all coding exons of the gene			1.008
NDE1	Lissencephaly 4 (with microcephaly)	Sequencing of all coding exons of the gene			1.008
NDP	Retinopathy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			402
NELFA	Wolf-Hirschhorn Syndrome	Sequencing of all coding exons of the gene			1.620
NF1	Neurofibromatosis-Noonan Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.520
NF1	Watson Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.520
NF1	Familial Spinal Neurofibromatosis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.520
NF1	Neurofibromatosis 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.520
NF2	Neurofibromatosis 2	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.788
NFIX	Sotos Syndrome	Sequencing of all coding exons of the gene			1.533
NFIX	Marshall-Smith Syndrome	Sequencing of all coding exons of the gene			1.533
NGF	Hereditary Sensory and Autonomic Neuropathy Type V	Sequencing of all coding exons of the gene			726
NHEJ1	SCID	Sequencing of all coding exons of the gene			900
NHLRC1	Lafora Disease	Sequencing of all coding exons of the gene			1.188
NIPBL	Cornelia de Lange Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.415
NKX2-1	Benign Chorea	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.206
NKX2-5	Congenital Hypothyroidism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		975
NLGN3	Asperger syndrome susceptibility, X-linked 1	Sequencing of all coding exons of the gene			2.547
NLGN3	Autism susceptibility, X-linked 1	Sequencing of all coding exons of the gene			2.547
NLGN4X	Mental retardation, X-linked	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.451
NLGN4X	Asperger syndrome susceptibility, X-linked 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.451
NLGN4X	Autism susceptibility, X-linked 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.451
NLRC4	Familial cold autoinflammatory syndrome 4	Sequencing of all coding exons of the gene			3.075
NLRC4	Autoinflammation with infantile enterocolitis	Sequencing of all coding exons of the gene			3.075
NLRP3	Familial Cold Autoinflamma- tory Syndrome (FCAS)	Sequencing of hotspots [Exon 3,Exon 4,Exon 6]	Sequencing of all coding exons of the gene		3.111
NLRP3	Muckle-Wells Syndrome	Sequencing of hotspots [Exon 3,Exon 4,Exon 6]	Sequencing of all coding exons of the gene		3.111
NLRP3	Chronic Infantile Neurological Cutaneous and Articular Syndrome	Sequencing of hotspots [Exon 3,Exon 4,Exon 6]	Sequencing of all coding exons of the gene		3.111
NME8	Ciliary dyskinesia, primary, 6	Sequencing of all coding exons of the gene			1.767
NOD2	Blau syndrome/early-onset sarcoidosis (mutation in exon 4 of the NOD2 gene)	Sequencing of all coding exons of the gene			3.123
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			3.123
NOL3	Myoclonus, familial cortical	Sequencing of all coding exons of the gene			813
NOTCH3	CADASIL	Sequencing of all coding exons of the gene			6.966
NPC1	Niemann-Pick Disease Type C	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.837
NPC2	Niemann-Pick Disease Type C	Sequencing of all coding exons of the gene	Deletion and duplication analysis		456
NPHP1	Joubert Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.202
NPHP1	Senior-Loken syndrome 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.202
NPHP3	Meckel Syndrome	Sequencing of all coding exons of the gene			3.993
NPHP4	Senior-Loken syndrome 4	Sequencing of all coding exons of the gene			4.281
NR2E3	Goldmann-Favre-Syndrome	Sequencing of all coding exons of the gene			1.233
NR2E3	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			1.233
NRXN1	Pitt-Hopkins-Like Syndrome 2	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.644
NSD1	Sotos Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			8.091
NSD1	Weaver Syndrome 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			8.091
NYX	Congenital Stationary Night-Blindness	Sequencing of all coding exons of the gene			1.446
OAT	Gyrate atrophy of choroid and retina with or without ornithinemia	Sequencing of all coding exons of the gene			1.320
OCA2	Albinism, brown oculocutaneous	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.517
OCA2	Albinism, oculocutaneous, type II	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.517
OCRL	Dent disease 2	Sequencing of all coding exons of the gene			2.706
OCRL	Lowe syndrome	Sequencing of all coding exons of the gene			2.706
OFD1	Joubert Syndrome	Sequencing of all coding exons of the gene			3.039
OFD1	Oral-Facial-Digital Syndrome Type 1	Sequencing of all coding exons of the gene			3.039
OFD1	Simpson-Golabi-Behmel Syndrome Type 2	Sequencing of all coding exons of the gene			3.039
OGDH	Alpha-ketoglutarate dehydrogenase deficiency	Sequencing of all coding exons of the gene			3.072
OPA1	Optic Atrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.048
OPA3	Optic Atrophy	Sequencing of all coding exons of the gene			543
OPHN1	X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance	Sequencing of all coding exons of the gene			2.409
OPTN	Glaucoma, Open Angle	Sequencing of all coding exons of the gene			1.734
ORAI1	Immunodeficiency 9	Sequencing of all coding exons of the gene			912
ORAI1	Myopathy, tubular aggregate, 2	Sequencing of all coding exons of the gene			912
ORC4	Meier-Gorlin Syndrome 2	Sequencing of all coding exons of the gene			1.311
ORC6	Meier-Gorlin Syndrome 3	Sequencing of all coding exons of the gene			759
OTOF	DFNB 1 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene			5.994
OTX2	Microphthalmia, syndromic 5	Sequencing of all coding exons of the gene			894
OTX2	Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction	Sequencing of all coding exons of the gene			894
P2RX7	chronic lymphocytic leukemia (CLL)	Sequencing of all coding exons of the gene			1.788
PABPN1	Oculopharyngeal Muscular Dystrophy	Sequencing of all coding exons of the gene			921
PAFAH1B1	Lissencephaly	Deletion and duplication analysis	Sequencing of all coding exons of the gene		1.233
PAFAH1B1	Lissencephaly	Deletion and duplication analysis	Sequencing of all coding exons of the gene		1.233
PAH	Phenylketonuria	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.359
PALB2	Hereditary Breast Cancer	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.561
PANK2	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.713
PARK2	Juvenile Parkinson Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.398
PARK7	Juvenile Parkinson Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			570
PAX6	Aniridia	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.311
PAX6	Cataract with late-onset corneal dystrophy	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.311
PAX6	Coloboma of optic nerve	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.311
PAX6	Coloboma, ocular	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.311
PAX8	Congenital Hypothyroidism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.353
PCDH19	Epileptic Encephalopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.447
PDE4D	Acrodysostosis 2, with or without hormone resistance	Sequencing of all coding exons of the gene			2.430
PDE6C	Achromatopsia	Sequencing of all coding exons of the gene			2.577
PDE6H	Retinal Cone Dystrophy 3A	Sequencing of all coding exons of the gene			252
PDHA1	Pyruvate Dehydrogenase (PDH)-Deficiency	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.287
PEX1	Peroxisome Biogenesis Disorders (PBD)	Sequencing of all coding exons of the gene			3.852
PEX1	Zellweger Syndrome	Sequencing of all coding exons of the gene			3.852
PEX10	Zellweger Syndrome	Sequencing of all coding exons of the gene			1.041
PEX12	Zellweger Syndrome	Sequencing of all coding exons of the gene			1.080
PEX2	Zellweger Syndrome	Sequencing of all coding exons of the gene			918
PEX26	Zellweger Syndrome	Sequencing of all coding exons of the gene			918
PEX5	Zellweger Syndrome	Sequencing of all coding exons of the gene			1.965
PEX6	Zellweger Syndrome	Sequencing of all coding exons of the gene			2.943
PEX7	Peroxisome Biogenesis Disorders (PBD)	Sequencing of all coding exons of the gene			972
PFN1	Cardiac Diseases	Sequencing of all coding exons of the gene			423
PGAM2	Glycogen Storage Disease X	Sequencing of all coding exons of the gene			762
PGK1	Phosphoglycerate kinase 1 deficiency	Sequencing of all coding exons of the gene			1.254
PHEX	Hypophosphatemic rickets, X-linked dominant	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.250
PHF6	Borjeson-Forssman-Lehmann Syndrome	Sequencing of all coding exons of the gene			1.098
PHF6	Borjeson-Forssman-Lehmann Syndrome	Sequencing of all coding exons of the gene			1.098
PHYH	Refsum disease	Sequencing of all coding exons of the gene			1.017
PIGA	Paroxysomal Nocturnal Hemoglobinuria	Sequencing of all coding exons of the gene			1.455
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Sequencing of all coding exons of the gene			2.187
PINK1	Juvenile Parkinson Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.746
PITX2	Peters Anomaly	Sequencing of all coding exons of the gene;Deletion and duplication analysis			975
PITX2	Axenfeld-Rieger Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			975
PKHD1	Polycystic kidney and hepatic disease	Sequencing of all coding exons of the gene	Deletion and duplication analysis		12.225
PKLR	Pyruvate kinase deficiency	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.725
PLA2G6	Parkinsonism and Dystonia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.421
PLA2G6	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.421
PLCB1	Epileptic Encephalopathy, Early Infantile, 12	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.651
PLCG2	Familial cold autoinflammatory syndrome 3	Deletion and duplication analysis	Sequencing of all coding exons of the gene		3.798
PLCG2	Autoinflammation, antibody deficiency, and immune dysregulation syndrome	Deletion and duplication analysis	Sequencing of all coding exons of the gene		3.798
PLEC	Epidermolysis bullosa simplex with nail dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		14.055
PLEC	Epidermolysis bullosa simplex with muscular dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		14.055
PLEC	Epidermolysis bullosa simplex with pyloric atresia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		14.055
PLEC	Epidermolysis bullosa simplex, Ogna type	Sequencing of all coding exons of the gene	Deletion and duplication analysis		14.055
PLEC	Muscular dystrophy, limb-girdle, type 2Q	Sequencing of all coding exons of the gene	Deletion and duplication analysis		14.055
PLP1	Spastic paraplegia 2, X-linked	Deletion and duplication analysis	Sequencing of all coding exons of the gene		834
PLP1	Pelizaeus-Merzbacher disease	Deletion and duplication analysis	Sequencing of all coding exons of the gene		834
PMM2	CDG-Syndrome 1A	Sequencing of all coding exons of the gene			741
PMP22	Charcot-Marie-Tooth Neuropathy Type 1A	Deletion and duplication analysis	Sequencing of all coding exons of the gene		483
PMP22	Hereditary Neuropathy with liability to pressure palsies	Deletion and duplication analysis	Sequencing of all coding exons of the gene		483
PNKD	Paroxysmal nonkinesiogenic Dyskinesia 1 PNKD1	Sequencing of all coding exons of the gene			1.158
PNKP	Epileptic encephalopathy, early infantile, 10	Sequencing of all coding exons of the gene			1.566
PNPLA3	Susceptibility to nonalcoholic fatty liver disease (PNPLA3 gene)	Sequencing of all coding exons of the gene			1.446
PNPO	Pyridoxamine 5-prime-phosphate oxidase deficiency	Sequencing of all coding exons of the gene			786
POLE	FILS syndrome	Sequencing of all coding exons of the gene			6.861
POLG	POLG-Related Ataxia Neuropathy Spectrum Disorders	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.720
POLG	Alpers Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.720
POLG	Progressive external Ophthalmoplegia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.720
POLG	Mitochondrial recessive Ataxia Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.720
POLG2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Sequencing of all coding exons of the gene			1.458
POLR1C	Leukodystrophy, hypomyelinating, 11	Sequencing of all coding exons of the gene			1.041
POLR1C	Treacher Collins syndrome 3	Sequencing of all coding exons of the gene			1.041
POLR1D	Treacher Collins syndrome 2	Sequencing of all coding exons of the gene			402
POLR3A	Leukodystrophy, hypomyelinating, 7	Sequencing of all coding exons of the gene			4.173
POU1F1	Pituitary hormone deficiency, combined, 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			954
PPM1K	Maple syrup urine disease, mild variant	Sequencing of all coding exons of the gene			1.119
PPT1	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene	Deletion and duplication analysis		921
PQBP1	Renpenning Syndrome 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			798
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2	Sequencing of all coding exons of the gene			1.668
PRF1	Lymphoma, non-Hodgkin	Sequencing of all coding exons of the gene			1.668
PRICKLE1	Progressive Myoclonus Epilepsy with Ataxia	Sequencing of all coding exons of the gene			2.496
PRKAR1A	Carney Complex	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.146
PRKCG	Spinocerebellar ataxia 14	Sequencing of all coding exons of the gene			2.094
PRKRA	Early Onset Dystonia with Parkinsonism	Sequencing of all coding exons of the gene	Deletion and duplication analysis		942
PRKRA	Dystonia 16	Sequencing of all coding exons of the gene	Deletion and duplication analysis		942
PRNP	Genetic Prion Disease	Sequencing of all coding exons of the gene			762
PROK1	Hirschsprung Disease	Sequencing of all coding exons of the gene			318
PROM1	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.598
PROP1	Pituitary hormone deficiency, combined, 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		681
PRPF31	Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.500
PRPH2	Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.041
PRPH2	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.041
PRPH2	Patterned Dystrophy of Retinal Pigment Epithelium	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.041
PRPH2	Adult-Onset Vitelliform Macular Dystrophy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.041
PRPS1	Charcot-Marie-Tooth Neuropathy X Type 5	Sequencing of all coding exons of the gene			957
PRPS1	DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene			957
PRRT2	Familial Paroxysmal Kinesigenic Dyskinesia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.185
PRSS1	Pancreatitis, hereditary	Sequencing of all coding exons of the gene			744
PRSS1	Trypsinogen deficiency	Sequencing of all coding exons of the gene			744
PSAP	Encephalopathy due to prosaposin deficiency	Sequencing of all coding exons of the gene			1.575
PSAP	Gaucher disease	Sequencing of all coding exons of the gene			1.575
PSAP	Metachromatic Leukodystrophy	Sequencing of all coding exons of the gene			1.575
PSEN1	Alzheimer Dementia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.404
PSEN2	Alzheimer Dementia	Sequencing of all coding exons of the gene			1.347
PSMB8	Autoinflammation, lipodystrophy, and dermatosis syndrome (Nakajo-Nishimura or CANDLE syndrome; PSMB8 gene)	Sequencing of all coding exons of the gene			831
PSTPIP1	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	Sequencing of all coding exons of the gene			1.251
PTCH1	Holoprosencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.344
PTCH2	Basal cell carcinoma, somatic	Sequencing of all coding exons of the gene			3.612
PTCH2	Basal cell nevus syndrome	Sequencing of all coding exons of the gene			3.612
PTCH2	Medulloblastoma, desmoplastic	Sequencing of all coding exons of the gene			3.612
PTDSS1	Lenz-Majewski hyperostotic dwarfism	Sequencing of all coding exons of the gene			1.422
PTEN	Bannayan-Riley-Ruvalcaba syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.212
PTEN	Cowden syndrome 1	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.212
PTEN	Macrocephaly/Autism Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.212
PTEN	Lhermitte-Duclos syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.212
PTPN11	LEOPARD syndrome 1	Sequencing of all coding exons of the gene			1.782
PTPN11	Leukemia, juvenile myelomonocytic, somatic	Sequencing of all coding exons of the gene			1.782
PTPN11	Metachondromatosis	Sequencing of all coding exons of the gene			1.782
PTPN11	Noonan syndrome 1	Sequencing of all coding exons of the gene			1.782
PTRF	Kongenitale generalisierte Lipodystrophie mit Muskeldystrophie	Sequencing of all coding exons of the gene			1.173
PTS	6-Pyruvoyltetrahydropterin Synthase Deficiency	Sequencing of all coding exons of the gene			438
PYGM	Glycogen Storage Disease Type V	Sequencing of all coding exons of the gene			2.529
QDPR	Dihydropteridine reductase deficiency	Sequencing of all coding exons of the gene			735
RAB3GAP1	Warburg Micro Syndrome 1	Sequencing of all coding exons of the gene			2.967
RAD21	Cornelia de Lange Syndrome	Sequencing of all coding exons of the gene			1.896
RAD51	Mirror movements 2	Sequencing of all coding exons of the gene			1.023
RAD51D	RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.047
RAI1	Smith-Magenis-Syndrome (SMS)	Sequencing of all coding exons of the gene			5.721
RAPSN	Myasthenic Syndrome	Sequencing of all coding exons of the gene			1.239
RARS2	Pontocerebellar Hypoplasia Type 6	Sequencing of all coding exons of the gene			1.737
RBBP8	Seckel Syndrome	Sequencing of all coding exons of the gene			2.694
RBBP8	Jawad Syndrome	Sequencing of all coding exons of the gene			2.694
RBM10	TARP syndrome	Sequencing of all coding exons of the gene			2.793
RBP3	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			3.744
REEP1	Spastic Paraplegia 31	Sequencing of all coding exons of the gene	Deletion and duplication analysis		627
REPS1	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene
RHO	Night blindness, congenital stationary, autosomal dominant 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.047
RHO	Retinitis pigmentosa 4, autosomal dominant or recessive	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.047
RHO	Retinitis punctata albescens	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.047
RLBP1	Fundus albipunctatus	Sequencing of all coding exons of the gene			954
RLBP1	Cone-Rod-Dystrophy	Sequencing of all coding exons of the gene			954
RLBP1	Bothnia Retinal Dysfunction	Sequencing of all coding exons of the gene			954
RLBP1	Retinis Punctata	Sequencing of all coding exons of the gene			954
RNASEH2B	Aicardi-Goutieres syndrome 2	Sequencing of all coding exons of the gene			939
RNASET2	Leukoencephalopathy, cystic, without megalencephaly	Sequencing of all coding exons of the gene			771
ROBO3	Horizontal Gaze Palsy and Scoliosis	Sequencing of all coding exons of the gene			4.161
ROGDI	Kohlschutter-Tonz Syndrome	Sequencing of all coding exons of the gene			864
RP1	Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		6.471
RP1L1	Occult Macular Dystrophy (OCMD)	Sequencing of all coding exons of the gene			7.203
RP2	Retinitis Pigmentosa	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.053
RPE65	Autosomal Dominant Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.602
RPE65	Autosomal Recessive Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.602
RPE65	Leber Congenital Amaurosis 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.602
RPGR	Retinitis Pigmentosa	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.459
RRM2B	Mitochondrial DNA Depletion Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.056
RS1	X-Linked Juvenile Retinoschisis	Sequencing of all coding exons of the gene			675
RSPH1	Ciliary dyskinesia, primary, 24	Sequencing of all coding exons of the gene			930
RUNX2	Cleidocranial dysplasia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.566
RUNX2	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.566
SAA1	Susceptibility to amyloidosis (SAA1 amino acids 70 and 75 encoded by exon 3)	Sequencing of hotspots [Exon 3]			369
SACS	Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay	Sequencing of all coding exons of the gene	Deletion and duplication analysis		13.740
SALL1	Townes-Brocks syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.975
SALL1	Townes-Brocks branchiootorenal-like syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.975
SALL4	Duane-radial ray syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.162
SALL4	IVIC syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.162
SAMHD1	Aicardi-Goutieres syndrome 5	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.881
SAMHD1	Chilblain lupus 2	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.881
SCN1A	Generalised Epilepsy with febrile seizures plus (GEFS+)	Sequencing of all coding exons of the gene;Deletion and duplication analysis			6.030
SCN1A	Familial hemiplegic Migraine Type 3	Sequencing of all coding exons of the gene;Deletion and duplication analysis			6.030
SCN1B	Generalised Epilepsy with febrile seizures plus (GEFS+)	Sequencing of all coding exons of the gene			807
SCN2A	Generalised Epilepsy with febrile seizures plus (GEFS+)	Sequencing of all coding exons of the gene			6.018
SCN3A	cryptogenic pediatric partial epilepsy	Sequencing of all coding exons of the gene			6.003
SCN3A	focal epilepsy	Sequencing of all coding exons of the gene			6.003
SCN3A	Grand mal epilepsy	Sequencing of all coding exons of the gene			6.003
SCN4A	Myasthenic Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.511
SCN4A	Paramyotonia Congenita	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.511
SCN8A	Epileptic Encephalopathy, Early Infantile, 13	Sequencing of all coding exons of the gene			5.943
SCN9A	Inherited Erythromelalgia	Sequencing of all coding exons of the gene			5.934
SCN9A	Generalised Epilepsy with febrile seizures plus (GEFS+)	Sequencing of all coding exons of the gene			5.934
SCN9A	Congenital Indifference to Pain, Autosomal Recessive	Sequencing of all coding exons of the gene			5.934
SCN9A	Paroxysmal Extreme Pain Disorder	Sequencing of all coding exons of the gene			5.934
SCNN1B	Pseudohypoaldosteronism Type 1	Sequencing of all coding exons of the gene			1.923
SCNN1G	Pseudohypoaldosteronism Type 1	Sequencing of all coding exons of the gene			1.950
SCP2	Leukoencephalopathy with dystonia and motor neuropathy	Sequencing of all coding exons of the gene			1.644
SDHAF2	Paragangliomas 2	Sequencing of all coding exons of the gene			501
SDHB	Paraganglioma and Gastric Stromal Sarcoma	Sequencing of all coding exons of the gene;Deletion and duplication analysis			843
SDHB	Cowden-Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			843
SDHB	Hereditary Paraganglioma-Pheochromocytoma Syndromes	Sequencing of all coding exons of the gene;Deletion and duplication analysis			843
SDHD	Paraganglioma and Gastric Stromal Sarcoma	Sequencing of all coding exons of the gene;Deletion and duplication analysis			480
SDHD	Cowden-Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			480
SDHD	Hereditary Paraganglioma-Pheochromocytoma Syndromes	Sequencing of all coding exons of the gene;Deletion and duplication analysis			480
SEMA3E	CHARGE Syndrome	Sequencing of all coding exons of the gene			2.328
SEMA3E	CHARGE Syndrome	Sequencing of all coding exons of the gene			2.328
SEPT9	Amyotrophy, hereditary neuralgic	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.761
SEPT9	Leukemia, acute myeloid, therapy-related	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.761
SEPT9	Ovarian carcinoma	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.761
SERPINC1	Thrombophilia due to Antithrombin III Deficiency	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.395
SERPING1	Angioedema, hereditary, types I and II	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.503
SERPING1	Complement component 4, partial deficiency of	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.503
SETBP1	Schinzel-Giedion Midface Retraction Syndrome	Sequencing of all coding exons of the gene			4.791
SETX	Cardiac Diseases	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.034
SETX	Spinocerebellar Ataxia with Axonal Neuropathy Type 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		8.034
SFTPB	Surfactant metabolism dysfunction, pulmonary, 1	Sequencing of all coding exons of the gene			1.182
SFTPB	Pulmonary surfactant metabolism dysfunction type 1 (Surfactant protein B deficiency; SFTPB gene)	Sequencing of all coding exons of the gene			1.182
SFTPC	Surfactant metabolism dysfunction, pulmonary, 2	Sequencing of all coding exons of the gene			594
SGCE	Myclonus Dystonia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.389
SGSH	Mucopolysaccharidosis Type IIIA	Sequencing of all coding exons of the gene			1.509
SHH	Holoprosencephaly-3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.389
SHH	Microphthalmia with coloboma 5	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.389
SHH	Schizencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.389
SHH	Single median maxillary central incisor	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.389
SIL1	Marinesco-Sjögren-Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.386
SIX3	Holoprosencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		999
SIX3	Schizencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		999
SLC12A3	Gitelman Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.093
SLC12A5	Epileptic encephalopathy, early infantile, 34	Sequencing of all coding exons of the gene			3.420
SLC16A12	Cataract, juvenile, with microcornea and glucosuria	Sequencing of all coding exons of the gene			1.551
SLC17A5	Salla Disease	Sequencing of all coding exons of the gene			1.488
SLC19A3	Biotin-Responsive Basal Ganglia Disease	Sequencing of all coding exons of the gene			1.491
SLC1A3	Episodic Ataxia Type 6	Sequencing of all coding exons of the gene			1.629
SLC22A5	Carnitine deficiency, systemic primary	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.674
SLC25A15	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Sequencing of all coding exons of the gene			906
SLC25A19	Progressive demyelinating neuropathy	Sequencing of all coding exons of the gene			963
SLC25A22	Epileptic Encephalopathy, Early Infantile, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		972
SLC25A3	Mitochondrial Phosphate Carrier Deficiency	Sequencing of all coding exons of the gene			1.089
SLC26A2	Multiple epiphyseal Dysplasia	Sequencing of all coding exons of the gene			2.220
SLC26A4	Pendred Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.343
SLC26A5	DFNB61 Nonsyndromic Hearing Loss and Deafness	Sequencing of all coding exons of the gene			2.235
SLC2A1	GLUT1 Deficiency Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.479
SLC2A10	Arterial tortuosity syndrome	Sequencing of all coding exons of the gene			1.626
SLC30A10	Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Sequencing of all coding exons of the gene			1.458
SLC35A1	Congenital disorder of glycosylation, type IIf	Sequencing of all coding exons of the gene			1.014
SLC35D1	Schneckenbecken dysplasia	Sequencing of all coding exons of the gene			1.068
SLC36A2	Iminoglycinuria	Sequencing of all coding exons of the gene			1.452
SLC3A1	Cystinuria	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.058
SLC40A1	Hereditary Hemochromatosis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.716
SLC45A2	Oculocutaneous Albinism Type 4	Sequencing of all coding exons of the gene			1.593
SLC46A1	Hereditary Folate Malabsorption	Sequencing of all coding exons of the gene			1.380
SLC4A1	Ovalocytosis	Sequencing of all coding exons of the gene			2.736
SLC4A1	Renal tubular acidosis, distal, AD	Sequencing of all coding exons of the gene			2.736
SLC4A1	Renal tubular acidosis, distal, AR	Sequencing of all coding exons of the gene			2.736
SLC4A1	Spherocytosis, type 4	Sequencing of all coding exons of the gene			2.736
SLC5A5	Thyroid dyshormonogenesis 1	Sequencing of all coding exons of the gene			1.932
SLC5A6	association with brain, immune, bone, and intestinal dysfunction in a young child	Sequencing of all coding exons of the gene
SLC6A20	Hyperglycinuria	Sequencing of all coding exons of the gene			1.779
SLC6A20	Iminoglycinuria	Sequencing of all coding exons of the gene			1.779
SLC6A3	Parkinsonism-dystonia, infantile	Sequencing of all coding exons of the gene			1.863
SLC6A5	Hyperekplexia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.394
SLC6A8	Cerebral creatine deficiency syndrome 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.908
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.659
SMAD4	Myhre syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.659
SMAD4	Polyposis, juvenile intestinal	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.659
SMC1A	Cornelia de Lange Syndrome	Sequencing of all coding exons of the gene			3.702
SMC3	Cornelia de Lange Syndrome	Sequencing of all coding exons of the gene			3.654
SMPD1	Niemann-Pick Disease Type A / Type B	Sequencing of all coding exons of the gene	Sequencing of all coding exons of the gene;Deletion and duplication analysis		1.896
SMS	X-linked mental Retardation, Snyder-Robinson Type	Sequencing of all coding exons of the gene			1.101
SNAP29	CEDNIK syndrome	Sequencing of all coding exons of the gene			777
SNCA	Parkinson Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		423
SOX10	Waardenburg Syndrome Type 4C	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
SOX10	Waardenburg Syndrome Type 2E	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.401
SOX3	Mental retardation, X-linked, with isolated growth hormone deficiency	Sequencing of all coding exons of the gene			1.341
SOX3	Panhypopituitarism, X-linked	Sequencing of all coding exons of the gene			1.341
SPAST	Spastic Paraplegia 4	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.851
SPATA5	Epilepsy, hearing loss and mental retardation syndrome	Sequencing of all coding exons of the gene			2.682
SPG11	Spastic paraplegia 11	Sequencing of all coding exons of the gene	Deletion and duplication analysis		7.332
SPG7	Spastic Paraplegia 7	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.388
SPINK1	Pancreatitis, hereditary	Sequencing of all coding exons of the gene	Deletion and duplication analysis		240
SPINK1	Tropical calcific pancreatitis	Sequencing of all coding exons of the gene	Deletion and duplication analysis		240
SPR	Dopa-Responsive Dyst. due to Sepiapterin Red. Deficiency	Sequencing of all coding exons of the gene			786
SPRED1	Legius syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.335
SPTAN1	Epileptic Encephalopathy, Early Infantile, 5	Sequencing of all coding exons of the gene			7.434
SPTLC1	Neuropathy, hereditary sensory and autonomic, type IA	Sequencing of all coding exons of the gene			1.422
SRCAP	Floating-Harbor syndrome	Sequencing of all coding exons of the gene			9.693
SRPX2	Rolandic Epilepsy	Sequencing of all coding exons of the gene			1.398
ST3GAL3	Epileptic encephalopathy, early infantile, 15	Sequencing of all coding exons of the gene			1.335
ST3GAL3	Mental retardation, autosomal recessive 12	Sequencing of all coding exons of the gene			1.335
STK11	Peutz-Jeghers syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.302
STUB1	Spinocerebellar ataxia, autosomal recessive 16	Sequencing of all coding exons of the gene			912
STX16	Pseudohypoparathyroidism Ib	Sequencing of all coding exons of the gene	Deletion and duplication analysis		978
STXBP1	Epileptic Encephalopathy, Early Infantile, 4	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.812
SUFU	Basal cell nevus syndrome	Sequencing of all coding exons of the gene			1.455
SUFU	Medulloblastoma, desmoplastic	Sequencing of all coding exons of the gene			1.455
SUOX	Sulfite oxidase deficiency	Sequencing of all coding exons of the gene			1.638
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	Sequencing of all coding exons of the gene			2.118
SYNGAP1	Mental retardation, autosomal dominant 5	Sequencing of all coding exons of the gene			4.032
TARDBP	Cardiac Diseases	Sequencing of all coding exons of the gene			1.245
TBK1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Sequencing of all coding exons of the gene			2.190
TBP	Spinocerebellar Ataxia 17	Repeat expansion analysis			1.020
TCF4	Pitt-Hopkins Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			2.322
TCOF1	Treacher Collins Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			4.467
TECTA	Deafness, autosomal dominant 8/12	Sequencing of all coding exons of the gene			6.468
TECTA	Deafness, autosomal recessive 21	Sequencing of all coding exons of the gene			6.468
TEK	Venous malformations, multiple cutaneous and mucosal	Sequencing of all coding exons of the gene			3.375
TG	Thyroid dyshormonogenesis 3	Sequencing of all coding exons of the gene			8.307
TGIF1	Holoprosencephaly	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.206
TH	Dopa-responsive Dystonia THD	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.587
THAP1	Primary Dystonia DYT6	Sequencing of all coding exons of the gene	Deletion and duplication analysis		642
TIA1	Welander distal myopathy	Sequencing of all coding exons of the gene			1.161
TIMM8A	Deafness-Dystonia-Syndrome Mohr-Tranebjaerg-Syndrome	Sequencing of all coding exons of the gene			294
TIMM8A	Deafness Optic Atrophy Syndrome	Sequencing of all coding exons of the gene			294
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		798
TMEM106B	Frontotemporal Dementia	Sequencing of all coding exons of the gene			825
TMEM126A	Optic Atrophy Type 7	Sequencing of all coding exons of the gene			588
TMEM165	CDG-Syndrome 2K	Sequencing of all coding exons of the gene			975
TMEM43	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy	Sequencing of all coding exons of the gene			1.203
TNFRSF1A	Periodic fever, familial	Sequencing of hotspots [Exon 2,Exon 3,Exon 4,Exon 6,Exon 7,Exon 10]	Sequencing of all coding exons of the gene		1.368
TNFRSF1A	Familial autosomal dominant periodic fever (TRAPS; mutation in exons 2, 3, 4, and 6 of the TNFRSF1A gene)	Sequencing of hotspots [Exon 2,Exon 3,Exon 4,Exon 6,Exon 7,Exon 10]	Sequencing of all coding exons of the gene		1.368
TNNT2	Dilated Cardiomyopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		888
TNNT2	Cardiomyopathy, familial hypertrophic, 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		888
TNNT2	Cardiomyopathy, familial restrictive, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		888
TOMM40	Alzheimer Disease, late-onset	Sequencing of all coding exons of the gene			1.086
TOR1A	Primary Dystonia DYT1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		999
TPM2	Nemaline Myopathy	Sequencing of all coding exons of the gene			855
TPP1	Neuronal Ceroid-Lipofuscinoses	Sequencing of all coding exons of the gene			1.692
TRAPPC10	Holoprosencephaly	Sequencing of all coding exons of the gene			3.780
TRAPPC2	Spondyloepiphyseal Dysplasia	Sequencing of all coding exons of the gene			525
TREM2	Nasu-Hakola disease	Sequencing of all coding exons of the gene			693
TREX1	Aicardi-Goutieres syndrome 1, dominant and recessive	Sequencing of all coding exons of the gene			1.110
TREX1	Chilblain lupus	Sequencing of all coding exons of the gene			1.110
TREX1	Vasculopathy, retinal, with cerebral leukodystrophy	Sequencing of all coding exons of the gene			1.110
TRPM1	Congenital Stationary Night-Blindness	Sequencing of all coding exons of the gene			4.929
TRPS1	Langer-Giedion Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.885
TRPS1	Trichorhinophalangeal Syndrome Type I	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.885
TRPS1	Trichorhinophalangeal Syndrome Type III	Sequencing of all coding exons of the gene;Deletion and duplication analysis			3.885
TRPV4	Charcot-Marie-Tooth Neuropathy Type 2C	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.616
TRPV4	Hereditary motor and sensory Neuropathy Type 2C	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.616
TSC1	Tuberous Sclerosis 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.495
TSC2	Tuberous Sclerosis 2	Sequencing of all coding exons of the gene	Deletion and duplication analysis		5.424
TSEN54	Pontocerebellar Hypoplasia Type 2A	Sequencing of hotspots [Exon 8,c.919G>T (p.Ala307Ser)]	Sequencing of all coding exons of the gene		1.581
TSHR	Hyperthyroidism, familial gestational	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.295
TSHR	Hyperthyroidism, nonautoimmune	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.295
TSHR	Hypothyroidism, congenital, nongoitrous, 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.295
TSPAN12	Familial Exudative Vitreoretinopathy	Sequencing of all coding exons of the gene	Deletion and duplication analysis		918
TTC8	Retinitis Pigmentosa	Sequencing of all coding exons of the gene			1.548
TTC8	Bardet Biedl Syndrome	Sequencing of all coding exons of the gene			1.548
TTC8	Bardet Biedl Syndrome	Sequencing of all coding exons of the gene			1.548
TTR	Hereditary transthyretin-related Amyloidosis	Sequencing of all coding exons of the gene			444
TUBA1A	Lissencephaly	Sequencing of all coding exons of the gene			1.356
TUBA1A	Lissencephaly	Sequencing of all coding exons of the gene			1.356
TUBA8	Polymicrogyria with Optic Nerve Hypoplasia	Sequencing of all coding exons of the gene			1.350
TUBB2B	Polymicrogyria, Asymmetric	Sequencing of all coding exons of the gene			1.338
TUBB3	Congenital Fibrosis of the Extraocular Muscles	Sequencing of all coding exons of the gene			1.353
TUBB4A	Dystonia 4, torsion, autosomal dominant	Sequencing of all coding exons of the gene			1.335
TUBB4A	Leukodystrophy, hypomyelinating, 6	Sequencing of all coding exons of the gene			1.335
TWIST1	Saethre-Chotzen Syndrome	Sequencing of all coding exons of the gene			609
TWNK	Progressive external Ophthalmoplegia	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.055
TYR	Oculocutaneous Albinism Type 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.590
TYROBP	Nasu-Hakola disease	Sequencing of all coding exons of the gene			342
TYRP1	Albinism, oculocutaneous, type III	Sequencing of all coding exons of the gene			1.614
UBE3A	Angelman Syndrome	Sequencing of all coding exons of the gene			2.628
UBQLN2	Frontotemporal dementia and/or amyotrophic lateral sclerosis	Sequencing of all coding exons of the gene			1.875
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.273
UPK3A	Renal adysplasia	Sequencing of all coding exons of the gene			864
UPK3A	congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT	Sequencing of all coding exons of the gene			864
UPK3A	Possible Association with Congenital Anomalies of the Kidney and Urogenital Tract	Sequencing of all coding exons of the gene			864
USH2A	Usher Syndrome Type 2A	Sequencing of all coding exons of the gene	Deletion and duplication analysis		15.609
USP8	Spastic Paraplegia 59	Sequencing of all coding exons of the gene			3.357
USP8	Possible association with spastic paraplegia	Sequencing of all coding exons of the gene			3.357
VAPB	Cardiac Diseases	Sequencing of all coding exons of the gene			732
VCAN	Wagner Syndrome	Sequencing of all coding exons of the gene			10.191
VCP	Cardiac Diseases	Sequencing of all coding exons of the gene			2.421
VHL	Familial Erythrocytosis 2	Sequencing of all coding exons of the gene;Deletion and duplication analysis			642
VHL	Von Hippel-Lindau Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			642
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.622
VPS13A	Chorea-acanthocytosis	Sequencing of all coding exons of the gene			9.525
VPS13B	Cohen Syndrome	Sequencing of all coding exons of the gene;Deletion and duplication analysis			12.069
VPS35	Parkinson disease 17	Sequencing of all coding exons of the gene			2.391
VRK1	Pontocerebellar Hypoplasia Type 1	Sequencing of all coding exons of the gene			1.191
WDR35	Cranioectodermal dysplasia 2	Sequencing of all coding exons of the gene			3.546
WDR35	Short-rib thoracic dysplasia 7 with or without polydactyly	Sequencing of all coding exons of the gene			3.546
WDR45	Neurodegeneration with brain iron accumulation (NBIA)	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.086
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Sequencing of all coding exons of the gene	Deletion and duplication analysis		4.572
WDR73	Galloway-Mowat syndrome	Sequencing of all coding exons of the gene			1.137
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	Sequencing of all coding exons of the gene			5.826
WFS1	Wolfram Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		2.673
WHSC1	Wolf-Hirschhorn Syndrome	Sequencing of all coding exons of the gene			4.098
WISP3	Progressive Pseudorheumatoid Arthropathy of Childhood	Sequencing of all coding exons of the gene			1.119
WNT4	Mullerian aplasia and hyperandrogenism	Sequencing of all coding exons of the gene			1.056
WNT4	SERKAL syndrome	Sequencing of all coding exons of the gene			1.056
XIAP	Lymphoproliferative syndrome, X-linked, 2	Sequencing of all coding exons of the gene			1.494
XK	McLeod Neuroacanthocytosis Syndrome	Sequencing of all coding exons of the gene			1.335
XPR1	Basal ganglia calcification, idiopathic, 6	Sequencing of all coding exons of the gene			2.091
XYLT1	Desbuquois dysplasia 2	Sequencing of all coding exons of the gene			2.880
ZC4H2	Wieacker-Wolf syndrome	Sequencing of all coding exons of the gene			675
ZEB2	Mowat Wilson Syndrome	Sequencing of all coding exons of the gene	Deletion and duplication analysis		3.645
ZFPM2	Tetralogy of Fallot	Sequencing of all coding exons of the gene			3.456
ZFYVE26	Spastic Paraplegia 15	Sequencing of all coding exons of the gene			7.620
ZIC1	Craniosynostosis 6	Sequencing of all coding exons of the gene	Deletion and duplication analysis		1.344
ZIC2	Holoprosencephaly	Sequencing of all coding exons of the gene;Deletion and duplication analysis			1.599
ZIC4	Dany Walker Malformation	Sequencing of all coding exons of the gene			1.155

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