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!
What We Offer with the Single Gene and Segregation Analysis
Our Promise to You
Methods
Sanger Sequencing
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems.
Analysis of Deletions and Duplications
For the detection of deletions and duplications we use MLPA 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.
Gene List
| 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, Triple A 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 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |
| ABCA4 | Autosomal Recessive Retinitis Pigmentosa | 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 | |
| ABCA4 | Stargardt Disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |
| ABCB4 | Gallbladder disease 1, Low phospholipid associated cholelithiasis | 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 | Cholestasis, intrahepatic, of pregnancy, 3 | 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 | Nemaline Myopathy | Sequencing of all coding exons of the gene | 1.134 | ||
| ACTA1 | Congenital Fiber-Type Disproportion Myopathy | Sequencing of all coding exons of the gene | 1.134 | ||
| ACTA2 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | Sequencing of all coding exons of the gene | 1.176 | ||
| ACTA2 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | Sequencing of all coding exons of the gene | 1.176 | ||
| ACTA2 | MOYAMOYA DISEASE 5; MYMY5 | Sequencing of all coding exons of the gene | 1.176 | ||
| ACTG2 | Visceral myopathy | Sequencing of all coding exons of the gene | 1.131 | ||
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2, Rendu-Osler-Weber disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.554 | |
| ADA2 | Polyarteritis nodosa | Sequencing of all coding exons of the gene | 1.536 | ||
| ADAR | Dyschromatosis symmetrica hereditaria | Sequencing of all coding exons of the gene | 3.711 | ||
| ADAR | Aicardi-Goutieres syndrome 6 | Sequencing of all coding exons of the gene | 3.711 | ||
| ADCY5 | Dyskinesia, familial, with facial myokymia | Sequencing of all coding exons of the gene | 3.861 | ||
| ADSL | Adenylosuccinate Lyase Deficiency | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.581 | |
| AGA | Aspartylglycosaminuria | Sequencing of all coding exons of the gene | 1.041 | ||
| AGL | Glycogen Storage Disease Type III | Sequencing of all coding exons of the gene | 4.599 | ||
| AGPS | Rhizomelic chondrodysplasia punctata, type 3 | Sequencing of all coding exons of the gene | 2.031 | ||
| AGXT | Hyperoxaluria, Primary, Type 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.179 | ||
| AHI1 | Joubert Syndrome | Sequencing of all coding exons of the gene | 3.591 | ||
| AICDA | Hyper-IgM syndrome type 2 | Sequencing of all coding exons of the gene | 630 | ||
| AIPL1 | Cone-Rod-Dystrophy | 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 | |
| AIPL1 | Leber congenital amaurosis 4 | 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 | ||
| 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 | Hereditary 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 | 1.683 | |
| 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, infantile | Sequencing of all coding exons of the gene | 1.575 | ||
| 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 | Odontohypophosphatasia | Sequencing of all coding exons of the gene | 1.575 | ||
| ALS2 | Cardiac Diseases | Sequencing of all coding exons of the gene | 5.076 | ||
| 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 | 2.244 | ||
| 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, Cranio-cervical dystonia with laryngeal and upper-limb involvement | Sequencing of all coding exons of the gene | 3.129 | ||
| AP2S1 | Hypocalciuric hypercalcemia, familial, type III | Sequencing of all coding exons of the gene | 477 | ||
| APOA1 | Amyloidosis | Sequencing of all coding exons of the gene | 804 | ||
| APOA1 | Amyloidosis, 3 or more types, Hypoalphalipoproteinemia, Apolipoprotein A-I deficiency | Sequencing of all coding exons of the gene | 804 | ||
| APOA1 | ApoA-I deficiency | Sequencing of all coding exons of the gene | 804 | ||
| APOA2 | Apolipoprotein A-II deficiency, AApoAII amyloidosis | Sequencing of all coding exons of the gene | 303 | ||
| APOA5 | Hyperchylomicronemia, late-onset | Sequencing of all coding exons of the gene | 1.185 | ||
| APP | Alzheimer Dementia | Sequencing of hotspots | 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 | |
| AQP2 | Diabetes, insipidus, nephrogenic | Sequencing of all coding exons of the gene | 816 | ||
| 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 |
| AR | Kennedy Syndrome (Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1) | Repeat expansion 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 | 1.590 | ||
| 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 | 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 | |
| ARX | West-Syndrome | 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 | |
| ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy | Sequencing of all coding exons of the gene | 1.236 | ||
| ASAH1 | Farber lipogranulomatosis | 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 | 10.656 | |
| 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 | 2.103 | ||
| ATL1 | Neuropathy, hereditary sensory, type ID | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.860 | |
| ATL1 | Spastic paraplegia 3A, autosomal dominant | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.860 | |
| 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, Familial benign chronic pemphigus | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 4.596 | ||
| ATP7A | Menkes Disease | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 4.596 | ||
| 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, progressive familial intrahepatic 1 | Sequencing of all coding exons of the gene | 3.756 | ||
| 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 | ||
| 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 | 1.095 | ||
| ATXN7 | Spinocerebellar Ataxia 7 | Repeat expansion analysis | 2.838 | ||
| B9D1 | Meckel Syndrome | Sequencing of all coding exons of the gene | 615 | ||
| 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 | ||
| BBS2 | Bardet Biedl Syndrome | Sequencing of all coding exons of the gene | 2.211 | ||
| 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 | Lipodystrophy, congenital generalized, type 2 | Sequencing of all coding exons of the gene | 1.398 | ||
| BSCL2 | Silver spastic paraplegia syndrome | Sequencing of all coding exons of the gene | 1.398 | ||
| BSCL2 | Neuropathy, distal hereditary motor, type V | Sequencing of all coding exons of the gene | 1.398 | ||
| BTD | Biotinidase deficiency | Sequencing of all coding exons of the gene | 1.572 | ||
| C1QA | C1q DEFICIENCY; C1QD | Sequencing of all coding exons of the gene | 738 | ||
| C1QC | C1q DEFICIENCY; C1QD | Sequencing of all coding exons of the gene | 738 | ||
| C1QTNF5 | Late-Onset Retinal Degeneration | Sequencing of all coding exons of the gene | 732 | ||
| C9orf72 | Cardiac Diseases | Repeat expansion analysis | 1.479 | ||
| CABP4 | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 828 | ||
| CACNA1A | Familial hemiplegic Migraine Type 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.539 |
| CACNA1A | Spinocerebellar Ataxia Type 6 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.539 |
| CACNA1A | Paroxysmal Familial Ataxia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.539 |
| CACNA1A | Episodic Ataxia - Type 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.539 |
| CACNA1B | Dystonia 23 | Sequencing of all coding exons of the gene | 7.146 | ||
| CACNA1F | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | 5.934 | ||
| CACNA1F | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 5.934 | ||
| CACNA1H | Childhood absence Epilepsy | Sequencing of all coding exons of the gene | 7.077 | ||
| CACNA1H | Hyperaldosteronism, familial, type IV, epilepsy, childhood absence, susceptibility to, 6 | Sequencing of all coding exons of the gene | 7.077 | ||
| CACNB4 | Idiopathic generalised Epilepsy (IGE) | Sequencing of all coding exons of the gene | 1.563 | ||
| CACNB4 | Episodic Ataxia - Type 2 | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.868 | ||
| CASK | CASK-Related X-Linked Mental Retardation | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.868 | ||
| CASR | Familial hypocalciuric Hypercalcemia, Type 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.267 | ||
| CASR | Neonatal Severe Primary Hyperparathyroidism | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.267 | ||
| CASR | Autosomal Dominant Hypocalcemia | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.267 | ||
| CAVIN1 | Kongenitale generalisierte Lipodystrophie mit Muskeldystrophie | Sequencing of all coding exons of the gene | 1.173 | ||
| CCDC65 | Ciliary dyskinesia, primary, 27 | Sequencing of all coding exons of the gene | 1.455 | ||
| CCN6 | Progressive Pseudorheumatoid Arthropathy of Childhood | Sequencing of all coding exons of the gene | 1.065 | ||
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Sequencing of all coding exons of the gene | 912 | ||
| CCNQ | STAR syndrome | Sequencing of all coding exons of the gene | 741 | ||
| CD96 | C syndrome | Sequencing of all coding exons of the gene | 1.758 | ||
| CDH3 | Hypotrichosis, congenital, with juvenile macular dystrophy | Sequencing of all coding exons of the gene | 2.490 | ||
| CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy | Sequencing of all coding exons of the gene | 2.490 | ||
| 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 | West-Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.093 | ||
| CDKL5 | Epileptic Encephalopathy, Early Infantile, 2 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.093 | ||
| CDKL5 | West-Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.093 | ||
| CDKL5 | Rett Syndrome, Congenital Variant | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | ||
| CFAP410 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | 1.128 | ||
| CFAP410 | Retinitis Pigmentosa | Sequencing of all coding exons of the gene | 1.128 | ||
| CFAP410 | Spondylometaphyseal Dysplasia | Sequencing of all coding exons of the gene | 1.128 | ||
| CFAP410 | Jeune Syndrome | Sequencing of all coding exons of the gene | 1.128 | ||
| CFAP410 | Retinal Dystrophy | Sequencing of all coding exons of the gene | 1.128 | ||
| CFH | Atypical Hemolytic-Uremic Syndrome | 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 | Age-Dependent Macula Degeneration | Sequencing of all coding exons of the gene | 3.696 | ||
| CFTR | Cystic fibrosis | Sequencing of hotspots | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.443 |
| CFTR | Congenital bilateral absence of vas deferens (CBAVD) | Sequencing of hotspots | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.443 |
| CHCHD10 | Spinal muscular atrophy, Jokela type | 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 | Myopathy, isolated mitochondrial, autosomal dominant | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 450 | |
| CHD2 | Epileptic encephalopathy, childhood-onset, Lennox-Gastaut syndrome | Sequencing of all coding exons of the gene | 5.487 | ||
| CHD7 | Hypogonadotropic hypogonadism 5 with or without anosmia | 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 | CHARGE Syndrome | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.962 | ||
| CHMP2B | Frontotemporal Dementia | Sequencing of all coding exons of the gene | 690 | ||
| CHN1 | Duane Syndrome | Sequencing of all coding exons of the gene | 1.380 | ||
| CHRNA1 | Multiple pterygium syndrome, lethal type | Sequencing of all coding exons of the gene | 1.449 | ||
| CHRNA1 | Myasthenic Syndrome | 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 | 2.865 | ||
| CLCN1 | Myotonia Congenita | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.967 | |
| CLCN5 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | Sequencing of all coding exons of the gene | 2.451 | ||
| CLCN5 | Hypophosphatemic rickets | Sequencing of all coding exons of the gene | 2.451 | ||
| CLCN5 | Dent disease type 1 | Sequencing of all coding exons of the gene | 2.451 | ||
| CLCN5 | Nephrolithiasis, type I | Sequencing of all coding exons of the gene | 2.451 | ||
| CLN3 | Neuronal Ceroid-Lipofuscinosis | Sequencing of all coding exons of the gene | 1.317 | ||
| CLN3 | Progressive epilepsy intellectual disability syndrome, Finnish type | Sequencing of all coding exons of the gene | 1.317 | ||
| CLN5 | Neuronal Ceroid-Lipofuscinoses | Sequencing of all coding exons of the gene | 1.077 | ||
| CLN6 | Neuronal Ceroid-Lipofuscinoses | Sequencing of all coding exons of the gene | 1.032 | ||
| CLN8 | Neuronal Ceroid-Lipofuscinoses | Sequencing of all coding exons of the gene | 861 | ||
| CLPB | 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN | Sequencing of all coding exons of the gene | 2.124 | ||
| 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 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.430 |
| CNGB3 | Stargardt Disease | Sequencing of hotspots | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.430 |
| CNTNAP2 | Pitt-Hopkins-Like Syndrome 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | 5.265 | ||
| COL2A1 | Kniest Dysplasia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.464 | |
| COL2A1 | Stickler Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.464 | |
| COL4A1 | Brain small vessel disease with or without ocular anomalies | Sequencing of all coding exons of the gene | 5.010 | ||
| COL4A1 | Retinal arteries, tortuosity of | Sequencing of all coding exons of the gene | 5.010 | ||
| COL4A1 | Porencephaly 1 | 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 | ||
| COL4A3 | Hematuria, benign familial | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.013 | |
| COL4A3 | Alport syndrome | 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 | Multiple epiphyseal Dysplasia | Sequencing of all coding exons of the gene | 2.274 | ||
| COMP | Pseudoachondroplasia | 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 | ||
| 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 | ||
| COX15 | Leigh syndrome with leukodystrophy | Sequencing of all coding exons of the gene | 1.233 | ||
| COX15 | Fatal infantile cytochrome C oxidase deficiency | Sequencing of all coding exons of the gene | 1.233 | ||
| 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 | |
| CRPPA | Congenital Muscular Dystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.356 | |
| CRX | Retinitis Pigmentosa | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 900 | ||
| CRX | Leber Congenital Amaurosis 7 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 900 | ||
| CSF1R | Leukoencephalopathy with spheroids | Sequencing of hotspots | 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) | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.406 | ||
| CSTB | Progressive Myoclonus Epilepsy with Ataxia | Repeat expansion analysis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 297 |
| CSTB | Progressive Myoclonus Epilepsy with Ataxia | Repeat expansion analysis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 297 |
| CTLA4 | Autoimmune lymphoproliferative syndrome due to CTL4A haploinsufficiency (type V) | Sequencing of all coding exons of the gene | 744 | ||
| 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 | 1.518 | ||
| CTSF | Progressive epilepsy intellectual disability syndrome, Finnish type | Sequencing of all coding exons of the gene | 1.518 | ||
| CYP19A1 | Aromatase deficiency | Sequencing of all coding exons of the gene | 1.512 | ||
| CYP27A1 | Cerebrotendinous Xanthomatosis | Sequencing of all coding exons of the gene | 1.596 | ||
| DARS1 | 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 | 1.575 | ||
| DCC | Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 4.344 | |||
| 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 | |
| DES | Myopathy, myofibrillar, 1 | 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 | Muscular dystrophy, limb-girdle, type 2R | 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 | ||
| 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 | Dihydrolipoamide Dehydrogenase (E3) Deficiency | Sequencing of all coding exons of the gene | 1.530 | ||
| DLD | Leigh Syndrome | Sequencing of all coding exons of the gene | 1.530 | ||
| DLD | Maple Syrup Urine Disease | Sequencing of all coding exons of the gene | 1.530 | ||
| DMD | Becker muscular dystrophy | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 11.058 | |
| DMD | Duchenne muscular dystrophy | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 11.058 | |
| DMD | Cardiomyopathy, dilated | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 11.058 | |
| DMP1 | Hypophosphatemic rickets, autosomal recessive | Sequencing of all coding exons of the gene | 1.542 | ||
| DNAAF11 | Ciliary dyskinesia, primary, 19 | Sequencing of all coding exons of the gene | 1.401 | ||
| DNAAF4 | Ciliary dyskinesia, primary, 25 | Sequencing of all coding exons of the gene | 1.263 | ||
| DNAAF5 | Ciliary dyskinesia, primary, 18 | Sequencing of all coding exons of the gene | 2.568 | ||
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.112 | |
| DNAJC5 | Neuronal Ceroid-Lipofuscinoses | Sequencing of all coding exons of the gene | 597 | ||
| DOK7 | Myasthenic Syndrome | Sequencing of all coding exons of the gene | 1.827 | ||
| 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 | |
| ECHS1 | Leigh syndrome with leukodystrophy, 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 dysplasia | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.041 | ||
| EGF | Hypomagnesemia 4, renal | Sequencing of all coding exons of the gene | 3.624 | ||
| EGR2 | Charcot-Marie-Tooth Neuropathy Type 1D | Sequencing of all coding exons of the gene | 1.470 | ||
| EGR2 | Charcot-Marie-Tooth Neuropathy Type 4E | Sequencing of all coding exons of the gene | 1.470 | ||
| ELANE | Neutropenia, severe congenital 1, autosomal dominant | Sequencing of hotspots | Sequencing of all coding exons of the gene | 804 | |
| ELANE | Neutropenia, cyclic | Sequencing of hotspots | 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 | ||
| 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 | 2.097 | |
| EOMES | Microcephaly Syndrome | Sequencing of all coding exons of the gene | 2.118 | ||
| EP300 | Rubinstein-Taybi syndrome 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 7.245 | |
| EPM2A | Lafora Disease | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 996 | ||
| ERCC1 | Xeroderma Pigmentosum | Sequencing of all coding exons of the gene | 972 | ||
| ERCC2 | Xeroderma Pigmentosum | Sequencing of all coding exons of the gene | 2.490 | ||
| ERCC4 | Xeroderma Pigmentosum | Sequencing of all coding exons of the gene | 2.889 | ||
| ERCC5 | Xeroderma Pigmentosum | Sequencing of all coding exons of the gene | 3.561 | ||
| ERCC6 | Cockayne Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.482 | |
| ERCC6 | Age-Dependent Macula Degeneration | 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 | 1.248 | ||
| ETFA | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequencing of all coding exons of the gene | 1.221 | ||
| ETFA | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequencing of all coding exons of the gene | 1.221 | ||
| ETFB | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequencing of all coding exons of the gene | 1.041 | ||
| 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 | 1.857 | ||
| ETFDH | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequencing of all coding exons of the gene | 1.857 | ||
| ETHE1 | Ethylmalonic encephalopathy | Sequencing of all coding exons of the gene | 783 | ||
| 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 | Congenital factor II deficiency (Dysprothrombinemia/Hypoprothrombinemia) | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.869 | |
| F2 | Thrombophilia due to thrombin defect | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.869 | |
| F5 | Factor V Leiden mutation / APC resistance | Sequencing of hotspots | Sequencing of all coding exons of the gene | 6.675 | |
| F9 | Hemophilia B | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| FA2H | Spastic Paraplegia 35 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.119 | |
| FA2H | Fatty Acid Hydroxylase-Associated Neurodegeneration | 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 | ||
| FANCC | Fanconi anemia, complementation group C; FANCC | Sequencing of all coding exons of the gene | 1.677 | ||
| FANCG | Fanconi anemia | Sequencing of all coding exons of the gene | 1.869 | ||
| FAS | Autoimmune lymphoproliferative syndrome, type IA | Sequencing of all coding exons of the gene | 1.008 | ||
| FGA | Hereditary amyloidosis (FGA and TTR gene) | Sequencing of hotspots | 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 | Tumoral calcinosis, hyperphosphatemic, familial | Sequencing of all coding exons of the gene | 756 | ||
| 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 | ||
| 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 | Craniosynostosis, nonspecific | 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 | Pfeiffer syndrome | 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 | ||
| FGFR2 | Scaphocephaly and Axenfeld-Rieger anomaly | Sequencing of all coding exons of the gene | 2.469 | ||
| FGFR2 | Apert 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 | Craniofacial-skeletal-dermatologic dysplasia | 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 | LADD syndrome | Sequencing of all coding exons of the gene | 2.469 | ||
| FGFR2 | Crouzon 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 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | Sequencing of all coding exons of the gene | 2.469 | ||
| FGFR3 | Achondroplasia | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | THANATOPHORIC DYSPLASIA, TYPE II; TD2 | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Saddan Syndrome | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Crouzon Syndrome with Acanthosis Nigricans | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Lacrimo-Auriculo-Dento-Digital Syndrome | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Hypochondroplasia | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Crouzon Syndrome | Sequencing of hotspots | Sequencing of all coding exons of the gene | 2.427 | |
| FGFR3 | Muenke Syndrome | Sequencing of hotspots | 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 | 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 | ||
| FLT4 | Hemangioma, capillary infantile, somatic | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.662 | ||
| FOXC1 | Axenfeld-Rieger Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR | Sequencing of all coding exons of the gene | 6.540 | ||
| 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 | ||
| 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 | ||
| G6PC1 | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | 1.590 | |
| 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 | ||
| GABRD | Juvenile Myoclonus Epilepsy (JME) | 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 | |
| GARS1 | Neuropathy, distal hereditary motor, type V | Sequencing of all coding exons of the gene | 2.238 | ||
| GARS1 | Charcot-Marie-Tooth disease, type 2D | Sequencing of all coding exons of the gene | 2.238 | ||
| GATA1 | GATA1-Related Anemia with Thrombocytopenia | Sequencing of all coding exons of the gene | 1.257 | ||
| GATA2 | Emberger syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.725 | |
| GATA2 | Immunodeficiency 21 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.725 | |
| GATA6 | Atrioventricular septal defect 5 | Sequencing of all coding exons of the gene | 1.788 | ||
| GATA6 | Tetralogy of Fallot | Sequencing of all coding exons of the gene | 1.788 | ||
| GATA6 | Atrial septal defect 9 | 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 | ||
| 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 | 1.569 | ||
| GCH1 | Dopa-responsive Dystonia DYT5 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 753 | |
| GCK | Hyperinsulinemic hypoglycemia, familial, 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.461 | |
| GCK | Diabetes mellitus, gestational | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.461 | |
| GCK | Diabetes mellitus, noninsulin-dependent, late onset | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.461 | |
| GCK | MODY, type II | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.461 | |
| GCK | Diabetes mellitus, permanent neonatal | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.461 | |
| 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 4A | Sequencing of all coding exons of the gene | 1.155 | ||
| GDAP1 | Charcot-Marie-Tooth Neuropathy Type 2H | Sequencing of all coding exons of the gene | 1.155 | ||
| GDAP1 | Charcot-Marie-Tooth Neuropathy Type 2K | Sequencing of all coding exons of the gene | 1.155 | ||
| GDF2 | Hereditary hemorrhagic telangiectasia | Sequencing of all coding exons of the gene | 1.290 | ||
| GDF9 | Ovarialinsuffizienz, primäre | Sequencing of all coding exons of the gene | 1.365 | ||
| GFAP | Alexander Syndrome | Sequencing of all coding exons of the gene | 1.419 | ||
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | Sequencing of all coding exons of the gene | 618 | ||
| GJA1 | Syndactyly, Type III | Sequencing of all coding exons of the gene | 1.149 | ||
| GJA1 | Oculodentodigital Dysplasia | Sequencing of all coding exons of the gene | 1.149 | ||
| GJA1 | Hypoplastic Left Heart Syndrome | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 681 | ||
| GJB2 | DFNB 1 Nonsyndromic Hearing Loss and Deafness | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 681 | ||
| GJB2 | Vohwinkel Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 681 | ||
| GJB2 | DFNA 3 Nonsyndromic Hearing Loss and Deafness | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 786 | ||
| GJB6 | DFNA 3 Nonsyndromic Hearing Loss and Deafness | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 786 | ||
| GJC2 | Pelizaeus-Merzbacher-Like Disease 1 | Sequencing of all coding exons of the gene | 1.320 | ||
| GJC2 | Spastic Paraplegia 44 | 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 | 1.413 | |
| GLB1 | Mucopolysaccharidosis Type 4B | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.178 | |
| GLB1 | GM1-Gangliosidosis Type 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.178 | |
| GLDC | Glycine Encephalopathy | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.063 | ||
| GLE1 | Lethal Congenital Contracture Syndrome 1 (LCCS1) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.124 | |
| GLE1 | Lethal Arthrogryposis with anterior horn cell disease (LAAHD) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.124 | |
| GLI2 | Holoprosencephaly-9 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.761 | |
| GLI2 | Culler-Jones syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.761 | |
| GLI3 | Greig Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | 1.524 | ||
| GNA11 | Hypocalciuric hypercalcemia, type II | Sequencing of all coding exons of the gene | 1.080 | ||
| GNA11 | Hypocalcemia, autosomal dominant 2 | 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 | ||
| GNAQ | Capillary malformations, congenital, 1, somatic, mosaic | Sequencing of all coding exons of the gene | 1.080 | ||
| 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 | 966 | ||
| 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 | 774 | ||
| 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 | 2.106 | ||
| GRIN2A | Epilepsy with neurodevelopmental defects | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | |
| GYS2 | Glycogen storage disease due to hepatic glycogen synthase deficiency | Sequencing of all coding exons of the gene | 2.112 | ||
| HAMP | Hemochromatosis, type 2B | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 255 | |
| 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 | 1.245 | ||
| 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 | 1.623 | |
| HEXA | Tay-Sachs Disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.623 | |
| HFE | Hereditary Hemochromatosis | Sequencing of hotspots | 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 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.047 |
| HGSNAT | Retinitis pigmentosa 73 | Sequencing of all coding exons of the gene | 1.908 | ||
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) | 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 | |
| HJV | Hemochromatosis type 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.281 | |
| HNF1A | Maturity-Onset Diabetes of the Young Type 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.917 | |
| HNF1B | Diabetes mellitus | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 1.674 | |
| HNF1B | Renal cysts and diabetes syndrome | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 1.674 | |
| HNF4A | MODY, type I | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.425 | |
| 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 | |
| HOGA1 | Hyperoxaluria, Primary, Type 3 | Sequencing of all coding exons of the gene | 984 | ||
| 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, type I | Sequencing of all coding exons of the gene | 1.032 | ||
| 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 | ||
| 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 | ||
| 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 | |
| IFIH1 | Aicardi-Goutieres Syndrome 7 | Sequencing of all coding exons of the gene | 3.078 | ||
| IFIH1 | Singleton-Merten syndrome I | Sequencing of all coding exons of the gene | 3.078 | ||
| 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 | ||
| IPMK | Hereditary neuroendocrine tumor of small intestine | Sequencing of all coding exons of the gene | 1.251 | ||
| 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 | ||
| ITM2B | Familial dementia / Amyloidosis | Sequencing of all coding exons of the gene | 801 | ||
| ITM2B | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Sequencing of all coding exons of the gene | 801 | ||
| 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 | 2.307 | ||
| KCND3 | Spinocerebellar ataxia 19 | Sequencing of all coding exons of the gene | 1.968 | ||
| KCND3 | Brugada syndrome 9 | Sequencing of all coding exons of the gene | 1.968 | ||
| KCNE1 | Romano-Ward Syndrome (Long-QT-Syndrome) | Sequencing of all coding exons of the gene | 390 | ||
| KCNE1 | Jervell and Lange-Nielsen 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 | Short QT syndrome 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.284 | |
| 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 | |
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.673 | ||
| 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 | 945 | ||
| 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 | Spastic paraplegia 30 | Sequencing of all coding exons of the gene | 5.427 | ||
| KIF1A | Neuropathy, hereditary sensory, type IIC | Sequencing of all coding exons of the gene | 5.427 | ||
| KIF1A | Mental retardation, autosomal dominant 9 | Sequencing of all coding exons of the gene | 5.427 | ||
| KIF1B | Charcot-Marie-Tooth disease, type 2A1 | Sequencing of all coding exons of the gene | 5.514 | ||
| KIF5A | Spastic Paraplegia 10 | Sequencing of all coding exons of the gene | 3.120 | ||
| KIT | Piebaldism | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.934 | |
| KIT | Gastrointestinal stromal tumor, familial | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.934 | |
| KIT | Germ cell tumors | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.934 | |
| KIT | Leukemia, acute myeloid | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.934 | |
| KIT | Mast cell disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.934 | |
| KMT2A | Wiedemann-Steiner syndrome | Sequencing of all coding exons of the gene | 12.009 | ||
| KMT2A | Leukemia, myeloid/lymphoid or mixed-lineage | Sequencing of all coding exons of the gene | 12.009 | ||
| 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, recessive 1 | 1.773 | |||
| 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 | ||
| KRT5 | Epidermolysis bullosa simplex-MP | 1.773 | |||
| KRT5 | Epidermolysis bullosa simplex, Weber-Cockayne type | 1.773 | |||
| KRT5 | Epidermylysis bullosa simplex-MCR | 1.773 | |||
| KRT5 | Epidermolysis bullosa simplex, Koebner type | 1.773 | |||
| KRT6C | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | Sequencing of all coding exons of the gene | 1.695 | ||
| L1CAM | CRASH syndrome | 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 | ||
| L1CAM | Hydrocephalus due to aqueductal stenosis | Sequencing of all coding exons of the gene | 3.774 | ||
| L1CAM | Corpus callosum, partial agenesis of | 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 | ||
| L2HGDH | L-2-Hydroxyglutaric Aciduria | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.392 | ||
| LAMA1 | Poretti-Boltshauser syndrome | Sequencing of all coding exons of the gene | 9.228 | ||
| LAMA2 | Muscular dystrophy, congenital | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 9.369 | ||
| LARS1 | 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 | 2.841 | ||
| 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 pseudohermaphroditism | 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 | Precocious puberty, male | 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 | ||
| LHX3 | Pituitary hormone deficiency, combined, 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.209 | |
| LMNA | Hutchinson-Gilford progeria | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Muscular dystrophy, limb-girdle, type 1B | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Lipodystrophy, familial partial, 2 | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Emery-Dreifuss muscular dystrophy 3, AR | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Emery-Dreifuss muscular dystrophy 2, AD | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Restrictive dermopathy, lethal | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Charcot-Marie-Tooth disease, type 2B1 | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Muscular dystrophy, congenital | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Heart-hand syndrome, Slovenian type | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Malouf syndrome | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Cardiomyopathy, dilated, 1A | Sequencing of all coding exons of the gene | 2.190 | ||
| LMNA | Mandibuloacral dysplasia | Sequencing of all coding exons of the gene | 2.190 | ||
| 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 | ||
| LPIN2 | Majeed syndrome | Sequencing of all coding exons of the gene | 2.691 | ||
| 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 | ||
| LRMDA | Albinism, oculocutaneous, type VII | Sequencing of all coding exons of the gene | 681 | ||
| 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 | Van Buchem Disease, Type 2 | 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 | Familial Exudative Vitreoretinopathy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.848 | |
| LRRK2 | Parkinson Syndrome | Sequencing of hotspots | 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 | Sequencing of all coding exons of the gene | 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 | 1.656 | ||
| MAPT | Frontotemporal Dementia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.502 | |
| 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 | 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 | 5.184 | |
| 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 | ||
| MECP2 | severe neonatal-onset encephalopathy with microcephaly | Sequencing of hotspots | 1.497 | ||
| MECP2 | Rett Syndrome | Sequencing of hotspots | Deletion and duplication analysis | 1.497 | |
| MECP2 | Xq28 Duplication Syndrome | Sequencing of hotspots | Deletion and duplication analysis | 1.497 | |
| MED13L | Transposition of the great arteries, dextro-looped 1 | Sequencing of all coding exons of the gene | 6.669 | ||
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.452 | ||
| MEFV - HS1 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.766 | |
| MEFV - HS1 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.766 | |
| MEFV - HS2 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.568 | |
| MEFV - HS2 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.568 | |
| MEFV - HS3 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE | Sequencing of hotspots | Sequencing of all coding exons of the gene | 776 | |
| MEFV - HS3 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | Sequencing of hotspots | Sequencing of all coding exons of the gene | 776 | |
| MEN1 | Multiple Endocrine Neoplasia Type 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.959 | |
| MEN1 | Hyperparathyroidism 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.959 | |
| 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 | 2.427 | |
| MFSD8 | Neuronal Ceroid-Lipofuscinosis | Sequencing of all coding exons of the gene | 1.557 | ||
| MFSD8 | Progressive epilepsy intellectual disability syndrome, Finnish type | 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) | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.004 | ||
| MITF | Waardenburg Syndrome Type IIA | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.581 | |
| MITF | Tietz Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.581 | |
| MOCS1 | Molybdenum Cofactor Deficiency | Sequencing of all coding exons of the gene | 1.911 | ||
| MPDZ | nonsyndromic Hydrocephalus, autosomal recessive 2 | Sequencing of all coding exons of the gene | 6.213 | ||
| MPI | Congenital disorder of glycosylation, type Ib | Sequencing of all coding exons of the gene | 1.272 | ||
| 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 | ||
| MPL | Myelofibrosis with myeloid metaplasia, somatic | Sequencing of all coding exons of the gene | 1.908 | ||
| MPZ | Charcot-Marie-Tooth Neuropathy Type 2J | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 939 | |
| MPZ | Charcot-Marie-Tooth Neuropathy Type 2I | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 939 | |
| MRE11 | Ataxia Teleangiectatica (AT) | Sequencing of all coding exons of the gene | 2.127 | ||
| 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 | Witkop Syndrome | Sequencing of all coding exons of the gene | 912 | ||
| MSX1 | Tooth Agenesis, Selective, 1 | 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 | 1.857 | |
| MT-ND4 | Leber optic atrophy | Sequencing of hotspots | 1.378 | ||
| MTRFR | Combined Oxidative Phosphorylation Deficiency 7 | Sequencing of all coding exons of the gene | 501 | ||
| MTTP | Abetalipoproteinemia | Sequencing of all coding exons of the gene | 2.685 | ||
| MUSK | MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9 | Sequencing of all coding exons of the gene | 2.610 | ||
| MUSK | FETAL AKINESIA DEFORMATION SEQUENCE; FADS | Sequencing of all coding exons of the gene | 2.610 | ||
| 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 | Sequencing of all coding exons of the gene | 1.191 | |
| MVK | Porokeratosis 3, disseminated superficial actinic | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.191 | |
| MVK | Mevalonic aciduria | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.191 | |
| MYBPC3 | Cardiomyopathy, dilated | 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 | ||
| MYD88 | MYD88 deficiency | Sequencing of all coding exons of the gene | 915 | ||
| MYH11 | Aortic aneurysm, familial thoracic 4 | Sequencing of all coding exons of the gene | 5.940 | ||
| 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 | ||
| MYH3 | Arthrogryposis, distal, type 2A | Sequencing of all coding exons of the gene | 5.823 | ||
| MYH7 | Left ventricular noncompaction 5 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.835 | |
| MYH7 | Cardiomyopathy, dilated | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.835 | |
| MYH7 | MYH7-Related Myosin Storage Myopathy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.835 | |
| MYH9 | May-Hegglin anomaly | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYH9 | Epstein syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYH9 | Macrothrombocytopenia and progressive sensorineural deafness | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYH9 | Fechtner syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYH9 | Deafness, autosomal dominant 17 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYH9 | Sebastian syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.946 | |
| MYMK | Carey-Fineman-Ziter Syndrome | Sequencing of all coding exons of the gene | 666 | ||
| NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Sequencing of all coding exons of the gene | 2.232 | ||
| NAGLU | Charcot-Marie-Tooth disease, axonal, type 2V | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 402 | ||
| NELFA | Wolf-Hirschhorn Syndrome | Sequencing of all coding exons of the gene | 1.620 | ||
| NF1 | Watson Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 8.550 | |
| NF1 | Neurofibromatosis-Noonan Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 8.550 | |
| NF1 | Familial Spinal Neurofibromatosis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 8.550 | |
| NF1 | Neurofibromatosis 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 8.550 | |
| NF2 | Neurofibromatosis 2 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.788 | ||
| NFIX | Marshall-Smith Syndrome | Sequencing of all coding exons of the gene | 1.533 | ||
| NFIX | Sotos 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 | 915 | ||
| 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 | Asperger syndrome susceptibility, X-linked 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.511 | |
| NLGN4X | Mental retardation, X-linked | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.511 | |
| NLGN4X | Autism susceptibility, X-linked 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.511 | |
| 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 | Muckle-Wells Syndrome | Sequencing of hotspots | Sequencing of all coding exons of the gene | 3.111 | |
| NLRP3 | Familial Cold Autoinflamma- tory Syndrome (FCAS) | Sequencing of hotspots | Sequencing of all coding exons of the gene | 3.111 | |
| NLRP3 | Chronic Infantile Neurological Cutaneous and Articular Syndrome | Sequencing of hotspots | 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 | 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 | ||
| NOD2 | Blau syndrome/early-onset sarcoidosis (mutation in exon 4 of 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 | 660 | ||
| 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 | 525 | |
| NPHP1 | Joubert Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.202 | ||
| NPHP1 | Senior-Loken syndrome 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | Retinitis Pigmentosa | Sequencing of all coding exons of the gene | 1.233 | ||
| NR2E3 | Goldmann-Favre-Syndrome | Sequencing of all coding exons of the gene | 1.233 | ||
| NR5A1 | 46 XX ovotesticular disorder of sex development | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| NR5A1 | 46, XX, testicular disorder of sex development | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| NR5A1 | Male infertility with azoospermia or oligozoopermia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| NR5A1 | 46 XX gonadal dysgenesis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| NR5A1 | 46, XY complete and partial gonadal dysgenesis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.386 | |
| NRXN1 | Pitt-Hopkins-Like Syndrome 2 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 4.644 | ||
| NSD1 | Sotos Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 8.091 | ||
| NSD1 | Weaver Syndrome 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 8.091 | ||
| NSD2 | Wolf-Hirschhorn Syndrome | Sequencing of all coding exons of the gene | 4.098 | ||
| NTNG1 | Atypical Rett syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.620 | |
| NYX | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 1.431 | ||
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia | Sequencing of all coding exons of the gene | 1.320 | ||
| OCA2 | Albinism, oculocutaneous, type II | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.517 | |
| OCA2 | Albinism, brown oculocutaneous | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.517 | |
| OCRL | Dent disease type 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 | Oral-Facial-Digital Syndrome Type 1 | Sequencing of all coding exons of the gene | 3.039 | ||
| OFD1 | Joubert Syndrome | 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 | 3.105 | ||
| 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 | Myopathy, tubular aggregate, 2 | Sequencing of all coding exons of the gene | 912 | ||
| ORAI1 | Immunodeficiency 9 | 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 | Repeat expansion analysis | Sequencing of all coding exons of the gene | 921 | |
| PAFAH1B1 | Lissencephaly | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 1.287 | |
| 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 | 3.567 | |
| PANK2 | Neurodegeneration with brain iron accumulation (NBIA) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.713 | |
| PARK7 | Juvenile Parkinson Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 570 | ||
| PAX6 | Cataract with late-onset corneal dystrophy | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.467 | ||
| PAX6 | Aniridia | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.467 | ||
| PAX6 | Coloboma of optic nerve | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.467 | ||
| PAX6 | Coloboma, ocular | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.467 | ||
| PAX8 | Congenital Hypothyroidism | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.362 | |
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.287 | ||
| PEX1 | Zellweger Syndrome | Sequencing of all coding exons of the gene | 3.852 | ||
| PEX1 | Peroxisome Biogenesis Disorders (PBD) | 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 | ||
| 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 | Axenfeld-Rieger Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 975 | ||
| PITX2 | Peters Anomaly | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 975 | ||
| PKD1 | Polycystic kidney disease 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 12.912 | |
| PKD2 | Polycystic kidney disease 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.907 | |
| 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 | |
| PLA2G5 | Familial benign flecked retina | Sequencing of all coding exons of the gene | 417 | ||
| PLA2G6 | Parkinsonism and Dystonia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.463 | |
| PLA2G6 | Neurodegeneration with brain iron accumulation (NBIA) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.463 | |
| PLCB1 | Epileptic Encephalopathy, Early Infantile, 12 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.651 | ||
| PLCB1 | Epileptic Encephalopathy, Early Infantile, 12 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | Muscular dystrophy, limb-girdle, type 2Q | 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 nail 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 | |
| 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 | 654 | |
| PMP22 | Hereditary Neuropathy with liability to pressure palsies | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 654 | |
| PNKD | Paroxysmal nonkinesiogenic dyskinesia 1 PNKD1 | Sequencing of all coding exons of the gene | 1.275 | ||
| 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 | Mitochondrial recessive Ataxia 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 | 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 | |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Sequencing of all coding exons of the gene | 1.458 | ||
| POLR1C | Treacher Collins syndrome 3 | Sequencing of all coding exons of the gene | 1.041 | ||
| POLR1C | Leukodystrophy, hypomyelinating, 11 | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | 1.008 | |
| PQBP1 | Renpenning Syndrome 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | ||
| 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 | 2.133 | ||
| PRKN | Juvenile Parkinson Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.398 | ||
| PRKRA | Dystonia 16 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 942 | |
| PRKRA | Early Onset Dystonia with Parkinsonism | 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 | ||
| PROC | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 | Sequencing of all coding exons of the gene | 1.488 | ||
| 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 | Adult-Onset Vitelliform Macular 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 | Cone-Rod-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 | 966 | ||
| PRPS1 | DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness | Sequencing of all coding exons of the gene | 966 | ||
| PRRT2 | Benign familial infantile epilepsy | 1.185 | |||
| PRRT2 | Infantile convulsions and choreoathetosis | 1.185 | |||
| PRRT2 | Familial paroxysmal kinesigenic dyskinesia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.185 | |
| PRSS1 | Trypsinogen deficiency | Sequencing of all coding exons of the gene | 744 | ||
| PRSS1 | Pancreatitis, hereditary | Sequencing of all coding exons of the gene | 744 | ||
| 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 | ||
| PSAP | Encephalopathy due to prosaposin deficiency | 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 | 1.431 | |
| PSEN2 | Alzheimer Dementia | Sequencing of all coding exons of the gene | 1.584 | ||
| 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 | 1.446 | ||
| PTCH1 | Holoprosencephaly | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.344 | |
| 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 | ||
| PTCH2 | Basal cell carcinoma, somatic | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.731 | ||
| PTEN | Lhermitte-Duclos syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.731 | ||
| PTEN | Cowden syndrome 1 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.731 | ||
| PTEN | Macrocephaly/Autism Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.731 | ||
| PTH | HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE | Sequencing of all coding exons of the gene | 348 | ||
| PTH | HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT | Sequencing of all coding exons of the gene | 348 | ||
| PTPN11 | LEOPARD syndrome 1 | Sequencing of all coding exons of the gene | 2.016 | ||
| PTPN11 | Noonan syndrome 1 | Sequencing of all coding exons of the gene | 2.016 | ||
| PTPN11 | Metachondromatosis | Sequencing of all coding exons of the gene | 2.016 | ||
| PTPN11 | Leukemia, juvenile myelomonocytic, somatic | Sequencing of all coding exons of the gene | 2.016 | ||
| 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 | 1.827 | ||
| RBBP8 | Jawad Syndrome | Sequencing of all coding exons of the gene | 2.709 | ||
| RBBP8 | Seckel Syndrome | Sequencing of all coding exons of the gene | 2.709 | ||
| RBM10 | TARP syndrome | Sequencing of all coding exons of the gene | 2.988 | ||
| 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 | 855 | |
| REPS1 | Neurodegeneration with brain iron accumulation (NBIA) | Sequencing of all coding exons of the gene | 2.391 | ||
| 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 | |
| RHO | Night blindness, congenital stationary, autosomal dominant 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.047 | |
| 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 | ||
| RLBP1 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | 954 | ||
| RLBP1 | Fundus albipunctatus | Sequencing of all coding exons of the gene | 954 | ||
| RMRP | Anauxetic dysplasia | Sequencing of all coding exons of the gene | 0 | ||
| RMRP | Omenn Synrome | Sequencing of all coding exons of the gene | 0 | ||
| RMRP | Cartilage-hair hypoplasia | Sequencing of all coding exons of the gene | 0 | ||
| RNASEH2B | Aicardi-Goutieres syndrome 2 | Sequencing of all coding exons of the gene | 1.068 | ||
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.053 | ||
| 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 | |
| RPE65 | Autosomal Dominant Retinitis Pigmentosa | 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 | 1.272 | |
| 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 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.566 | |
| RUNX2 | Cleidocranial dysplasia | 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 | 369 | ||
| SACS | Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 13.767 | |
| 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 | IVIC syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.162 | ||
| SALL4 | Duane-radial ray syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.162 | ||
| SAMHD1 | Aicardi-Goutieres syndrome 5 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.881 | ||
| SAMHD1 | Chilblain lupus 2 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.881 | ||
| SBDS | Shwachman Diamond Syndrome | Sequencing of all coding exons of the gene | 753 | ||
| SCN1A | Familial hemiplegic Migraine Type 3 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 6.030 | ||
| SCN1A | Generalised Epilepsy with febrile seizures plus (GEFS+) | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | focal epilepsy | Sequencing of all coding exons of the gene | 6.003 | ||
| SCN4A | Paramyotonia Congenita | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 5.511 | |
| SCN4A | Myasthenic Syndrome | 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 | Congenital Indifference to Pain, Autosomal Recessive | Sequencing of all coding exons of the gene | 5.967 | ||
| SCN9A | Inherited Erythromelalgia | Sequencing of all coding exons of the gene | 5.967 | ||
| SCN9A | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequencing of all coding exons of the gene | 5.967 | ||
| SCN9A | Paroxysmal Extreme Pain Disorder | Sequencing of all coding exons of the gene | 5.967 | ||
| 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 | 594 | ||
| SDHB | Paraganglioma and Gastric Stromal Sarcoma | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 888 | ||
| SDHB | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 888 | ||
| SDHB | Cowden-Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 888 | ||
| SDHD | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 480 | ||
| SDHD | Cowden-Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 480 | ||
| SDHD | Paraganglioma and Gastric Stromal Sarcoma | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 480 | ||
| SEMA3E | CHARGE Syndrome | Sequencing of all coding exons of the gene | 2.328 | ||
| SEPTIN9 | Amyotrophy, hereditary neuralgic | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.761 | |
| SERPINC1 | Thrombophilia due to Antithrombin III Deficiency | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.395 | ||
| SERPING1 | Complement component 4, partial deficiency of | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.503 | |
| SERPING1 | Angioedema, hereditary, types I and II | 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 | 1.146 | ||
| SFTPB | Pulmonary surfactant metabolism dysfunction type 1 (Surfactant protein B deficiency; SFTPB gene) | Sequencing of all coding exons of the gene | 1.146 | ||
| 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 | 1.503 | |
| SGSH | Mucopolysaccharidosis Type IIIA | Sequencing of all coding exons of the gene | 1.509 | ||
| SH2D1A | Lymphoproliferative syndrome, X-linked | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 387 | |
| SHH | Schizencephaly | 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 | Single median maxillary central incisor | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.389 | |
| SHH | Holoprosencephaly-3 | 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 | |
| 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 | |
| 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 | 1.527 | ||
| SLC1A3 | Episodic Ataxia Type 6 | Sequencing of all coding exons of the gene | 1.770 | ||
| SLC22A5 | Carnitine deficiency, systemic primary | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.746 | |
| 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 | 2.241 | ||
| SLC2A1 | GLUT1 Deficiency Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.058 | ||
| SLC40A1 | Hereditary Hemochromatosis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.716 | |
| SLC45A2 | Albinism, oculocutaneous, type IV | 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 | Spherocytosis, type 4 | Sequencing of all coding exons of the gene | 2.736 | ||
| SLC4A1 | Ovalocytosis | 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 | Renal tubular acidosis, distal, AD | 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 | 1.908 | ||
| SLC6A1 | MYOCLONIC-ATONIC EPILEPSY; MAE | Sequencing of all coding exons of the gene | 1.872 | ||
| SLC6A20 | Iminoglycinuria | Sequencing of all coding exons of the gene | 1.812 | ||
| SLC6A20 | Hyperglycinuria | Sequencing of all coding exons of the gene | 1.812 | ||
| 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 | Polyposis, juvenile intestinal | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.740 | |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.740 | |
| SMAD4 | Myhre syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.740 | |
| 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 | 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 | 480 | |
| SNORD118 | Leukencephalopathy with brain calcification and cyst | Sequencing of all coding exons of the gene | 0 | ||
| SOX10 | Waardenburg Syndrome Type 4C | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.617 | |
| SOX10 | Waardenburg Syndrome Type 2E | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.617 | |
| SOX3 | Panhypopituitarism, X-linked | Sequencing of all coding exons of the gene | 1.341 | ||
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency | Sequencing of all coding exons of the gene | 1.341 | ||
| SPAST | Spastic Paraplegia 4 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.956 | ||
| SPATA5 | Epilepsy, hearing loss and mental retardation syndrome | Sequencing of all coding exons of the gene | 2.751 | ||
| SPG11 | Spastic paraplegia 11 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 7.332 | |
| SPG7 | Spastic Paraplegia 7 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.430 | ||
| SPINK1 | Tropical calcific pancreatitis | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 240 | |
| SPINK1 | Pancreatitis, hereditary | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.335 | ||
| SPTAN1 | Epileptic Encephalopathy, Early Infantile, 5 | Sequencing of all coding exons of the gene | 7.521 | ||
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | Sequencing of all coding exons of the gene | 1.542 | ||
| 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 | 1.362 | ||
| ST3GAL3 | Mental retardation, autosomal recessive 12 | Sequencing of all coding exons of the gene | 1.362 | ||
| STAT3 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 2.409 | |
| STAT3 | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | Deletion and duplication analysis | Sequencing of all coding exons of the gene | 2.409 | |
| STING1 | STING-associated vasculopathy, infantile onset | Sequencing of all coding exons of the gene | 1.140 | ||
| STING1 | Chilblain Lupus, familial | Sequencing of all coding exons of the gene | 1.140 | ||
| STK11 | Peutz-Jeghers syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.803 | ||
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.812 | ||
| SUFU | Medulloblastoma, desmoplastic | Sequencing of all coding exons of the gene | 1.455 | ||
| SUFU | Basal cell nevus syndrome | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 2.322 | ||
| TCOF1 | Treacher Collins Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 4.470 | ||
| 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 | 861 | |
| 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 | |
| THRB | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH | Sequencing of all coding exons of the gene | 1.386 | ||
| THRB | THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH | Sequencing of all coding exons of the gene | 1.386 | ||
| THRB | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH | Sequencing of all coding exons of the gene | 1.386 | ||
| TIA1 | Welander distal myopathy | Sequencing of all coding exons of the gene | 1.161 | ||
| TIMM8A | Deafness Optic Atrophy Syndrome | Sequencing of all coding exons of the gene | 294 | ||
| TIMM8A | Deafness-Dystonia-Syndrome Mohr-Tranebjaerg-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 | ||
| TNC | Deafness, autosomal dominant 56 | Sequencing of all coding exons of the gene | 6.606 | ||
| TNFAIP3 | Autoinflammatory syndrome, familial, Behcet-like | Sequencing of all coding exons of the gene | 2.373 | ||
| TNFRSF1A | Periodic fever, familial | Sequencing of hotspots | 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 | Sequencing of all coding exons of the gene | 1.368 | |
| TNNT2 | Cardiomyopathy, dilated | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.107 | |
| TNNT2 | Cardiomyopathy, familial hypertrophic, 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.107 | |
| TNNT2 | Cardiomyopathy, familial restrictive, 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.107 | |
| 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 | 945 | ||
| TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy | Sequencing of all coding exons of the gene | 945 | ||
| TREX1 | Chilblain lupus | Sequencing of all coding exons of the gene | 945 | ||
| TRPM1 | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 4.929 | ||
| TRPS1 | Langer-Giedion Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.885 | ||
| TRPS1 | Trichorhinophalangeal Syndrome Type III | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.885 | ||
| TRPS1 | Trichorhinophalangeal Syndrome Type I | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 3.885 | ||
| TRPV4 | Hereditary motor and sensory Neuropathy Type 2C | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.616 | |
| TRPV4 | Charcot-Marie-Tooth 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 | 5.514 | |
| TSEN54 | Pontocerebellar Hypoplasia Type 2A | Sequencing of hotspots | Sequencing of all coding exons of the gene | 1.794 | |
| TSHB | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 | Sequencing of all coding exons of the gene | 417 | ||
| TSHR | Hypothyroidism, congenital, nongoitrous, 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.295 | |
| 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 | |
| TSPAN12 | Familial Exudative Vitreoretinopathy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 918 | |
| TTC8 | Bardet Biedl Syndrome | Sequencing of all coding exons of the gene | 1.596 | ||
| TTC8 | Retinitis Pigmentosa | Sequencing of all coding exons of the gene | 1.596 | ||
| 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 | ||
| 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 | 1.488 | ||
| TUBB4A | Leukodystrophy, hypomyelinating, 6 | Sequencing of all coding exons of the gene | 1.488 | ||
| TULP1 | Retinitis Pigmentosa | Sequencing of all coding exons of the gene | 1.629 | ||
| TULP1 | Leber Congenital Amaurosis | Sequencing of all coding exons of the gene | 1.629 | ||
| 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 | |
| TWNK | Progressive external Ophthalmoplegia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.055 | |
| TYR | Albinism, oculocutaneous, type I | 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 | ||
| UGT1A1 | Gilbert Syndrome | Sequencing of hotspots | 1.602 | ||
| 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 | 15.681 | |
| USP8 | Possible association with spastic paraplegia | Sequencing of all coding exons of the gene | 3.357 | ||
| USP8 | Spastic Paraplegia 59 | 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 753 | ||
| VHL | Von Hippel-Lindau Syndrome | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 753 | ||
| 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 | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 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 | 1.347 | ||
| WDR35 | Short-rib thoracic dysplasia 7 with or without polydactyly | Sequencing of all coding exons of the gene | 3.546 | ||
| WDR35 | Cranioectodermal dysplasia 2 | 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 | 2.709 | |
| WHRN | DFNB31 Nonsyndromic Hearing Loss and Deafness | Sequencing of all coding exons of the gene | 2.724 | ||
| WIPF1 | Wiskott-Aldrich Syndrome | Sequencing of all coding exons of the gene | 1.533 | ||
| WNT4 | SERKAL syndrome | Sequencing of all coding exons of the gene | 1.056 | ||
| WNT4 | Mullerian aplasia and hyperandrogenism | 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 | 7.665 | ||
| ZIC1 | Craniosynostosis 6 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.344 | |
| ZIC2 | Holoprosencephaly | Deletion and duplication analysis;Sequencing of all coding exons of the gene | 1.599 | ||
| ZIC4 | Dany Walker Malformation | Sequencing of all coding exons of the gene | 1.155 |
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