Einzelgen- und Segregationsanalyse
Zur fokussierten Untersuchung einzelner Gene oder familiärer Varianten
CeGaT bietet, mit mehr als 700 verschiedenen Einzelgen-Sequenzanalysen, eine sehr umfassende Labordiagnostik an. Weiterhin führen wir für viele dieser Gene (> 350) Untersuchungen auf Deletionen und Duplikationen mittels MLPA oder quantitativer PCR durch.
Da immer mehr Erkrankungen molekulargenetisch diagnostizierbar sind, erweitern wir das Spektrum unserer Diagnostiken ständig. Wir sind gern bereit, für Sie neue Untersuchungen zu etablieren.
Sie sind in Deutschland versichert? Unsere Kolleginnen und Kollegen vom Zentrum für Humangenetik Tübingen beraten Sie gerne!
Was wir Ihnen mit der Einzelgen-Diagnostik bieten
Umfangreiche Diagnostik
> 700 verschiedene Einzelgen-Sequenzanalysen
Deletionen & Duplikationen
Mittels MLPA oder quantitativer PCR in > 350 Genen
Hohe
Flexibilität
Wir sind gern bereit, für Sie neue Untersuchungen zu etablieren
Medizinischer
Befund
Erstellt von unserem interdisziplinären Expertenteam
Unser Versprechen an Sie
Schnelle Bearbeitung
< Vier Wochen nach Probeneingang
Sicherheit
Höchste Vertraulichkeit und Qualitätsstandards
Zuverlässigkeit
Rundum Betreuung bei jedem Schritt
Verständlichkeit
Verständlich und übersichtlich aufbereiteter medizinischer Befund
Unsere Methoden
Sanger-Sequenzierung
Die direkte Sequenzanalyse mittels Kettenabbruch nach Sanger gehört zu den Standardmethoden in der molekulargenetischen Diagnostik. Diese Methode ist besonders sinnvoll bei der Analyse kleinerer Gene oder Genbereiche wie z. B. Hot-Spot-Mutationen und wird daher vorwiegend bei der Einzelgen-Diagnostik verwendet. Die Analyse erfolgt bei uns durch das 96-Kapillar-Sequenziergerät 3730xl DNA Analyzer von Applied Biosystems.
Deletions- und Duplikationsanalyse
Zur Detektion von Deletionen oder Duplikationen werden entweder MLPA oder quantitative real-time PCR-Analysen durchgeführt. Für MLPAs werden die Kits von MRC HOLLAND verwendet. Für die quantitative Real-Time PCR wird das QuantStudio™ 112K Flex Real-Time-PCR-System von Applied Biosystems verwendet.
Fragmentlängenanalyse
Eine weitere Methode, die bei uns Anwendung findet, ist die Fragmentlängenanalyse mittels Kapillarelektrophorese. Diese wird z. B. bei Triplett-Repeat-Erkrankungen durchgeführt. Der Bereich der zu untersuchenden Genregion wird mit speziellen Primern amplifiziert, wobei durch die entstehende Fragmentlänge der PCR-Produkte die Anzahl der Triplett-Repeats bestimmt werden kann. Die Analyse der Fragmentlänge wird bei uns mit Hilfe des 96-Kapillar-Sequenziergeräts 3730xl DNA Analyzer von Applied Biosystems durchgeführt.
Beispielbefund
Allgemeine Informationen
Material
- 1-2 ml EDTA-Blut (empfohlene Probenart), oder
- 1-2 µg genomische DNA
- CeGaT-Einsendeformular inkl. schriftliche Einverständniserklärung nach GenDG
Hier finden Sie weitere Informationen zum sicheren Versand Ihrer Probe.
Dauer
- Dauer der Untersuchung: weniger als vier Wochen
Kosten
Bei der Einzelgenanalyse spielt außerdem die Größe bzw. die Anzahl der Exons des gewünschten Gens eine Rolle. Neben der Sequenzierung und der bioinformatischen Analyse ist auch die Erstellung eines medizinischen Befundes durch unser Expertenteam, bestehend aus Humangenetikerinnen und Humangenetikern sowie Diagnostikerinnen und Diagnostikern, im Preis enthalten.
Diagnostikablauf
Beratung & Auswahl des Tests
Probenentnahme & Probenversand
Analyse der Probe
Befundübermittlung & Beratung
Genverzeichnis
| Gen | Krankheit | Stufe 1 | Stufe 2 | Stufe 3 | Kilobasen |
|---|---|---|---|---|---|
| 15q11-13 | Angelman Syndrome | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 26.700.000 | ||
| 15q11-13 | Prader-Willi Syndrome | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 26.700.000 | ||
| AAAS | Achalasia-addisonianism-alacrimia syndrome | Sequenzierung aller kodierender Exons des Gens | 1.641 | ||
| ABCA3 | Surfactant metabolism dysfunction, pulmonary, 3 | Sequenzierung aller kodierender Exons des Gens | 5.115 | ||
| ABCA3 | Pulmonary surfactant metabolism dysfunction type 3 (ABCA3 deficiency) | Sequenzierung aller kodierender Exons des Gens | 5.115 | ||
| ABCA4 | Age-Dependent Macula Degeneration | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.822 | |
| ABCA4 | Autosomal Recessive Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.822 | |
| ABCA4 | Stargardt Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.822 | |
| ABCA4 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.822 | |
| ABCB4 | Cholestasis, intrahepatic, of pregnancy, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.861 | |
| ABCB4 | Gallbladder disease 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.861 | |
| ABCB4 | Cholestasis, progressive familial intrahepatic 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.861 | |
| ABCD1 | Adrenoleukodystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.238 | |
| ABHD12 | Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa and Cataract | Sequenzierung aller kodierender Exons des Gens | 1.215 | ||
| ABHD5 | Chanarin-Dorfman syndrome | Sequenzierung aller kodierender Exons des Gens | 1.050 | ||
| ACADS | Short Chain Acyl-CoA Dehydrogenase Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.239 | ||
| ACTA1 | Congenital Fiber-Type Disproportion Myopathy | Sequenzierung aller kodierender Exons des Gens | 1.134 | ||
| ACTA1 | Nemaline Myopathy | Sequenzierung aller kodierender Exons des Gens | 1.134 | ||
| ACTG2 | Visceral myopathy | Sequenzierung aller kodierender Exons des Gens | 1.131 | ||
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.512 | |
| ADAR | Dyschromatosis symmetrica hereditaria | Sequenzierung aller kodierender Exons des Gens | 3.681 | ||
| ADAR | Aicardi-Goutieres syndrome 6 | Sequenzierung aller kodierender Exons des Gens | 3.681 | ||
| ADCY5 | Dyskinesia, familial, with facial myokymia | Sequenzierung aller kodierender Exons des Gens | 3.786 | ||
| ADSL | Adenylosuccinate Lyase Deficiency | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.455 | |
| AGA | Aspartylglycosaminuria | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | |
| AGL | Glycogen Storage Disease Type III | Sequenzierung aller kodierender Exons des Gens | 4.599 | ||
| AGXT | Hyperoxaluria, Primary, Type 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.179 | ||
| AHI1 | Joubert Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.591 | ||
| AIPL1 | Retinitis pigmentosa, juvenile | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.155 | |
| AIPL1 | Leber congenital amaurosis 4 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.155 | |
| AIPL1 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.155 | |
| AKT3 | Hemimegalencephaly | Sequenzierung aller kodierender Exons des Gens | 1.440 | ||
| ALDH4A1 | Hyperprolinemia, Type II | Sequenzierung aller kodierender Exons des Gens | 1.692 | ||
| ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | Sequenzierung aller kodierender Exons des Gens | 1.647 | ||
| ALDH7A1 | Pyridoxine-Dependent Epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.620 | ||
| ALDOB | Fructose intolerance | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.095 | |
| ALG12 | CDG-Syndrome 1G | Sequenzierung aller kodierender Exons des Gens | 1.467 | ||
| ALG2 | CDG-Syndrome 1I | Sequenzierung aller kodierender Exons des Gens | 1.251 | ||
| ALG3 | CDG-Syndrome 1D | Sequenzierung aller kodierender Exons des Gens | 1.317 | ||
| ALG6 | CDG-Syndrom 1C | Sequenzierung aller kodierender Exons des Gens | 1.524 | ||
| ALG8 | CDG Syndrome 1H | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.581 | |
| ALG9 | CDG-Syndrome 1L | Sequenzierung aller kodierender Exons des Gens | 1.857 | ||
| ALMS1 | Alstrom Syndrome | Sequenzierung aller kodierender Exons des Gens | 12.504 | ||
| ALPL | Odontohypophosphatasia | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| ALPL | Hypophosphatasia, infantile | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| ALPL | Hypophosphatasia, adult | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| ALPL | Hypophosphatasia, childhood | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| ALS2 | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 4.974 | ||
| AMACR | Alpha-Methylacyl-CoA Racemase Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.185 | ||
| AMPD1 | Myoadenylate Deaminase Deficiency | Sequenzierung aller kodierender Exons des Gens | 2.343 | ||
| AMT | Glycine Encephalopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.212 | |
| ANG | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 444 | ||
| ANO10 | Spinocerebellar Ataxia, autosomal-recessive 10, SCAR10 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.983 | |
| ANO3 | Dystonia 24 | Sequenzierung aller kodierender Exons des Gens | 2.946 | ||
| AP2S1 | Hypocalciuric hypercalcemia, familial, type III | Sequenzierung aller kodierender Exons des Gens | 429 | ||
| APOA1 | Amyloidosis, 3 or more types | Sequenzierung aller kodierender Exons des Gens | 804 | ||
| APOA1 | ApoA-I deficiency | Sequenzierung aller kodierender Exons des Gens | 804 | ||
| APOA1 | Amyloidosis | Sequenzierung aller kodierender Exons des Gens | 804 | ||
| APOA2 | Apolipoprotein A-II deficiency | Sequenzierung aller kodierender Exons des Gens | 303 | ||
| APOA5 | Hyperchylomicronemia, late-onset | Sequenzierung aller kodierender Exons des Gens | 1.101 | ||
| APP | Alzheimer Dementia | Sequenzierung Hotspots [Exon 16,Exon 17];Deletions-/Duplikationsanalyse (MLPA / qPCR) | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.313 | |
| APTX | Ataxia with Oculomotor Apraxia 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.029 | |
| AR | Androgen Insensitivity Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Fragmentlängenanalyse | 2.763 |
| AR | Spinal and Bulbar Muscular Atrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Fragmentlängenanalyse | 2.763 |
| ARFGEF2 | Periventricular nodular Heterotopia | Sequenzierung aller kodierender Exons des Gens | 5.358 | ||
| ARHGEF9 | Hyperekplexia | Sequenzierung aller kodierender Exons des Gens | 1.551 | ||
| ARSA | Metachromatic Leukodystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.530 | |
| ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.602 | |
| ARSI | Spastic Paraplegia Type 66 | Sequenzierung aller kodierender Exons des Gens | 1.710 | ||
| ARX | Agenesis of Corpus Callosum with Abnormal Genitalia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.689 | |
| ARX | Partington X-Linked Mental Retardation Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.689 | |
| ARX | West-Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.689 | |
| ARX | X-Linked Lissencephaly with Ambiguous Genitalia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.689 | |
| ARX | X-Linked Lissencephaly with Ambiguous Genitalia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.689 | |
| ASAH1 | Farber lipogranulomatosis | Sequenzierung aller kodierender Exons des Gens | 1.236 | ||
| ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.236 | ||
| ASPM | Primary Autosomal Recessive Microcephaly Type 5 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 10.434 | |
| ASXL1 | Bohring-Opitz Syndrome | Sequenzierung aller kodierender Exons des Gens | 4.626 | ||
| ATF6 | Achromatopsia 7 | Sequenzierung aller kodierender Exons des Gens | 2.013 | ||
| ATL1 | Neuropathy, hereditary sensory, type ID | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.677 | |
| ATL1 | Spastic paraplegia 3A, autosomal dominant | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.677 | |
| ATM | Ataxia Teleangiectatica (AT) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 9.171 | |
| ATP13A2 | Kufor-Rakeb Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.543 | |
| ATP1A2 | Familial hemiplegic Migraine Type 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.063 | |
| ATP1A3 | Rapid Onset Dystonia with Parkinsonism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.081 | |
| ATP2A1 | Brody myopathy | Sequenzierung aller kodierender Exons des Gens | 3.006 | ||
| ATP2A2 | Darier-White Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.129 | |
| ATP2C1 | Hailey-Hailey disease | Sequenzierung aller kodierender Exons des Gens | 2.922 | ||
| ATP6AP2 | Mental retardation, X-linked, with epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.053 | ||
| ATP6V0A4 | Renal tubular acidosis, distal, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 2.523 | ||
| ATP6V1B1 | Renal tubular acidosis with deafness | Sequenzierung aller kodierender Exons des Gens | 1.542 | ||
| ATP7A | ATP7A-Related Copper Transport Disorders | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.503 | ||
| ATP7A | Menkes Disease | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.503 | ||
| ATP7B | Wilson Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.398 | |
| ATP8A2 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | Sequenzierung aller kodierender Exons des Gens | 3.567 | ||
| ATP8B1 | Cholestasis, intrahepatic, of pregnancy, 1 | Sequenzierung aller kodierender Exons des Gens | 3.756 | ||
| ATP8B1 | Cholestasis, benign recurrent intrahepatic | Sequenzierung aller kodierender Exons des Gens | 3.756 | ||
| ATP8B1 | Cholestasis, progressive familial intrahepatic 1 | Sequenzierung aller kodierender Exons des Gens | 3.756 | ||
| ATRX | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 7.479 | |
| ATXN1 | Spinocerebellar Ataxia 1 | Repeat-Expansions-Analyse | 2.448 | ||
| ATXN2 | Spinocerebellar Ataxia 2 | Repeat-Expansions-Analyse | 3.942 | ||
| ATXN3 | Machado-Joseph Disease | Repeat-Expansions-Analyse | 1.086 | ||
| ATXN7 | Spinocerebellar Ataxia 7 | Repeat-Expansions-Analyse | 2.838 | ||
| B9D1 | Meckel Syndrome | Sequenzierung aller kodierender Exons des Gens | 774 | ||
| B9D2 | Meckel Syndrome | Sequenzierung aller kodierender Exons des Gens | 528 | ||
| BBS1 | Bardet-Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| BBS1 | Bardet-Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| BBS2 | Bardet Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.166 | ||
| BBS2 | Bardet Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.166 | ||
| BCKDHA | Maple Syrup Urine Disease Type 1A | Sequenzierung aller kodierender Exons des Gens | 1.338 | ||
| BCKDHB | Maple Syrup Urine Disease | Sequenzierung aller kodierender Exons des Gens | 1.179 | ||
| BEST1 | Autosomal Dominant Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.815 | |
| BEST1 | Autosomal Recessive Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.815 | |
| BFSP2 | Cataract, autosomal dominant | Sequenzierung aller kodierender Exons des Gens | 1.248 | ||
| BICD2 | Spinal muscular atrophy | Sequenzierung aller kodierender Exons des Gens | 2.568 | ||
| BSCL2 | Neuropathy, distal hereditary motor, type V | Sequenzierung aller kodierender Exons des Gens | 1.389 | ||
| BSCL2 | Lipodystrophy, congenital generalized, type 2 | Sequenzierung aller kodierender Exons des Gens | 1.389 | ||
| BSCL2 | Silver spastic paraplegia syndrome | Sequenzierung aller kodierender Exons des Gens | 1.389 | ||
| BTD | Biotinidase deficiency | Sequenzierung aller kodierender Exons des Gens | 1.638 | ||
| C10orf11 | Albinism, oculocutaneous, type VII | Sequenzierung aller kodierender Exons des Gens | 597 | ||
| C12orf65 | Combined Oxidative Phosphorylation Deficiency 7 | Sequenzierung aller kodierender Exons des Gens | 501 | ||
| C1QTNF5 | Late-Onset Retinal Degeneration | Sequenzierung aller kodierender Exons des Gens | 732 | ||
| C9orf72 | Cardiac Diseases | Repeat-Expansions-Analyse | 1.446 | ||
| CABP4 | Congenital Stationary Night-Blindness | Sequenzierung aller kodierender Exons des Gens | 828 | ||
| CACNA1A | Episodic Ataxia - Type 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Repeat-Expansions-Analyse | 7.521 |
| CACNA1A | Familial hemiplegic Migraine Type 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Repeat-Expansions-Analyse | 7.521 |
| CACNA1A | Paroxysmal Familial Ataxia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Repeat-Expansions-Analyse | 7.521 |
| CACNA1A | Spinocerebellar Ataxia Type 6 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Repeat-Expansions-Analyse | 7.521 |
| CACNA1B | Dystonia 23 | Sequenzierung aller kodierender Exons des Gens | 7.020 | ||
| CACNA1F | Congenital Stationary Night-Blindness | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| CACNA1F | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| CACNA1H | Epilepsy, childhood absence, susceptibility to, 6 | Sequenzierung aller kodierender Exons des Gens | 7.062 | ||
| CACNA1H | Childhood absence Epilepsy | Sequenzierung aller kodierender Exons des Gens | 7.062 | ||
| CACNB4 | Episodic Ataxia - Type 2 | Sequenzierung aller kodierender Exons des Gens | 1.563 | ||
| CACNB4 | Idiopathic generalised Epilepsy (IGE) | Sequenzierung aller kodierender Exons des Gens | 1.563 | ||
| CACNB4 | Juvenile Myoclonus Epilepsy (JME) | Sequenzierung aller kodierender Exons des Gens | 1.563 | ||
| CAPN3 | Limb-Girdle Muscular Dystrophies, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.466 | |
| CASK | FG-Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.766 | ||
| CASK | CASK-Related X-Linked Mental Retardation | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.766 | ||
| CASR | Autosomal Dominant Hypocalcemia | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.267 | ||
| CASR | Familial hypocalciuric Hypercalcemia, Type 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.267 | ||
| CASR | Neonatal Severe Primary Hyperparathyroidism | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.267 | ||
| CCDC65 | Ciliary dyskinesia, primary, 27 | Sequenzierung aller kodierender Exons des Gens | 1.455 | ||
| CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Sequenzierung aller kodierender Exons des Gens | 870 | ||
| CD96 | C syndrome | Sequenzierung aller kodierender Exons des Gens | 1.758 | ||
| CDHR1 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 2.580 | ||
| CDHR1 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | 2.580 | ||
| CDK5RAP2 | Primary Autosomal Recessive Microcephaly Type 3 | Sequenzierung aller kodierender Exons des Gens | 5.682 | ||
| CDKL5 | Rett Syndrome, Congenital Variant | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.093 | ||
| CDKL5 | Epileptic Encephalopathy, Early Infantile, 2 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.093 | ||
| CDKL5 | West-Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.093 | ||
| CDON | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | 3.864 | ||
| CEP63 | Seckel Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.112 | ||
| CFH | Age-Dependent Macula Degeneration | Sequenzierung aller kodierender Exons des Gens | 3.696 | ||
| CFH | Basal Laminar Drusen | Sequenzierung aller kodierender Exons des Gens | 3.696 | ||
| CFH | Atypical Hemolytic-Uremic Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.696 | ||
| CFTR | Congenital bilateral absence of vas deferens | Sequenzierung Hotspots [5T/7T-Allel,50 Mutationen Elucigene Kit] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.443 |
| CFTR | Cystic fibrosis | Sequenzierung Hotspots [5T/7T-Allel,50 Mutationen Elucigene Kit] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.443 |
| CHCHD10 | Spinal muscular atrophy, Jokela type | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 450 | |
| CHCHD10 | Myopathy, isolated mitochondrial, autosomal dominant | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 450 | |
| CHCHD10 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 450 | |
| CHD2 | Epileptic encephalopathy, childhood-onset | Sequenzierung aller kodierender Exons des Gens | 5.487 | ||
| CHD7 | Hypogonadotropic hypogonadism 5 with or without anosmia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.994 | |
| CHD7 | CHARGE Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.994 | |
| CHD7 | CHARGE Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.994 | |
| CHD7 | Hypogonadotropic hypogonadism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.994 | |
| CHKB | Congenital Muscular Dystrophy | Sequenzierung aller kodierender Exons des Gens | 1.188 | ||
| CHM | Choroidal Sclerosis | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.962 | ||
| CHMP2B | Frontotemporal Dementia | Sequenzierung aller kodierender Exons des Gens | 642 | ||
| CHN1 | Duane Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.380 | ||
| CHRNA1 | Multiple pterygium syndrome, lethal type | Sequenzierung aller kodierender Exons des Gens | 1.449 | ||
| CHRNA1 | Myasthenic Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.449 | ||
| CHRNA2 | Nocturnal frontal lobe Epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.590 | ||
| CHRNA4 | Nocturnal frontal lobe Epilepsy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.884 | |
| CHRNB1 | Congenital Myasthenic Syndromes | Sequenzierung aller kodierender Exons des Gens | 1.506 | ||
| CHRNB2 | Nocturnal frontal lobe Epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.509 | ||
| CHRNB3 | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 1.377 | ||
| CHRND | Multiple pterygium syndrome, lethal type | Sequenzierung aller kodierender Exons des Gens | 1.554 | ||
| CHRND | Myasthenic Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.554 | ||
| CIZ1 | Dystonia 23 | Sequenzierung aller kodierender Exons des Gens | 2.697 | ||
| CLCN1 | Myotonia Congenita | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.967 | |
| CLCN5 | Hypophosphatemic rickets | Sequenzierung aller kodierender Exons des Gens | 2.451 | ||
| CLCN5 | Dent disease | Sequenzierung aller kodierender Exons des Gens | 2.451 | ||
| CLCN5 | Nephrolithiasis, type I | Sequenzierung aller kodierender Exons des Gens | 2.451 | ||
| CLCN5 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | Sequenzierung aller kodierender Exons des Gens | 2.451 | ||
| CLN3 | Neuronal Ceroid-Lipofuscinosis | Sequenzierung aller kodierender Exons des Gens | 1.317 | ||
| CLN5 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | 1.224 | ||
| CLN6 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | 936 | ||
| CLN8 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | 861 | ||
| CLRN1 | Usher Syndrome Type 3 | Sequenzierung aller kodierender Exons des Gens | 738 | ||
| CNGA3 | Achromatopsia | Sequenzierung aller kodierender Exons des Gens | 2.085 | ||
| CNGB1 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 3.756 | ||
| CNGB3 | Achromatopsia | Sequenzierung Hotspots [Exon 10,c.1148delC] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.430 |
| CNGB3 | Stargardt Disease | Sequenzierung Hotspots [Exon 10,c.1148delC] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.430 |
| CNTNAP2 | Pitt-Hopkins-Like Syndrome 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.996 | ||
| COASY | Neurodegeneration with brain iron accumulation 6 | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| COASY | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| COG6 | Congenital disorder of glycosylation, type IIl | Sequenzierung aller kodierender Exons des Gens | 1.974 | ||
| COG7 | Congenital disorder of glycosylation, type IIe | Sequenzierung aller kodierender Exons des Gens | 2.313 | ||
| COL10A1 | Metaphyseal Chondrodysplasia, Schmid Type | Sequenzierung aller kodierender Exons des Gens | 2.043 | ||
| COL18A1 | Knobloch Syndrome Type I | Sequenzierung aller kodierender Exons des Gens | 4.560 | ||
| COL2A1 | Kniest Dysplasia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.464 | |
| COL2A1 | Stickler Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.464 | |
| COL4A1 | Retinal arteries, tortuosity of | Sequenzierung aller kodierender Exons des Gens | 5.010 | ||
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | Sequenzierung aller kodierender Exons des Gens | 5.010 | ||
| COL4A1 | Brain small vessel disease with or without ocular anomalies | Sequenzierung aller kodierender Exons des Gens | 5.010 | ||
| COL4A1 | Porencephaly 1 | Sequenzierung aller kodierender Exons des Gens | 5.010 | ||
| COL4A3 | Alport syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.013 | |
| COL4A3 | Hematuria, benign familial | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.013 | |
| COL6A3 | Dystonia 27 | Sequenzierung aller kodierender Exons des Gens | 9.534 | ||
| COL6A3 | Bethlem myopathy 1 | Sequenzierung aller kodierender Exons des Gens | 9.534 | ||
| COL6A3 | Ullrich congenital muscular dystrophy 1 | Sequenzierung aller kodierender Exons des Gens | 9.534 | ||
| COL9A1 | Multiple epiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.766 | |
| COL9A1 | Stickler Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.766 | |
| COL9A2 | Multiple epiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | 2.070 | ||
| COL9A3 | Multiple epiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | 2.055 | ||
| COLEC11 | 3MC syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 858 | ||
| COMP | Multiple epiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | 2.274 | ||
| COMP | Pseudoachondroplasia | Sequenzierung aller kodierender Exons des Gens | 2.274 | ||
| COPA | Autoimmune Interstitial Lung, Joint and Kidney Disease | Sequenzierung aller kodierender Exons des Gens | 3.702 | ||
| COQ8A | Coenzyme Q10 Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.944 | ||
| COQ9 | Coenzyme Q10 Deficiency | Sequenzierung aller kodierender Exons des Gens | 957 | ||
| CP | Aceruloplasminemia | Sequenzierung aller kodierender Exons des Gens | 3.198 | ||
| CPA1 | Hereditary pancreatitis (Carboxypeptidase A1; CPA1 gene) | Sequenzierung aller kodierender Exons des Gens | 1.260 | ||
| CPT2 | Carnitine Palmitoyltransferase II Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.977 | ||
| CRB1 | Leber Congenital Amaurosis 8 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.221 | |
| CRB1 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.221 | |
| CRX | Leber Congenital Amaurosis 7 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 900 | ||
| CRX | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 900 | ||
| CSF1R | Leukoencephalopathy with spheroids | Sequenzierung Hotspots [Exons 12-22] | Sequenzierung aller kodierender Exons des Gens | 2.919 | |
| CSF2RA | Pulmonary surfactant metabolism dysfunction type 4 (mutation in the GMCSF receptor α chain; CSF2RA gene) | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.610 | ||
| CSTB | Progressive Myoclonus Epilepsy with Ataxia | Repeat-Expansions-Analyse | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 297 |
| CTRC | Pancreatitis, chronic, susceptibility to | Sequenzierung aller kodierender Exons des Gens | 807 | ||
| CTSD | Neuronal Ceroid-Llipofuscinosis | Sequenzierung aller kodierender Exons des Gens | 1.239 | ||
| CTSF | Neuronal Ceroid-Lipofuscinosis | Sequenzierung aller kodierender Exons des Gens | 1.455 | ||
| CYP19A1 | Aromatase excess syndrome | Sequenzierung aller kodierender Exons des Gens | 1.512 | ||
| CYP19A1 | Aromatase deficiency | Sequenzierung aller kodierender Exons des Gens | 1.512 | ||
| CYP27A1 | Cerebrotendinous Xanthomatosis | Sequenzierung aller kodierender Exons des Gens | 1.596 | ||
| DARS | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | Sequenzierung aller kodierender Exons des Gens | 1.506 | ||
| DARS2 | Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung | Sequenzierung aller kodierender Exons des Gens | 1.938 | ||
| DBT | Maple Syrup Urine Disease | Sequenzierung aller kodierender Exons des Gens | 1.449 | ||
| DCC | Mirror movements 1 | Sequenzierung aller kodierender Exons des Gens | 4.344 | ||
| DCTN1 | Perry Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.837 | ||
| DCX | DCX-Related Disorders | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.326 | |
| DCX | DCX-Related Disorders | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.326 | |
| DES | Muscular dystrophy, limb-girdle, type 2R | Sequenzierung aller kodierender Exons des Gens | 1.413 | ||
| DES | Scapuloperoneal syndrome, neurogenic, Kaeser type | Sequenzierung aller kodierender Exons des Gens | 1.413 | ||
| DES | Myopathy, myofibrillar, 1 | Sequenzierung aller kodierender Exons des Gens | 1.413 | ||
| DES | Cardiomyopathy, dilated, 1I | Sequenzierung aller kodierender Exons des Gens | 1.413 | ||
| DFNB31 | DFNB31 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | 2.724 | ||
| DGKE | Nephrotic Syndrome Type 7 | Sequenzierung aller kodierender Exons des Gens | 1.704 | ||
| DHTKD1 | 2-alpha Aminoadipic 2-Oxoadipic Aciduria | Sequenzierung aller kodierender Exons des Gens | 2.760 | ||
| DLD | Maple Syrup Urine Disease | Sequenzierung aller kodierender Exons des Gens | 1.530 | ||
| DLD | Leigh Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.530 | ||
| DLD | Dihydrolipoamide Dehydrogenase (E3) Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.530 | ||
| DMD | Dilated Cardiomyopathy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 11.058 | ||
| DMD | Becker muscular dystrophy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 11.058 | ||
| DMD | Duchenne muscular dystrophy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 11.058 | ||
| DMP1 | Hypophosphatemic rickets, AR | Sequenzierung aller kodierender Exons des Gens | 1.542 | ||
| DNAI1 | Ciliary dyskinesia, primary, 1, with or without situs inversus | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.100 | |
| DNAJC5 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | 597 | ||
| DOK7 | Myasthenic Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.515 | ||
| DPAGT1 | Congenital disorder of glycosylation, type Ij | Sequenzierung aller kodierender Exons des Gens | 1.227 | ||
| DRD2 | Myclonus Dystonia | Sequenzierung aller kodierender Exons des Gens | 1.332 | ||
| DUOX2 | Thryoid dyshormonogenesis 6 | Sequenzierung aller kodierender Exons des Gens | 4.647 | ||
| DUOXA2 | Thyroid dyshormonogenesis 5 | Sequenzierung aller kodierender Exons des Gens | 963 | ||
| DYSF | Muscular dystrophy, limb-girdle, type 2B | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.360 | |
| DYX1C1 | Ciliary dyskinesia, primary, 25 | Sequenzierung aller kodierender Exons des Gens | 1.263 | ||
| ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | Sequenzierung aller kodierender Exons des Gens | 873 | ||
| EFEMP1 | Doyne Honeycomb Retinal Dystrophy | Sequenzierung aller kodierender Exons des Gens | 1.482 | ||
| EFHC1 | Myoclonic epilepsy, juvenile, susceptibility to, 1 | Sequenzierung aller kodierender Exons des Gens | 1.923 | ||
| EFHC1 | Juvenile Myoclonus Epilepsy (JME) | Sequenzierung aller kodierender Exons des Gens | 1.923 | ||
| EFNB1 | Craniofrontonasal Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | ||
| EGF | Hypomagnesemia 4, renal | Sequenzierung aller kodierender Exons des Gens | 3.624 | ||
| EGR2 | Charcot-Marie-Tooth Neuropathy Type 1D | Sequenzierung aller kodierender Exons des Gens | 1.431 | ||
| EGR2 | Charcot-Marie-Tooth Neuropathy Type 4E | Sequenzierung aller kodierender Exons des Gens | 1.431 | ||
| ELANE | Neutropenia, severe congenital 1, autosomal dominant | Sequenzierung Hotspots [Exon 2,Exon 6] | Sequenzierung aller kodierender Exons des Gens | 804 | |
| ELANE | Neutropenia, cyclic | Sequenzierung Hotspots [Exon 2,Exon 6] | Sequenzierung aller kodierender Exons des Gens | 804 | |
| ELOVL4 | Stargardt Disease | Sequenzierung aller kodierender Exons des Gens | 945 | ||
| EMX2 | Schizencephaly | Sequenzierung aller kodierender Exons des Gens | 759 | ||
| ENG | Telangiectasia, hereditary hemorrhagic, type 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.977 | |
| EOMES | Microcephaly Syndrome | Sequenzierung aller kodierender Exons des Gens | |||
| EP300 | Rubinstein-Taybi syndrome 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 7.245 | |
| EPM2A | Lafora Disease | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 996 | ||
| ERCC1 | Xeroderma Pigmentosum | Sequenzierung aller kodierender Exons des Gens | 972 | ||
| ERCC2 | Xeroderma Pigmentosum | Sequenzierung aller kodierender Exons des Gens | 2.283 | ||
| ERCC4 | Xeroderma Pigmentosum | Sequenzierung aller kodierender Exons des Gens | 2.751 | ||
| ERCC5 | Xeroderma Pigmentosum | Sequenzierung aller kodierender Exons des Gens | 3.561 | ||
| ERCC6 | Age-Dependent Macula Degeneration | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.482 | |
| ERCC6 | Cockayne Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.482 | |
| ERCC8 | Cockayne Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.191 | ||
| ETFA | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.002 | ||
| ETFB | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| ETFDH | Multiple Acyl-CoA Dehydrogenase Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.854 | ||
| ETHE1 | Ethylmalonic encephalopathy | Sequenzierung aller kodierender Exons des Gens | 765 | ||
| EXOSC3 | Pontocerebellar Hypoplasia, Type 1B | Sequenzierung aller kodierender Exons des Gens | 828 | ||
| EXT1 | Multiple Exostoses | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.241 | |
| EXT2 | Multiple Exostoses | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.256 | |
| F12 | Factor XII deficiency | Sequenzierung aller kodierender Exons des Gens | 1.848 | ||
| F12 | Angioedema, hereditary, type III | Sequenzierung aller kodierender Exons des Gens | 1.848 | ||
| F12 | Hereditary angioedema type III (mutation in exon 9 of the F12 gene) | Sequenzierung aller kodierender Exons des Gens | 1.848 | ||
| F2 | Prothrombin mutation | Sequenzierung Hotspots [Exon 14,20210G>A] | Sequenzierung aller kodierender Exons des Gens | 1.869 | |
| F5 | Factor V Leiden mutation / APC resistance | Sequenzierung Hotspots [Exon 10,FV-Leiden-Mutation] | Sequenzierung aller kodierender Exons des Gens | 6.675 | |
| FA2H | Fatty Acid Hydroxylase-Associated Neurodegeneration | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.119 | |
| FA2H | Spastic Paraplegia 35 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.119 | |
| FAH | Tyrosinemia | Sequenzierung aller kodierender Exons des Gens | 1.260 | ||
| FAM58A | STAR syndrome | Sequenzierung aller kodierender Exons des Gens | 745 | ||
| FAS | Autoimmune lymphoproliferative syndrome, type IA | Sequenzierung aller kodierender Exons des Gens | 1.008 | ||
| FAS | Squamous cell carcinoma, burn scar-related, somatic | Sequenzierung aller kodierender Exons des Gens | 1.008 | ||
| FGA | Hereditary amyloidosis (FGA and TTR gene) | Sequenzierung Hotspots [Exon 5] | 2.601 | ||
| FGD1 | Mental retardation, X-linked syndromic 16 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.886 | |
| FGD1 | Aarskog-Scott syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.886 | |
| FGF14 | Spinocerebellar ataxia 27 | Sequenzierung aller kodierender Exons des Gens | 759 | ||
| FGF23 | Tumoral calcinosis, hyperphosphatemic, familial | Sequenzierung aller kodierender Exons des Gens | 756 | ||
| FGF23 | Osteomalacia, tumor-induced | Sequenzierung aller kodierender Exons des Gens | 756 | ||
| FGF23 | Hypophosphatemic rickets, autosomal dominant | Sequenzierung aller kodierender Exons des Gens | 756 | ||
| FGF8 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 735 | |
| FGF8 | Hypogonadotropic hypogonadism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 735 | |
| FGFR2 | Scaphocephaly, maxillary retrusion, and mental retardation | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Apert syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Beare-Stevenson cutis gyrata syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Bent bone dysplasia syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Craniofacial-skeletal-dermatologic dysplasia | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Craniosynostosis, nonspecific | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Jackson-Weiss syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | LADD syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Pfeiffer syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Scaphocephaly and Axenfeld-Rieger anomaly | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Crouzon Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR2 | Saethre-Chotzen Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.469 | ||
| FGFR3 | Achondroplasia | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Crouzon Syndrome | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Crouzon Syndrome with Acanthosis Nigricans | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Hypochondroplasia | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Lacrimo-Auriculo-Dento-Digital Syndrome | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Muenke Syndrome | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | Saddan Syndrome | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | THANATOPHORIC DYSPLASIA, TYPE II; TD2 | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FGFR3 | THANATOPHORIC DYSPLASIA, TYPE I; TD1 | Sequenzierung Hotspots [pPro250Arg,pGly380Arg,pAla391Glu,pAsn540Lys,pLys650Thr,pLys650Thr,pArg621His,Exon7, Exon10, Exon15, Exon19,pAsp513Asn] | Sequenzierung aller kodierender Exons des Gens | 2.427 | |
| FLNA | Periventricular nodular Heterotopia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 7.944 | |
| FLT4 | Lymphedema, hereditary, IA | Sequenzierung aller kodierender Exons des Gens | 4.092 | ||
| FLT4 | Hemangioma, capillary infantile, somatic | Sequenzierung aller kodierender Exons des Gens | 4.092 | ||
| FLT4 | Hereditary lymphedema type IA (mutation in exons 17-25 of the FTL4 gene) | Sequenzierung aller kodierender Exons des Gens | 4.092 | ||
| FLVCR1 | Posterior Column Ataxia with Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 1.668 | ||
| FLVCR2 | Fowler Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.581 | ||
| FOLR1 | Neurodegeneration due to Cerebral Folate Transport Deficiency | Sequenzierung aller kodierender Exons des Gens | 774 | ||
| FOXC1 | Peters Anomaly | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.662 | ||
| FOXC1 | Axenfeld-Rieger Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.662 | ||
| FOXE1 | Bamforth-Lazarus Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.122 | |
| FOXG1 | Rett Syndrome, Congenital Variant | Sequenzierung aller kodierender Exons des Gens | 1.470 | ||
| FRAS1 | FRAS1-Related Fraser Syndrome | Sequenzierung aller kodierender Exons des Gens | 12.039 | ||
| FREM1 | BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR | Sequenzierung aller kodierender Exons des Gens | 6.540 | ||
| FREM1 | MANITOBA OCULOTRICHOANAL SYNDROME; MOTA | Sequenzierung aller kodierender Exons des Gens | 6.540 | ||
| FREM1 | TRIGONOCEPHALY 2; TRIGNO2 | Sequenzierung aller kodierender Exons des Gens | 6.540 | ||
| FSCN2 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 1.551 | ||
| FSHB | Hypogonadotropic hypogonadism 24 without anosmia | Sequenzierung aller kodierender Exons des Gens | 390 | ||
| FTL | Hyperferritinemia-cataract syndrome (mutation in the IRE of the FTL gene) | Sequenzierung aller kodierender Exons des Gens | 528 | ||
| FTL | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | 528 | ||
| FUS | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 1.581 | ||
| FZD4 | Familial Exudative Vitreoretinopathy | Sequenzierung aller kodierender Exons des Gens | 1.614 | ||
| G6PC | Glycogen Storage Disease Type Ia | Sequenzierung aller kodierender Exons des Gens | 1.074 | ||
| G6PC3 | Dursun syndrome | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| G6PC3 | Neutropenia, severe congenital 4, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| GAA | Glycogen storage disease II | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.859 | ||
| GABRA1 | Juvenile Myoclonus Epilepsy (JME) | Sequenzierung aller kodierender Exons des Gens | 1.371 | ||
| GABRB3 | Childhood absence Epilepsy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.422 | |
| GABRD | Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to | Sequenzierung aller kodierender Exons des Gens | 1.359 | ||
| GABRD | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequenzierung aller kodierender Exons des Gens | 1.359 | ||
| GABRD | Juvenile Myoclonus Epilepsy (JME) | Sequenzierung aller kodierender Exons des Gens | 1.359 | ||
| GABRG2 | Childhood absence Epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.548 | ||
| GALC | Krabbe Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.058 | |
| GALNT3 | Tumoral calcinosis | Sequenzierung aller kodierender Exons des Gens | 1.902 | ||
| GAMT | Guanidinoacetate Methyltransferase Deficiency | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 810 | |
| GARS | Charcot-Marie-Tooth disease, type 2D | Sequenzierung aller kodierender Exons des Gens | 2.220 | ||
| GARS | Neuropathy, distal hereditary motor, type V | Sequenzierung aller kodierender Exons des Gens | 2.220 | ||
| GATA1 | GATA1-Related Anemia with Thrombocytopenia | Sequenzierung aller kodierender Exons des Gens | 1.242 | ||
| GATA2 | Emberger syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.443 | |
| GATA2 | Immunodeficiency 21 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.443 | |
| GATA6 | Pancreatic agenesis and congenital heart defects | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| GATA6 | Atrioventricular septal defect 5 | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| GATA6 | Atrial septal defect 9 | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| GATA6 | Persistent truncus arteriosus | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| GATA6 | Tetralogy of Fallot | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| GBA | Parkinson Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.611 | ||
| GBE1 | Glycogen Storage Disease Type IV | Sequenzierung aller kodierender Exons des Gens | 2.109 | ||
| GCDH | Glutaricacidemia Type 1 | Sequenzierung aller kodierender Exons des Gens | 1.317 | ||
| GCH1 | Dopa-responsive Dystonia DYT5 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 753 | |
| GCK | Diabetes mellitus, gestational | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| GCK | Diabetes mellitus, noninsulin-dependent, late onset | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| GCK | MODY, type II | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| GCK | Hyperinsulinemic hypoglycemia, familial, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| GCK | Diabetes mellitus, permanent neonatal | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| GCNT2 | Cataracts, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 1.209 | ||
| GCSH | Glycine Encephalopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 522 | |
| GDAP1 | Charcot-Marie-Tooth Neuropathy Type 2H | Sequenzierung aller kodierender Exons des Gens | 1.077 | ||
| GDAP1 | Charcot-Marie-Tooth Neuropathy Type 2K | Sequenzierung aller kodierender Exons des Gens | 1.077 | ||
| GDAP1 | Charcot-Marie-Tooth Neuropathy Type 4A | Sequenzierung aller kodierender Exons des Gens | 1.077 | ||
| GFAP | Alexander Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.317 | ||
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | Sequenzierung aller kodierender Exons des Gens | 618 | ||
| GJA1 | Hypoplastic Left Heart Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.149 | ||
| GJA1 | Oculodentodigital Dysplasia | Sequenzierung aller kodierender Exons des Gens | 1.149 | ||
| GJA1 | Syndactyly, Type III | Sequenzierung aller kodierender Exons des Gens | 1.149 | ||
| GJB1 | Charcot-Marie-Tooth X-linked | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 852 | |
| GJB2 | DFNA 3 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 681 | |
| GJB2 | DFNB 1 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 681 | |
| GJB2 | Vohwinkel Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 681 | |
| GJB3 | GJB3-Related Erythrokeratodermia Variabilis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 813 | |
| GJB6 | DFNA 3 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 786 | |
| GJC2 | Pelizaeus-Merzbacher-Like Disease 1 | Sequenzierung aller kodierender Exons des Gens | 1.320 | ||
| GJC2 | Spastic Paraplegia 44 | Sequenzierung aller kodierender Exons des Gens | 1.320 | ||
| GLA | Fabry Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.290 | |
| GLB1 | GM1-Gangliosidosis Type 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.034 | |
| GLB1 | Mucopolysaccharidosis Type 4B | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.034 | |
| GLDC | Glycine Encephalopathy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.063 | ||
| GLE1 | Lethal Arthrogryposis with anterior horn cell disease (LAAHD) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.097 | |
| GLE1 | Lethal Congenital Contracture Syndrome 1 (LCCS1) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.097 | |
| GLI2 | Culler-Jones syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.761 | |
| GLI2 | Holoprosencephaly-9 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.761 | |
| GLI3 | Greig Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.743 | ||
| GLRA1 | Hyperekplexia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.374 | |
| GLRB | Hyperekplexia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.494 | |
| GLUL | Glutamine deficiency, congenital | Sequenzierung aller kodierender Exons des Gens | 1.122 | ||
| GNA11 | Hypocalcemia, autosomal dominant 2 | Sequenzierung aller kodierender Exons des Gens | 1.080 | ||
| GNA11 | Hypocalciuric hypercalcemia, type II | Sequenzierung aller kodierender Exons des Gens | 1.080 | ||
| GNAQ | Sturge-Weber syndrome, somatic, mosaic | Sequenzierung aller kodierender Exons des Gens | 1.080 | ||
| GNAQ | Capillary malformations, congenital, 1, somatic, mosaic | Sequenzierung aller kodierender Exons des Gens | 1.080 | ||
| GNAS | McCune-Albright syndrome, somatic, mosaic | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | ACTH-independent macronodular adrenal hyperplasia | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Acromegaly, somatic | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Osseous heteroplasia, progressive | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Pseudohypoparathyroidism Ia | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Pseudohypoparathyroidism Ib | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Pseudohypoparathyroidism Ic | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAS | Pseudopseudohypoparathyroidism | Sequenzierung aller kodierender Exons des Gens | 3.114 | ||
| GNAT2 | Achromatopsia | Sequenzierung aller kodierender Exons des Gens | 1.065 | ||
| GNPTAB | Mucolipidosis | Sequenzierung aller kodierender Exons des Gens | 3.771 | ||
| GNPTG | Mucolipidosis | Sequenzierung aller kodierender Exons des Gens | 918 | ||
| GNRHR | Hypogonadotropic hypogonadism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 987 | |
| GNS | Mucopolysaccharidosis type IIID | Sequenzierung aller kodierender Exons des Gens | 1.659 | ||
| GOSR2 | Epilepsy, progressive myoclonic 6 | Sequenzierung aller kodierender Exons des Gens | 642 | ||
| GPHN | Molybdenum cofactor deficiency C | Sequenzierung aller kodierender Exons des Gens | 2.310 | ||
| GPHN | Hyperekplexia | Sequenzierung aller kodierender Exons des Gens | 2.310 | ||
| GPR143 | Ocular Albinism x-linked | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.215 | |
| GPSM2 | Chudley-McCullough syndrome | Sequenzierung aller kodierender Exons des Gens | 2.055 | ||
| GRIN2A | Epilepsy with neurodevelopmental defects | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.395 | ||
| GRN | Frontotemporal Dementia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.782 | |
| GSN | Amyloidosis, Finnish type | Sequenzierung aller kodierender Exons des Gens | 2.349 | ||
| GSS | Glutathione synthetase deficiency | Sequenzierung aller kodierender Exons des Gens | 1.425 | ||
| GUCA1A | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | 606 | ||
| GUCY2D | Leber Congenital Amaurosis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.312 | |
| HAX1 | Neutropenia, severe congenital 3, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 840 | ||
| HCN4 | Sick Sinus Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.612 | ||
| HCRT | Narcolepsy 1 | Sequenzierung aller kodierender Exons des Gens | 396 | ||
| HDAC8 | Cornelia de Lange Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.134 | ||
| HEATR2 | Ciliary dyskinesia, primary, 18 | Sequenzierung aller kodierender Exons des Gens | 2.568 | ||
| HESX1 | Septooptic dysplasia | Sequenzierung aller kodierender Exons des Gens | 558 | ||
| HEXA | Hexosaminidase A Deficiency | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.590 | |
| HEXA | Tay-Sachs Disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.590 | |
| HFE | Hemochromatosis type 1 (C282Y and H63D mutation; complete HFE gene analysis on request) | Sequenzierung Hotspots [Exon 2,Exon 4,His63Asp,Cys282Tyr] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 |
| HFE | Hereditary Hemochromatosis | Sequenzierung Hotspots [Exon 2,Exon 4,His63Asp,Cys282Tyr] | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 |
| HFE2 | Hemochromatosis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.281 | |
| HGSNAT | Retinitis pigmentosa 73 | Sequenzierung aller kodierender Exons des Gens | 1.908 | ||
| HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) | Sequenzierung aller kodierender Exons des Gens | 1.908 | ||
| HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 381 | |
| HNF1A | Maturity-Onset Diabetes of the Young Type 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.896 | |
| HNF4A | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.425 | |
| HNF4A | MODY, type I | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.425 | |
| HOGA1 | Hyperoxaluria, Primary, Type 3 | Sequenzierung aller kodierender Exons des Gens | 984 | ||
| HOXD13 | Synpolydactyly with foot anomalies | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HOXD13 | Brachydactyly, type D | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HOXD13 | Brachydactyly, type E | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HOXD13 | Brachydactyly-syndactyly syndrome | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HOXD13 | Syndactyly, type V | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HOXD13 | Synpolydactyly, type II | Sequenzierung aller kodierender Exons des Gens | 1.032 | ||
| HRAS | Costello Syndrome | Sequenzierung aller kodierender Exons des Gens | 570 | ||
| HSD11B1 | Cortisone reductase deficiency 2 | Sequenzierung aller kodierender Exons des Gens | 879 | ||
| HSD17B10 | Mental retardation, X-linked syndromic 10 | Sequenzierung aller kodierender Exons des Gens | 786 | ||
| HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency | Sequenzierung aller kodierender Exons des Gens | 786 | ||
| HSD17B4 | Peroxisomal Bifunctional Enzyme Deficiency | Sequenzierung aller kodierender Exons des Gens | 2.286 | ||
| HSD17B4 | Perrault syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 2.286 | ||
| HSD3B7 | Bile acid synthesis defect, congenital, 1 | Sequenzierung aller kodierender Exons des Gens | 1.110 | ||
| HSF4 | Cataracts, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 1.479 | ||
| HTRA1 | CARASIL syndrome | Sequenzierung aller kodierender Exons des Gens | 1.443 | ||
| HTT | Huntington Disease, HD | Fragmentlängenanalyse | 9.429 | ||
| IDS | Mucopolysaccharidosis Type II | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.653 | |
| IL1RAPL1 | Mental retardation, X-linked 21/34 | Sequenzierung aller kodierender Exons des Gens | 2.091 | ||
| IL36RN | Psoriasis 14, pustular | Sequenzierung aller kodierender Exons des Gens | 468 | ||
| IRF6 | Van der Woude-Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.404 | |
| ISCU | Myopathy with lactic acidosis (hereditary) | Sequenzierung aller kodierender Exons des Gens | 504 | ||
| ISPD | Congenital Muscular Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.356 | |
| IYD | Thyroid dyshormonogenesis 4 | Sequenzierung aller kodierender Exons des Gens | 882 | ||
| JAG1 | Alagille syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.657 | |
| JAG1 | Tetralogy of Fallot | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.657 | |
| JAGN1 | Neutropenia, servere congenital, 6, autosomal recessive | Sequenzierung aller kodierender Exons des Gens | 552 | ||
| JAK2 | JAK2-Related Budd-Chiari Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.399 | ||
| JPH3 | Huntington disease-like 2 (HDL2) | Fragmentlängenanalyse | 2.247 | ||
| KCNA1 | Episodic Ataxia - Type 1 | Sequenzierung aller kodierender Exons des Gens | 1.488 | ||
| KCNC3 | Spinocerebellar Ataxia Type13 | Sequenzierung aller kodierender Exons des Gens | 2.274 | ||
| KCND3 | Brugada syndrome 9 | Sequenzierung aller kodierender Exons des Gens | 1.968 | ||
| KCND3 | Spinocerebellar ataxia 19 | Sequenzierung aller kodierender Exons des Gens | 1.968 | ||
| KCNE1 | Jervell and Lange-Nielsen Syndrome (Long-QT-Syndrome) | Sequenzierung aller kodierender Exons des Gens | 390 | ||
| KCNE1 | Romano-Ward Syndrome (Long-QT-Syndrome) | Sequenzierung aller kodierender Exons des Gens | 390 | ||
| KCNE3 | Brugada syndrome 6 | Sequenzierung aller kodierender Exons des Gens | 312 | ||
| KCNJ10 | SESAME syndrome | Sequenzierung aller kodierender Exons des Gens | 1.140 | ||
| KCNJ10 | Enlarged vestibular aqueduct, digenic | Sequenzierung aller kodierender Exons des Gens | 1.140 | ||
| KCNJ2 | Andersen syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.284 | |
| KCNJ2 | Atrial fibrillation, familial, 9 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.284 | |
| KCNJ2 | Short QT syndrome 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.284 | |
| KCNJ5 | Hyperaldosteronism, familial, type III | Sequenzierung aller kodierender Exons des Gens | 1.260 | ||
| KCNJ8 | Cantu Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.275 | ||
| KCNK18 | Migraine, with or without aura, susceptibility to, 13 | Sequenzierung aller kodierender Exons des Gens | 1.155 | ||
| KCNMA1 | Generalised Epilepsy with paroxysmal Dyskinesia | Sequenzierung aller kodierender Exons des Gens | 3.711 | ||
| KCNQ2 | Benign neonatal Epilepsy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.619 | ||
| KCNQ3 | Benign neonatal Epilepsy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.619 | |
| KCNT1 | Epileptic Encephalopathy | Sequenzierung aller kodierender Exons des Gens | 3.708 | ||
| KCNT1 | Nocturnal frontal lobe Epilepsy | Sequenzierung aller kodierender Exons des Gens | 3.708 | ||
| KCNV2 | Retinal Cone Dystrophy 3B | Sequenzierung aller kodierender Exons des Gens | 1.638 | ||
| KCTD17 | Dystonia 26, myoclonic | Sequenzierung aller kodierender Exons des Gens | 894 | ||
| KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | Sequenzierung aller kodierender Exons des Gens | 870 | ||
| KIAA1549 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 5.853 | ||
| KIF1A | Neuropathy, hereditary sensory, type IIC | Sequenzierung aller kodierender Exons des Gens | 5.376 | ||
| KIF1A | Mental retardation, autosomal dominant 9 | Sequenzierung aller kodierender Exons des Gens | 5.376 | ||
| KIF1A | Spastic paraplegia 30 | Sequenzierung aller kodierender Exons des Gens | 5.376 | ||
| KIF1B | Charcot-Marie-Tooth disease, type 2A1 | Sequenzierung aller kodierender Exons des Gens | 5.313 | ||
| KIF5A | Spastic Paraplegia 10 | Sequenzierung aller kodierender Exons des Gens | 3.099 | ||
| KIT | Germ cell tumors | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.931 | |
| KIT | Gastrointestinal stromal tumor, familial | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.931 | |
| KIT | Leukemia, acute myeloid | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.931 | |
| KIT | Mast cell disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.931 | |
| KIT | Piebaldism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.931 | |
| KMT2A | Leukemia, myeloid/lymphoid or mixed-lineage | Sequenzierung aller kodierender Exons des Gens | 11.919 | ||
| KMT2A | Wiedemann-Steiner syndrome | Sequenzierung aller kodierender Exons des Gens | 11.919 | ||
| KRAS | Breast cancer, somatic | Sequenzierung aller kodierender Exons des Gens | 570 | ||
| KRAS | Noonan syndrome | Sequenzierung aller kodierender Exons des Gens | 570 | ||
| KRT12 | Meesmann corneal dystrophy | Sequenzierung aller kodierender Exons des Gens | 1.485 | ||
| KRT16 | Palmoplantar keratoderma, nonepidermolytic, focal | Sequenzierung aller kodierender Exons des Gens | 1.422 | ||
| KRT16 | Pachyonychia congenita 1 | Sequenzierung aller kodierender Exons des Gens | 1.422 | ||
| KRT5 | Epidermolysis Bullosa Simplex, localized | Sequenzierung aller kodierender Exons des Gens | 1.773 | ||
| KRT5 | Epidermolysis Bullosa Simplex, generalized | Sequenzierung aller kodierender Exons des Gens | 1.773 | ||
| KRT5 | Epidermolysis Bullosa Simplex, Dowling-Meara Type | Sequenzierung aller kodierender Exons des Gens | 1.773 | ||
| KRT6C | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | Sequenzierung aller kodierender Exons des Gens | 1.695 | ||
| L1CAM | Hydrocephalus with Hirschsprung disease | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L1CAM | MASA syndrome | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L1CAM | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L1CAM | Hydrocephalus due to aqueductal stenosis | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L1CAM | CRASH syndrome | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L1CAM | Corpus callosum, partial agenesis of | Sequenzierung aller kodierender Exons des Gens | 3.774 | ||
| L2HGDH | L-2-Hydroxyglutaric Aciduria | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.392 | ||
| LAMA1 | Poretti-Boltshauser syndrome | Sequenzierung aller kodierender Exons des Gens | 9.228 | ||
| LAMA2 | Muscular dystrophy, congenital | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 9.369 | ||
| LARS | Infantile liver failure syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 3.531 | ||
| LBR | Greenberg Dysplasia | Sequenzierung aller kodierender Exons des Gens | 1.848 | ||
| LDLR | Autosomal dominant familial hypercholesterolemia (LDL receptor mutation) | Sequenzierung aller kodierender Exons des Gens | 2.583 | ||
| LEP | Obesity, morbid, due to leptin deficiency | Sequenzierung aller kodierender Exons des Gens | 504 | ||
| LGI1 | Temporal lobe Epilepsy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.674 | |
| LHCGR | Leydig cell hypoplasia with pseudohermaphroditism | Sequenzierung aller kodierender Exons des Gens | 2.100 | ||
| LHCGR | Precocious puberty, male | Sequenzierung aller kodierender Exons des Gens | 2.100 | ||
| LHCGR | Leydig cell hypoplasia with hypergonadotropic hypogonadism | Sequenzierung aller kodierender Exons des Gens | 2.100 | ||
| LHCGR | Leydig cell adenoma, somatic, with precocious puberty | Sequenzierung aller kodierender Exons des Gens | 2.100 | ||
| LHCGR | Luteinizing hormone resistance, female | Sequenzierung aller kodierender Exons des Gens | 2.100 | ||
| LHON | Leber optic atrophy | Sequenzierung Hotspots [m.3460G>A,m.11778G>A,m.14484T>C] | 2.859 | ||
| LHX3 | Pituitary hormone deficiency, combined, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.209 | |
| LMNA | Mandibuloacral dysplasia | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Cardiomyopathy, dilated, 1A | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Charcot-Marie-Tooth disease, type 2B1 | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Emery-Dreifuss muscular dystrophy 2, AD | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Emery-Dreifuss muscular dystrophy 3, AR | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Heart-hand syndrome, Slovenian type | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Hutchinson-Gilford progeria | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Lipodystrophy, familial partial, 2 | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Malouf syndrome | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Muscular dystrophy, limb-girdle, type 1B | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Restrictive dermopathy, lethal | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNA | Muscular dystrophy, congenital | Sequenzierung aller kodierender Exons des Gens | 1.995 | ||
| LMNB1 | Leukodystrophy, Adult-Onset, Autosomal Dominant | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 1.761 | |
| LMX1B | Nail-patella syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.221 | |
| LPIN1 | autosomal recessive acute recurrent Myoglobinuria | Sequenzierung aller kodierender Exons des Gens | 2.928 | ||
| LRAT | Leber Congenital Amaurosis | Sequenzierung aller kodierender Exons des Gens | 693 | ||
| LRAT | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 693 | ||
| LRP5 | Familial Exudative Vitreoretinopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.848 | |
| LRP5 | Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.848 | |
| LRP5 | Osteoporosis Pseudoglioma Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.848 | |
| LRP5 | Van Buchem Disease, Type 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.848 | |
| LRRC6 | Ciliary dyskinesia, primary, 19 | Sequenzierung aller kodierender Exons des Gens | 1.401 | ||
| LRRK2 | Parkinson Syndrome | Sequenzierung Hotspots [Exon 24,Exon 25,Exon 27,Exon 29,Exon 31,Exon 35,Exon 41,Exon 44] | 7.584 | ||
| LYST | Chediak-Higashi syndrome | Sequenzierung aller kodierender Exons des Gens | 11.406 | ||
| LYZ | Amyloidosis, renal | Sequenzierung aller kodierender Exons des Gens | 447 | ||
| MAGEL2 | Schaaf-Yang syndrome | 3.750 | |||
| MAN2B1 | Alpha-Mannosidosis | Sequenzierung aller kodierender Exons des Gens | 3.036 | ||
| MAPK10 | Epileptic encephalopathy, Lennox-Gastaut type | Sequenzierung aller kodierender Exons des Gens | 1.395 | ||
| MAPT | Frontotemporal Dementia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.331 | |
| MARS2 | Spastic ataxia 3 | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| MASP1 | 3MC syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 2.187 | ||
| MATN3 | Multiple epiphyseal Dysplasia | Sequenzierung Hotspots [pThr120Met,pArg121Trp] | Sequenzierung aller kodierender Exons des Gens | 1.461 | |
| MBD5 | Mental retardation, autosomal dominant 1 | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 4.485 | |
| MC1R | Albinism, oculocutaneous, type II, modifier of | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| MC1R | Melanoma, cutaneous malignant, 5 | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| MC1R | UV-induced skin damage | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| MCOLN1 | Mucolipidosis IV | Sequenzierung aller kodierender Exons des Gens | 1.743 | ||
| MED13L | Transposition of the great arteries, dextro-looped 1 | Sequenzierung aller kodierender Exons des Gens | 6.633 | ||
| MED17 | Microcephaly, postnatal progressive, with seizures and brain atrophy | Sequenzierung aller kodierender Exons des Gens | 1.956 | ||
| MEF2C | Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.452 | ||
| MEFV | Familial Mediterranean Fever | Sequenzierung Hotspots [Exon 2,Exon 3,Exon 9,Exon 10] | Sequenzierung aller kodierender Exons des Gens | 2.346 | |
| MEN1 | Multiple Endocrine Neoplasia Type 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.848 | |
| MEN1 | Hyperparathyroidism 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.848 | |
| MEOX1 | Klippel-Feil syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 765 | ||
| MFN2 | Charcot-Marie-Tooth Neuropathy Type 2A2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.274 | |
| MFSD8 | Neuronal Ceroid-Lipofuscinosis | Sequenzierung aller kodierender Exons des Gens | 1.557 | ||
| MGAT2 | CDG-Syndrome 2A | Sequenzierung aller kodierender Exons des Gens | 1.344 | ||
| MGME1 | Mitochondrial DNA depletion syndrome 11 | Sequenzierung aller kodierender Exons des Gens | 1.035 | ||
| MID1 | Opitz GBBB Syndrome 1 (X-linked) | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.004 | ||
| MITF | Tietz Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.563 | |
| MITF | Waardenburg Syndrome Type IIA | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.563 | |
| MOCS1 | Molybdenum Cofactor Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.158 | ||
| MPDZ | nonsyndromic Hydrocephalus, autosomal recessive 2 | Sequenzierung aller kodierender Exons des Gens | 6.126 | ||
| MPI | Congenital disorder of glycosylation, type Ib | Sequenzierung aller kodierender Exons des Gens | 1.272 | ||
| MPL | Thrombocythemia 2 | Sequenzierung aller kodierender Exons des Gens | 1.908 | ||
| MPL | Myelofibrosis with myeloid metaplasia, somatic | Sequenzierung aller kodierender Exons des Gens | 1.908 | ||
| MPL | Thrombocytopenia, congenital amegakaryocytic | Sequenzierung aller kodierender Exons des Gens | 1.908 | ||
| MPZ | Charcot-Marie-Tooth Neuropathy Type 2I | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 747 | |
| MPZ | Charcot-Marie-Tooth Neuropathy Type 2J | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 747 | |
| MRE11 | Ataxia Teleangiectatica (AT) | Sequenzierung aller kodierender Exons des Gens | 2.127 | ||
| MSH3 | Endometrial carcinoma, somatic | Sequenzierung aller kodierender Exons des Gens | 3.414 | ||
| MSX1 | Tooth Agenesis, Selective, 1 | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| MSX1 | Witkop Syndrome | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| MSX1 | Orofacial Cleft 5 | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| mtDNA | Mitochondriopathies | Sequenzierung der gesamten DNA | 16.569 | ||
| MTM1 | X-Linked Centronuclear Myopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.812 | |
| MTTP | Abetalipoproteinemia | Sequenzierung aller kodierender Exons des Gens | 2.685 | ||
| MUTYH | Colorectal adenomatous polyposis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.650 | |
| MVK | Porokeratosis 3, disseminated superficial actinic | Sequenzierung Hotspots [Exon 9,Exon 11] | Sequenzierung aller kodierender Exons des Gens | 1.191 | |
| MVK | Hyper-IgD syndrome | Sequenzierung Hotspots [Exon 9,Exon 11] | Sequenzierung aller kodierender Exons des Gens | 1.191 | |
| MVK | Mevalonic aciduria | Sequenzierung Hotspots [Exon 9,Exon 11] | Sequenzierung aller kodierender Exons des Gens | 1.191 | |
| MYBPC3 | Dilated Cardiomyopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.825 | |
| MYCN | Feingold syndrome | Sequenzierung aller kodierender Exons des Gens | 1.395 | ||
| MYH11 | Aortic aneurysm, familial thoracic 4 | Sequenzierung aller kodierender Exons des Gens | 5.940 | ||
| MYH3 | Arthrogryposis, distal, type 2B | Sequenzierung aller kodierender Exons des Gens | 5.823 | ||
| MYH3 | Arthrogryposis, distal, type 2A | Sequenzierung aller kodierender Exons des Gens | 5.823 | ||
| MYH3 | Freeman-Sheldon Syndrome | Sequenzierung aller kodierender Exons des Gens | 5.823 | ||
| MYH7 | Dilated Cardiomyopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.808 | |
| MYH7 | Left ventricular noncompaction 5 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.808 | |
| MYH7 | MYH7-Related Myosin Storage Myopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.808 | |
| MYH9 | Macrothrombocytopenia and progressive sensorineural deafness | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| MYH9 | Deafness, autosomal dominant 17 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| MYH9 | Epstein syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| MYH9 | Fechtner syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| MYH9 | May-Hegglin anomaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| MYH9 | Sebastian syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.883 | |
| NAGLU | Charcot-Marie-Tooth disease, axonal, type 2V | Sequenzierung aller kodierender Exons des Gens | 2.232 | ||
| NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Sequenzierung aller kodierender Exons des Gens | 2.232 | ||
| NDE1 | Lissencephaly 4 (with microcephaly) | Sequenzierung aller kodierender Exons des Gens | 1.008 | ||
| NDE1 | Microhydranencephaly | Sequenzierung aller kodierender Exons des Gens | 1.008 | ||
| NDP | Retinopathy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 402 | ||
| NELFA | Wolf-Hirschhorn Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.620 | ||
| NF1 | Familial Spinal Neurofibromatosis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.520 | |
| NF1 | Neurofibromatosis 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.520 | |
| NF1 | Neurofibromatosis-Noonan Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.520 | |
| NF1 | Watson Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.520 | |
| NF2 | Neurofibromatosis 2 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.788 | ||
| NFIX | Marshall-Smith Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.533 | ||
| NFIX | Sotos Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.533 | ||
| NGF | Hereditary Sensory and Autonomic Neuropathy Type V | Sequenzierung aller kodierender Exons des Gens | 726 | ||
| NHEJ1 | SCID | Sequenzierung aller kodierender Exons des Gens | 900 | ||
| NHLRC1 | Lafora Disease | Sequenzierung aller kodierender Exons des Gens | 1.188 | ||
| NIPBL | Cornelia de Lange Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.415 | |
| NKX2-1 | Benign Chorea | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.206 | |
| NKX2-5 | Congenital Hypothyroidism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 975 | |
| NLGN3 | Asperger syndrome susceptibility, X-linked 1 | Sequenzierung aller kodierender Exons des Gens | 2.547 | ||
| NLGN3 | Autism susceptibility, X-linked 1 | Sequenzierung aller kodierender Exons des Gens | 2.547 | ||
| NLGN4X | Mental retardation, X-linked | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.451 | |
| NLGN4X | Asperger syndrome susceptibility, X-linked 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.451 | |
| NLGN4X | Autism susceptibility, X-linked 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.451 | |
| NLRC4 | Autoinflammation with infantile enterocolitis | Sequenzierung aller kodierender Exons des Gens | 3.075 | ||
| NLRC4 | Familial cold autoinflammatory syndrome 4 | Sequenzierung aller kodierender Exons des Gens | 3.075 | ||
| NLRP3 | Chronic Infantile Neurological Cutaneous and Articular Syndrome | Sequenzierung Hotspots [Exon 3,Exon 4,Exon 6] | Sequenzierung aller kodierender Exons des Gens | 3.111 | |
| NLRP3 | Familial Cold Autoinflamma- tory Syndrome (FCAS) | Sequenzierung Hotspots [Exon 3,Exon 4,Exon 6] | Sequenzierung aller kodierender Exons des Gens | 3.111 | |
| NLRP3 | Muckle-Wells Syndrome | Sequenzierung Hotspots [Exon 3,Exon 4,Exon 6] | Sequenzierung aller kodierender Exons des Gens | 3.111 | |
| NME8 | Ciliary dyskinesia, primary, 6 | Sequenzierung aller kodierender Exons des Gens | 1.767 | ||
| NOD2 | Blau syndrome/early-onset sarcoidosis (mutation in exon 4 of the NOD2 gene) | Sequenzierung aller kodierender Exons des Gens | 3.123 | ||
| NOD2 | Inflammatory bowel disease 1 (analysis of the three most frequent predisposing mutations in the NOD2 gene) | Sequenzierung aller kodierender Exons des Gens | 3.123 | ||
| NOL3 | Myoclonus, familial cortical | Sequenzierung aller kodierender Exons des Gens | 813 | ||
| NOTCH3 | CADASIL | Sequenzierung aller kodierender Exons des Gens | 6.966 | ||
| NPC1 | Niemann-Pick Disease Type C | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.837 | |
| NPC2 | Niemann-Pick Disease Type C | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 456 | |
| NPHP1 | Joubert Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.202 | ||
| NPHP1 | Senior-Loken syndrome 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.202 | ||
| NPHP3 | Meckel Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.993 | ||
| NPHP4 | Senior-Loken syndrome 4 | Sequenzierung aller kodierender Exons des Gens | 4.281 | ||
| NR2E3 | Goldmann-Favre-Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.233 | ||
| NR2E3 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 1.233 | ||
| NRXN1 | Pitt-Hopkins-Like Syndrome 2 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.644 | ||
| NSD1 | Sotos Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.091 | ||
| NSD1 | Weaver Syndrome 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.091 | ||
| NYX | Congenital Stationary Night-Blindness | Sequenzierung aller kodierender Exons des Gens | 1.446 | ||
| OAT | Gyrate atrophy of choroid and retina with or without ornithinemia | Sequenzierung aller kodierender Exons des Gens | 1.320 | ||
| OCA2 | Albinism, brown oculocutaneous | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.517 | |
| OCA2 | Albinism, oculocutaneous, type II | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.517 | |
| OCRL | Lowe syndrome | Sequenzierung aller kodierender Exons des Gens | 2.706 | ||
| OCRL | Dent disease 2 | Sequenzierung aller kodierender Exons des Gens | 2.706 | ||
| OFD1 | Joubert Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.039 | ||
| OFD1 | Oral-Facial-Digital Syndrome Type 1 | Sequenzierung aller kodierender Exons des Gens | 3.039 | ||
| OFD1 | Simpson-Golabi-Behmel Syndrome Type 2 | Sequenzierung aller kodierender Exons des Gens | 3.039 | ||
| OGDH | Alpha-ketoglutarate dehydrogenase deficiency | Sequenzierung aller kodierender Exons des Gens | 3.072 | ||
| OPA1 | Optic Atrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.048 | |
| OPA3 | Optic Atrophy | Sequenzierung aller kodierender Exons des Gens | 543 | ||
| OPHN1 | X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance | Sequenzierung aller kodierender Exons des Gens | 2.409 | ||
| OPTN | Glaucoma, Open Angle | Sequenzierung aller kodierender Exons des Gens | 1.734 | ||
| ORAI1 | Myopathy, tubular aggregate, 2 | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| ORAI1 | Immunodeficiency 9 | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| ORC4 | Meier-Gorlin Syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 1.311 | ||
| ORC6 | Meier-Gorlin Syndrome 3 | Sequenzierung aller kodierender Exons des Gens | 759 | ||
| OTOF | DFNB 1 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | 5.994 | ||
| OTX2 | Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction | Sequenzierung aller kodierender Exons des Gens | 894 | ||
| OTX2 | Microphthalmia, syndromic 5 | Sequenzierung aller kodierender Exons des Gens | 894 | ||
| P2RX7 | chronic lymphocytic leukemia (CLL) | Sequenzierung aller kodierender Exons des Gens | 1.788 | ||
| PABPN1 | Oculopharyngeal Muscular Dystrophy | Sequenzierung aller kodierender Exons des Gens | 921 | ||
| PAFAH1B1 | Lissencephaly | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 1.233 | |
| PAFAH1B1 | Lissencephaly | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 1.233 | |
| PAH | Phenylketonuria | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.359 | |
| PALB2 | Hereditary Breast Cancer | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.561 | |
| PANK2 | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.713 | |
| PARK2 | Juvenile Parkinson Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.398 | ||
| PARK7 | Juvenile Parkinson Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 570 | ||
| PAX6 | Coloboma, ocular | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.311 | ||
| PAX6 | Cataract with late-onset corneal dystrophy | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.311 | ||
| PAX6 | Coloboma of optic nerve | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.311 | ||
| PAX6 | Aniridia | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.311 | ||
| PAX8 | Congenital Hypothyroidism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.353 | |
| PCDH19 | Epileptic Encephalopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.447 | |
| PDE4D | Acrodysostosis 2, with or without hormone resistance | Sequenzierung aller kodierender Exons des Gens | 2.430 | ||
| PDE6C | Achromatopsia | Sequenzierung aller kodierender Exons des Gens | 2.577 | ||
| PDE6H | Retinal Cone Dystrophy 3A | Sequenzierung aller kodierender Exons des Gens | 252 | ||
| PDHA1 | Pyruvate Dehydrogenase (PDH)-Deficiency | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.287 | ||
| PEX1 | Peroxisome Biogenesis Disorders (PBD) | Sequenzierung aller kodierender Exons des Gens | 3.852 | ||
| PEX1 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.852 | ||
| PEX10 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| PEX12 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.080 | ||
| PEX2 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 918 | ||
| PEX26 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 918 | ||
| PEX5 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.965 | ||
| PEX6 | Zellweger Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.943 | ||
| PEX7 | Peroxisome Biogenesis Disorders (PBD) | Sequenzierung aller kodierender Exons des Gens | 972 | ||
| PFN1 | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 423 | ||
| PGAM2 | Glycogen Storage Disease X | Sequenzierung aller kodierender Exons des Gens | 762 | ||
| PGK1 | Phosphoglycerate kinase 1 deficiency | Sequenzierung aller kodierender Exons des Gens | 1.254 | ||
| PHEX | Hypophosphatemic rickets, X-linked dominant | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.250 | |
| PHF6 | Borjeson-Forssman-Lehmann Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.098 | ||
| PHF6 | Borjeson-Forssman-Lehmann Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.098 | ||
| PHYH | Refsum disease | Sequenzierung aller kodierender Exons des Gens | 1.017 | ||
| PIGA | Paroxysomal Nocturnal Hemoglobinuria | Sequenzierung aller kodierender Exons des Gens | 1.455 | ||
| PIK3R2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 2.187 | ||
| PINK1 | Juvenile Parkinson Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.746 | |
| PITX2 | Peters Anomaly | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 975 | ||
| PITX2 | Axenfeld-Rieger Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 975 | ||
| PKHD1 | Polycystic kidney and hepatic disease | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 12.225 | |
| PKLR | Pyruvate kinase deficiency | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.725 | |
| PLA2G6 | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.421 | |
| PLA2G6 | Parkinsonism and Dystonia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.421 | |
| PLCB1 | Epileptic Encephalopathy, Early Infantile, 12 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.651 | ||
| PLCG2 | Familial cold autoinflammatory syndrome 3 | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 3.798 | |
| PLCG2 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 3.798 | |
| PLEC | Epidermolysis bullosa simplex with nail dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 14.055 | |
| PLEC | Muscular dystrophy, limb-girdle, type 2Q | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 14.055 | |
| PLEC | Epidermolysis bullosa simplex, Ogna type | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 14.055 | |
| PLEC | Epidermolysis bullosa simplex with pyloric atresia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 14.055 | |
| PLEC | Epidermolysis bullosa simplex with muscular dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 14.055 | |
| PLP1 | Pelizaeus-Merzbacher disease | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 834 | |
| PLP1 | Spastic paraplegia 2, X-linked | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 834 | |
| PMM2 | CDG-Syndrome 1A | Sequenzierung aller kodierender Exons des Gens | 741 | ||
| PMP22 | Charcot-Marie-Tooth Neuropathy Type 1A | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 483 | |
| PMP22 | Hereditary Neuropathy with liability to pressure palsies | Deletions-/Duplikationsanalyse (MLPA / qPCR) | Sequenzierung aller kodierender Exons des Gens | 483 | |
| PNKD | Paroxysmal nonkinesiogenic Dyskinesia 1 PNKD1 | Sequenzierung aller kodierender Exons des Gens | 1.158 | ||
| PNKP | Epileptic encephalopathy, early infantile, 10 | Sequenzierung aller kodierender Exons des Gens | 1.566 | ||
| PNPLA3 | Susceptibility to nonalcoholic fatty liver disease (PNPLA3 gene) | Sequenzierung aller kodierender Exons des Gens | 1.446 | ||
| PNPO | Pyridoxamine 5-prime-phosphate oxidase deficiency | Sequenzierung aller kodierender Exons des Gens | 786 | ||
| POLE | FILS syndrome | Sequenzierung aller kodierender Exons des Gens | 6.861 | ||
| POLG | Alpers Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.720 | |
| POLG | Progressive external Ophthalmoplegia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.720 | |
| POLG | Mitochondrial recessive Ataxia Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.720 | |
| POLG | POLG-Related Ataxia Neuropathy Spectrum Disorders | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.720 | |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | Sequenzierung aller kodierender Exons des Gens | 1.458 | ||
| POLR1C | Treacher Collins syndrome 3 | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| POLR1C | Leukodystrophy, hypomyelinating, 11 | Sequenzierung aller kodierender Exons des Gens | 1.041 | ||
| POLR1D | Treacher Collins syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 402 | ||
| POLR3A | Leukodystrophy, hypomyelinating, 7 | Sequenzierung aller kodierender Exons des Gens | 4.173 | ||
| POU1F1 | Pituitary hormone deficiency, combined, 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 954 | ||
| PPM1K | Maple syrup urine disease, mild variant | Sequenzierung aller kodierender Exons des Gens | 1.119 | ||
| PPT1 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 921 | |
| PQBP1 | Renpenning Syndrome 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 798 | ||
| PRF1 | Lymphoma, non-Hodgkin | Sequenzierung aller kodierender Exons des Gens | 1.668 | ||
| PRF1 | Hemophagocytic lymphohistiocytosis, familial, 2 | Sequenzierung aller kodierender Exons des Gens | 1.668 | ||
| PRICKLE1 | Progressive Myoclonus Epilepsy with Ataxia | Sequenzierung aller kodierender Exons des Gens | 2.496 | ||
| PRKAR1A | Carney Complex | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.146 | |
| PRKCG | Spinocerebellar ataxia 14 | Sequenzierung aller kodierender Exons des Gens | 2.094 | ||
| PRKRA | Dystonia 16 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 942 | |
| PRKRA | Early Onset Dystonia with Parkinsonism | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 942 | |
| PRNP | Genetic Prion Disease | Sequenzierung aller kodierender Exons des Gens | 762 | ||
| PROK1 | Hirschsprung Disease | Sequenzierung aller kodierender Exons des Gens | 318 | ||
| PROM1 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.598 | |
| PROP1 | Pituitary hormone deficiency, combined, 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 681 | |
| PRPF31 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.500 | |
| PRPH2 | Patterned Dystrophy of Retinal Pigment Epithelium | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | |
| PRPH2 | Adult-Onset Vitelliform Macular Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | |
| PRPH2 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | |
| PRPH2 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.041 | |
| PRPS1 | Charcot-Marie-Tooth Neuropathy X Type 5 | Sequenzierung aller kodierender Exons des Gens | 957 | ||
| PRPS1 | DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | 957 | ||
| PRRT2 | Familial Paroxysmal Kinesigenic Dyskinesia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.185 | |
| PRSS1 | Pancreatitis, hereditary | Sequenzierung aller kodierender Exons des Gens | 744 | ||
| PRSS1 | Trypsinogen deficiency | Sequenzierung aller kodierender Exons des Gens | 744 | ||
| PSAP | Encephalopathy due to prosaposin deficiency | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| PSAP | Gaucher disease | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| PSAP | Metachromatic Leukodystrophy | Sequenzierung aller kodierender Exons des Gens | 1.575 | ||
| PSEN1 | Alzheimer Dementia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.404 | |
| PSEN2 | Alzheimer Dementia | Sequenzierung aller kodierender Exons des Gens | 1.347 | ||
| PSMB8 | Autoinflammation, lipodystrophy, and dermatosis syndrome (Nakajo-Nishimura or CANDLE syndrome; PSMB8 gene) | Sequenzierung aller kodierender Exons des Gens | 831 | ||
| PSTPIP1 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | Sequenzierung aller kodierender Exons des Gens | 1.251 | ||
| PTCH1 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.344 | |
| PTCH2 | Medulloblastoma, desmoplastic | Sequenzierung aller kodierender Exons des Gens | 3.612 | ||
| PTCH2 | Basal cell nevus syndrome | Sequenzierung aller kodierender Exons des Gens | 3.612 | ||
| PTCH2 | Basal cell carcinoma, somatic | Sequenzierung aller kodierender Exons des Gens | 3.612 | ||
| PTDSS1 | Lenz-Majewski hyperostotic dwarfism | Sequenzierung aller kodierender Exons des Gens | 1.422 | ||
| PTEN | Bannayan-Riley-Ruvalcaba syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.212 | ||
| PTEN | Cowden syndrome 1 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.212 | ||
| PTEN | Lhermitte-Duclos syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.212 | ||
| PTEN | Macrocephaly/Autism Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.212 | ||
| PTPN11 | LEOPARD syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| PTPN11 | Noonan syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| PTPN11 | Metachondromatosis | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| PTPN11 | Leukemia, juvenile myelomonocytic, somatic | Sequenzierung aller kodierender Exons des Gens | 1.782 | ||
| PTRF | Kongenitale generalisierte Lipodystrophie mit Muskeldystrophie | Sequenzierung aller kodierender Exons des Gens | 1.173 | ||
| PTS | 6-Pyruvoyltetrahydropterin Synthase Deficiency | Sequenzierung aller kodierender Exons des Gens | 438 | ||
| PYGM | Glycogen Storage Disease Type V | Sequenzierung aller kodierender Exons des Gens | 2.529 | ||
| QDPR | Dihydropteridine reductase deficiency | Sequenzierung aller kodierender Exons des Gens | 735 | ||
| RAB3GAP1 | Warburg Micro Syndrome 1 | Sequenzierung aller kodierender Exons des Gens | 2.967 | ||
| RAD21 | Cornelia de Lange Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.896 | ||
| RAD51 | Mirror movements 2 | Sequenzierung aller kodierender Exons des Gens | 1.023 | ||
| RAD51D | RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 | |
| RAI1 | Smith-Magenis-Syndrome (SMS) | Sequenzierung aller kodierender Exons des Gens | 5.721 | ||
| RAPSN | Myasthenic Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.239 | ||
| RARS2 | Pontocerebellar Hypoplasia Type 6 | Sequenzierung aller kodierender Exons des Gens | 1.737 | ||
| RBBP8 | Jawad Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.694 | ||
| RBBP8 | Seckel Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.694 | ||
| RBM10 | TARP syndrome | Sequenzierung aller kodierender Exons des Gens | 2.793 | ||
| RBP3 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 3.744 | ||
| REEP1 | Spastic Paraplegia 31 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 627 | |
| REPS1 | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | |||
| RHO | Retinitis punctata albescens | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 | |
| RHO | Retinitis pigmentosa 4, autosomal dominant or recessive | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 | |
| RHO | Night blindness, congenital stationary, autosomal dominant 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.047 | |
| RLBP1 | Bothnia Retinal Dysfunction | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| RLBP1 | Retinis Punctata | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| RLBP1 | Fundus albipunctatus | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| RLBP1 | Cone-Rod-Dystrophy | Sequenzierung aller kodierender Exons des Gens | 954 | ||
| RNASEH2B | Aicardi-Goutieres syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 939 | ||
| RNASET2 | Leukoencephalopathy, cystic, without megalencephaly | Sequenzierung aller kodierender Exons des Gens | 771 | ||
| ROBO3 | Horizontal Gaze Palsy and Scoliosis | Sequenzierung aller kodierender Exons des Gens | 4.161 | ||
| ROGDI | Kohlschutter-Tonz Syndrome | Sequenzierung aller kodierender Exons des Gens | 864 | ||
| RP1 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.471 | |
| RP1L1 | Occult Macular Dystrophy (OCMD) | Sequenzierung aller kodierender Exons des Gens | 7.203 | ||
| RP2 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.053 | ||
| RPE65 | Autosomal Dominant Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.602 | |
| RPE65 | Autosomal Recessive Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.602 | |
| RPE65 | Leber Congenital Amaurosis 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.602 | |
| RPGR | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.459 | |
| RRM2B | Mitochondrial DNA Depletion Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.056 | |
| RS1 | X-Linked Juvenile Retinoschisis | Sequenzierung aller kodierender Exons des Gens | 675 | ||
| RSPH1 | Ciliary dyskinesia, primary, 24 | Sequenzierung aller kodierender Exons des Gens | 930 | ||
| RUNX2 | Cleidocranial dysplasia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.566 | |
| RUNX2 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.566 | |
| SAA1 | Susceptibility to amyloidosis (SAA1 amino acids 70 and 75 encoded by exon 3) | Sequenzierung Hotspots [Exon 3] | 369 | ||
| SACS | Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 13.740 | |
| SALL1 | Townes-Brocks syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.975 | |
| SALL1 | Townes-Brocks branchiootorenal-like syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.975 | |
| SALL4 | Duane-radial ray syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.162 | ||
| SALL4 | IVIC syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.162 | ||
| SAMHD1 | Aicardi-Goutieres syndrome 5 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.881 | ||
| SAMHD1 | Chilblain lupus 2 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.881 | ||
| SCN1A | Familial hemiplegic Migraine Type 3 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.030 | ||
| SCN1A | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 6.030 | ||
| SCN1B | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequenzierung aller kodierender Exons des Gens | 807 | ||
| SCN2A | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequenzierung aller kodierender Exons des Gens | 6.018 | ||
| SCN3A | cryptogenic pediatric partial epilepsy | Sequenzierung aller kodierender Exons des Gens | 6.003 | ||
| SCN3A | Grand mal epilepsy | Sequenzierung aller kodierender Exons des Gens | 6.003 | ||
| SCN3A | focal epilepsy | Sequenzierung aller kodierender Exons des Gens | 6.003 | ||
| SCN4A | Myasthenic Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.511 | |
| SCN4A | Paramyotonia Congenita | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.511 | |
| SCN8A | Epileptic Encephalopathy, Early Infantile, 13 | Sequenzierung aller kodierender Exons des Gens | 5.943 | ||
| SCN9A | Inherited Erythromelalgia | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| SCN9A | Generalised Epilepsy with febrile seizures plus (GEFS+) | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| SCN9A | Congenital Indifference to Pain, Autosomal Recessive | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| SCN9A | Paroxysmal Extreme Pain Disorder | Sequenzierung aller kodierender Exons des Gens | 5.934 | ||
| SCNN1B | Pseudohypoaldosteronism Type 1 | Sequenzierung aller kodierender Exons des Gens | 1.923 | ||
| SCNN1G | Pseudohypoaldosteronism Type 1 | Sequenzierung aller kodierender Exons des Gens | 1.950 | ||
| SCP2 | Leukoencephalopathy with dystonia and motor neuropathy | Sequenzierung aller kodierender Exons des Gens | 1.644 | ||
| SDHAF2 | Paragangliomas 2 | Sequenzierung aller kodierender Exons des Gens | 501 | ||
| SDHB | Paraganglioma and Gastric Stromal Sarcoma | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 843 | ||
| SDHB | Cowden-Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 843 | ||
| SDHB | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 843 | ||
| SDHD | Paraganglioma and Gastric Stromal Sarcoma | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 480 | ||
| SDHD | Cowden-Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 480 | ||
| SDHD | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 480 | ||
| SEMA3E | CHARGE Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.328 | ||
| SEMA3E | CHARGE Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.328 | ||
| SEPT9 | Ovarian carcinoma | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.761 | |
| SEPT9 | Amyotrophy, hereditary neuralgic | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.761 | |
| SEPT9 | Leukemia, acute myeloid, therapy-related | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.761 | |
| SERPINC1 | Thrombophilia due to Antithrombin III Deficiency | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.395 | ||
| SERPING1 | Angioedema, hereditary, types I and II | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.503 | |
| SERPING1 | Complement component 4, partial deficiency of | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.503 | |
| SETBP1 | Schinzel-Giedion Midface Retraction Syndrome | Sequenzierung aller kodierender Exons des Gens | 4.791 | ||
| SETX | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.034 | |
| SETX | Spinocerebellar Ataxia with Axonal Neuropathy Type 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 8.034 | |
| SFTPB | Surfactant metabolism dysfunction, pulmonary, 1 | Sequenzierung aller kodierender Exons des Gens | 1.182 | ||
| SFTPB | Pulmonary surfactant metabolism dysfunction type 1 (Surfactant protein B deficiency; SFTPB gene) | Sequenzierung aller kodierender Exons des Gens | 1.182 | ||
| SFTPC | Surfactant metabolism dysfunction, pulmonary, 2 | Sequenzierung aller kodierender Exons des Gens | 594 | ||
| SGCE | Myclonus Dystonia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.389 | |
| SGSH | Mucopolysaccharidosis Type IIIA | Sequenzierung aller kodierender Exons des Gens | 1.509 | ||
| SHH | Single median maxillary central incisor | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.389 | |
| SHH | Holoprosencephaly-3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.389 | |
| SHH | Microphthalmia with coloboma 5 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.389 | |
| SHH | Schizencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.389 | |
| SIL1 | Marinesco-Sjögren-Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.386 | |
| SIX3 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 999 | |
| SIX3 | Schizencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 999 | |
| SLC12A3 | Gitelman Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.093 | |
| SLC12A5 | Epileptic encephalopathy, early infantile, 34 | Sequenzierung aller kodierender Exons des Gens | 3.420 | ||
| SLC16A12 | Cataract, juvenile, with microcornea and glucosuria | Sequenzierung aller kodierender Exons des Gens | 1.551 | ||
| SLC17A5 | Salla Disease | Sequenzierung aller kodierender Exons des Gens | 1.488 | ||
| SLC19A3 | Biotin-Responsive Basal Ganglia Disease | Sequenzierung aller kodierender Exons des Gens | 1.491 | ||
| SLC1A3 | Episodic Ataxia Type 6 | Sequenzierung aller kodierender Exons des Gens | 1.629 | ||
| SLC22A5 | Carnitine deficiency, systemic primary | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.674 | |
| SLC25A15 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Sequenzierung aller kodierender Exons des Gens | 906 | ||
| SLC25A19 | Progressive demyelinating neuropathy | Sequenzierung aller kodierender Exons des Gens | 963 | ||
| SLC25A22 | Epileptic Encephalopathy, Early Infantile, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 972 | |
| SLC25A3 | Mitochondrial Phosphate Carrier Deficiency | Sequenzierung aller kodierender Exons des Gens | 1.089 | ||
| SLC26A2 | Multiple epiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | 2.220 | ||
| SLC26A4 | Pendred Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.343 | |
| SLC26A5 | DFNB61 Nonsyndromic Hearing Loss and Deafness | Sequenzierung aller kodierender Exons des Gens | 2.235 | ||
| SLC2A1 | GLUT1 Deficiency Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.479 | ||
| SLC2A10 | Arterial tortuosity syndrome | Sequenzierung aller kodierender Exons des Gens | 1.626 | ||
| SLC30A10 | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | Sequenzierung aller kodierender Exons des Gens | 1.458 | ||
| SLC35A1 | Congenital disorder of glycosylation, type IIf | Sequenzierung aller kodierender Exons des Gens | 1.014 | ||
| SLC35D1 | Schneckenbecken dysplasia | Sequenzierung aller kodierender Exons des Gens | 1.068 | ||
| SLC36A2 | Iminoglycinuria | Sequenzierung aller kodierender Exons des Gens | 1.452 | ||
| SLC3A1 | Cystinuria | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.058 | ||
| SLC40A1 | Hereditary Hemochromatosis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.716 | |
| SLC45A2 | Oculocutaneous Albinism Type 4 | Sequenzierung aller kodierender Exons des Gens | 1.593 | ||
| SLC46A1 | Hereditary Folate Malabsorption | Sequenzierung aller kodierender Exons des Gens | 1.380 | ||
| SLC4A1 | Ovalocytosis | Sequenzierung aller kodierender Exons des Gens | 2.736 | ||
| SLC4A1 | Spherocytosis, type 4 | Sequenzierung aller kodierender Exons des Gens | 2.736 | ||
| SLC4A1 | Renal tubular acidosis, distal, AD | Sequenzierung aller kodierender Exons des Gens | 2.736 | ||
| SLC4A1 | Renal tubular acidosis, distal, AR | Sequenzierung aller kodierender Exons des Gens | 2.736 | ||
| SLC5A5 | Thyroid dyshormonogenesis 1 | Sequenzierung aller kodierender Exons des Gens | 1.932 | ||
| SLC5A6 | association with brain, immune, bone, and intestinal dysfunction in a young child | Sequenzierung aller kodierender Exons des Gens | |||
| SLC6A20 | Hyperglycinuria | Sequenzierung aller kodierender Exons des Gens | 1.779 | ||
| SLC6A20 | Iminoglycinuria | Sequenzierung aller kodierender Exons des Gens | 1.779 | ||
| SLC6A3 | Parkinsonism-dystonia, infantile | Sequenzierung aller kodierender Exons des Gens | 1.863 | ||
| SLC6A5 | Hyperekplexia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.394 | |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.908 | |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.659 | |
| SMAD4 | Myhre syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.659 | |
| SMAD4 | Polyposis, juvenile intestinal | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.659 | |
| SMC1A | Cornelia de Lange Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.702 | ||
| SMC3 | Cornelia de Lange Syndrome | Sequenzierung aller kodierender Exons des Gens | 3.654 | ||
| SMPD1 | Niemann-Pick Disease Type A / Type B | Sequenzierung aller kodierender Exons des Gens | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.896 | |
| SMS | X-linked mental Retardation, Snyder-Robinson Type | Sequenzierung aller kodierender Exons des Gens | 1.101 | ||
| SNAP29 | CEDNIK syndrome | Sequenzierung aller kodierender Exons des Gens | 777 | ||
| SNCA | Parkinson Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 423 | |
| SOX10 | Waardenburg Syndrome Type 2E | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| SOX10 | Waardenburg Syndrome Type 4C | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.401 | |
| SOX3 | Panhypopituitarism, X-linked | Sequenzierung aller kodierender Exons des Gens | 1.341 | ||
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency | Sequenzierung aller kodierender Exons des Gens | 1.341 | ||
| SPAST | Spastic Paraplegia 4 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.851 | ||
| SPATA5 | Epilepsy, hearing loss and mental retardation syndrome | Sequenzierung aller kodierender Exons des Gens | 2.682 | ||
| SPG11 | Spastic paraplegia 11 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 7.332 | |
| SPG7 | Spastic Paraplegia 7 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.388 | ||
| SPINK1 | Tropical calcific pancreatitis | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 240 | |
| SPINK1 | Pancreatitis, hereditary | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 240 | |
| SPR | Dopa-Responsive Dyst. due to Sepiapterin Red. Deficiency | Sequenzierung aller kodierender Exons des Gens | 786 | ||
| SPRED1 | Legius syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.335 | ||
| SPTAN1 | Epileptic Encephalopathy, Early Infantile, 5 | Sequenzierung aller kodierender Exons des Gens | 7.434 | ||
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | Sequenzierung aller kodierender Exons des Gens | 1.422 | ||
| SRCAP | Floating-Harbor syndrome | Sequenzierung aller kodierender Exons des Gens | 9.693 | ||
| SRPX2 | Rolandic Epilepsy | Sequenzierung aller kodierender Exons des Gens | 1.398 | ||
| ST3GAL3 | Mental retardation, autosomal recessive 12 | Sequenzierung aller kodierender Exons des Gens | 1.335 | ||
| ST3GAL3 | Epileptic encephalopathy, early infantile, 15 | Sequenzierung aller kodierender Exons des Gens | 1.335 | ||
| STK11 | Peutz-Jeghers syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.302 | ||
| STUB1 | Spinocerebellar ataxia, autosomal recessive 16 | Sequenzierung aller kodierender Exons des Gens | 912 | ||
| STX16 | Pseudohypoparathyroidism Ib | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 978 | |
| STXBP1 | Epileptic Encephalopathy, Early Infantile, 4 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.812 | ||
| SUFU | Medulloblastoma, desmoplastic | Sequenzierung aller kodierender Exons des Gens | 1.455 | ||
| SUFU | Basal cell nevus syndrome | Sequenzierung aller kodierender Exons des Gens | 1.455 | ||
| SUOX | Sulfite oxidase deficiency | Sequenzierung aller kodierender Exons des Gens | 1.638 | ||
| SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | Sequenzierung aller kodierender Exons des Gens | 2.118 | ||
| SYNGAP1 | Mental retardation, autosomal dominant 5 | Sequenzierung aller kodierender Exons des Gens | 4.032 | ||
| TARDBP | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 1.245 | ||
| TBK1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | Sequenzierung aller kodierender Exons des Gens | 2.190 | ||
| TBP | Spinocerebellar Ataxia 17 | Repeat-Expansions-Analyse | 1.020 | ||
| TCF4 | Pitt-Hopkins Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.322 | ||
| TCOF1 | Treacher Collins Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.467 | ||
| TECTA | Deafness, autosomal dominant 8/12 | Sequenzierung aller kodierender Exons des Gens | 6.468 | ||
| TECTA | Deafness, autosomal recessive 21 | Sequenzierung aller kodierender Exons des Gens | 6.468 | ||
| TEK | Venous malformations, multiple cutaneous and mucosal | Sequenzierung aller kodierender Exons des Gens | 3.375 | ||
| TG | Thyroid dyshormonogenesis 3 | Sequenzierung aller kodierender Exons des Gens | 8.307 | ||
| TGIF1 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.206 | |
| TH | Dopa-responsive Dystonia THD | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.587 | |
| THAP1 | Primary Dystonia DYT6 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 642 | |
| TIA1 | Welander distal myopathy | Sequenzierung aller kodierender Exons des Gens | 1.161 | ||
| TIMM8A | Deafness-Dystonia-Syndrome Mohr-Tranebjaerg-Syndrome | Sequenzierung aller kodierender Exons des Gens | 294 | ||
| TIMM8A | Deafness Optic Atrophy Syndrome | Sequenzierung aller kodierender Exons des Gens | 294 | ||
| TK2 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 798 | |
| TMEM106B | Frontotemporal Dementia | Sequenzierung aller kodierender Exons des Gens | 825 | ||
| TMEM126A | Optic Atrophy Type 7 | Sequenzierung aller kodierender Exons des Gens | 588 | ||
| TMEM165 | CDG-Syndrome 2K | Sequenzierung aller kodierender Exons des Gens | 975 | ||
| TMEM43 | Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | Sequenzierung aller kodierender Exons des Gens | 1.203 | ||
| TNFRSF1A | Periodic fever, familial | Sequenzierung Hotspots [Exon 2,Exon 3,Exon 4,Exon 6,Exon 7,Exon 10] | Sequenzierung aller kodierender Exons des Gens | 1.368 | |
| TNFRSF1A | Familial autosomal dominant periodic fever (TRAPS; mutation in exons 2, 3, 4, and 6 of the TNFRSF1A gene) | Sequenzierung Hotspots [Exon 2,Exon 3,Exon 4,Exon 6,Exon 7,Exon 10] | Sequenzierung aller kodierender Exons des Gens | 1.368 | |
| TNNT2 | Dilated Cardiomyopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 888 | |
| TNNT2 | Cardiomyopathy, familial hypertrophic, 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 888 | |
| TNNT2 | Cardiomyopathy, familial restrictive, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 888 | |
| TOMM40 | Alzheimer Disease, late-onset | Sequenzierung aller kodierender Exons des Gens | 1.086 | ||
| TOR1A | Primary Dystonia DYT1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 999 | |
| TPM2 | Nemaline Myopathy | Sequenzierung aller kodierender Exons des Gens | 855 | ||
| TPP1 | Neuronal Ceroid-Lipofuscinoses | Sequenzierung aller kodierender Exons des Gens | 1.692 | ||
| TRAPPC10 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens | 3.780 | ||
| TRAPPC2 | Spondyloepiphyseal Dysplasia | Sequenzierung aller kodierender Exons des Gens | 525 | ||
| TREM2 | Nasu-Hakola disease | Sequenzierung aller kodierender Exons des Gens | 693 | ||
| TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy | Sequenzierung aller kodierender Exons des Gens | 1.110 | ||
| TREX1 | Aicardi-Goutieres syndrome 1, dominant and recessive | Sequenzierung aller kodierender Exons des Gens | 1.110 | ||
| TREX1 | Chilblain lupus | Sequenzierung aller kodierender Exons des Gens | 1.110 | ||
| TRPM1 | Congenital Stationary Night-Blindness | Sequenzierung aller kodierender Exons des Gens | 4.929 | ||
| TRPS1 | Langer-Giedion Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.885 | ||
| TRPS1 | Trichorhinophalangeal Syndrome Type I | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.885 | ||
| TRPS1 | Trichorhinophalangeal Syndrome Type III | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.885 | ||
| TRPV4 | Charcot-Marie-Tooth Neuropathy Type 2C | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.616 | |
| TRPV4 | Hereditary motor and sensory Neuropathy Type 2C | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.616 | |
| TSC1 | Tuberous Sclerosis 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.495 | |
| TSC2 | Tuberous Sclerosis 2 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 5.424 | |
| TSEN54 | Pontocerebellar Hypoplasia Type 2A | Sequenzierung Hotspots [Exon 8,c.919G>T (p.Ala307Ser)] | Sequenzierung aller kodierender Exons des Gens | 1.581 | |
| TSHR | Hypothyroidism, congenital, nongoitrous, 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.295 | |
| TSHR | Hyperthyroidism, familial gestational | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.295 | |
| TSHR | Hyperthyroidism, nonautoimmune | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.295 | |
| TSPAN12 | Familial Exudative Vitreoretinopathy | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 918 | |
| TTC8 | Bardet Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.548 | ||
| TTC8 | Bardet Biedl Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.548 | ||
| TTC8 | Retinitis Pigmentosa | Sequenzierung aller kodierender Exons des Gens | 1.548 | ||
| TTR | Hereditary transthyretin-related Amyloidosis | Sequenzierung aller kodierender Exons des Gens | 444 | ||
| TUBA1A | Lissencephaly | Sequenzierung aller kodierender Exons des Gens | 1.356 | ||
| TUBA1A | Lissencephaly | Sequenzierung aller kodierender Exons des Gens | 1.356 | ||
| TUBA8 | Polymicrogyria with Optic Nerve Hypoplasia | Sequenzierung aller kodierender Exons des Gens | 1.350 | ||
| TUBB2B | Polymicrogyria, Asymmetric | Sequenzierung aller kodierender Exons des Gens | 1.338 | ||
| TUBB3 | Congenital Fibrosis of the Extraocular Muscles | Sequenzierung aller kodierender Exons des Gens | 1.353 | ||
| TUBB4A | Leukodystrophy, hypomyelinating, 6 | Sequenzierung aller kodierender Exons des Gens | 1.335 | ||
| TUBB4A | Dystonia 4, torsion, autosomal dominant | Sequenzierung aller kodierender Exons des Gens | 1.335 | ||
| TWIST1 | Saethre-Chotzen Syndrome | Sequenzierung aller kodierender Exons des Gens | 609 | ||
| TWNK | Progressive external Ophthalmoplegia | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.055 | |
| TYR | Oculocutaneous Albinism Type 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.590 | |
| TYROBP | Nasu-Hakola disease | Sequenzierung aller kodierender Exons des Gens | 342 | ||
| TYRP1 | Albinism, oculocutaneous, type III | Sequenzierung aller kodierender Exons des Gens | 1.614 | ||
| UBE3A | Angelman Syndrome | Sequenzierung aller kodierender Exons des Gens | 2.628 | ||
| UBQLN2 | Frontotemporal dementia and/or amyotrophic lateral sclerosis | Sequenzierung aller kodierender Exons des Gens | 1.875 | ||
| UNC13D | Hemophagocytic lymphohistiocytosis, familial, 3 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.273 | |
| UPK3A | Possible Association with Congenital Anomalies of the Kidney and Urogenital Tract | Sequenzierung aller kodierender Exons des Gens | 864 | ||
| UPK3A | congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT | Sequenzierung aller kodierender Exons des Gens | 864 | ||
| UPK3A | Renal adysplasia | Sequenzierung aller kodierender Exons des Gens | 864 | ||
| USH2A | Usher Syndrome Type 2A | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 15.609 | |
| USP8 | Possible association with spastic paraplegia | Sequenzierung aller kodierender Exons des Gens | 3.357 | ||
| USP8 | Spastic Paraplegia 59 | Sequenzierung aller kodierender Exons des Gens | 3.357 | ||
| VAPB | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 732 | ||
| VCAN | Wagner Syndrome | Sequenzierung aller kodierender Exons des Gens | 10.191 | ||
| VCP | Cardiac Diseases | Sequenzierung aller kodierender Exons des Gens | 2.421 | ||
| VHL | Familial Erythrocytosis 2 | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 642 | ||
| VHL | Von Hippel-Lindau Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 642 | ||
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.622 | |
| VPS13A | Chorea-acanthocytosis | Sequenzierung aller kodierender Exons des Gens | 9.525 | ||
| VPS13B | Cohen Syndrome | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 12.069 | ||
| VPS35 | Parkinson disease 17 | Sequenzierung aller kodierender Exons des Gens | 2.391 | ||
| VRK1 | Pontocerebellar Hypoplasia Type 1 | Sequenzierung aller kodierender Exons des Gens | 1.191 | ||
| WDR35 | Short-rib thoracic dysplasia 7 with or without polydactyly | Sequenzierung aller kodierender Exons des Gens | 3.546 | ||
| WDR35 | Cranioectodermal dysplasia 2 | Sequenzierung aller kodierender Exons des Gens | 3.546 | ||
| WDR45 | Neurodegeneration with brain iron accumulation (NBIA) | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.086 | |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 4.572 | |
| WDR73 | Galloway-Mowat syndrome | Sequenzierung aller kodierender Exons des Gens | 1.137 | ||
| WDR81 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | Sequenzierung aller kodierender Exons des Gens | 5.826 | ||
| WFS1 | Wolfram Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 2.673 | |
| WHSC1 | Wolf-Hirschhorn Syndrome | Sequenzierung aller kodierender Exons des Gens | 4.098 | ||
| WISP3 | Progressive Pseudorheumatoid Arthropathy of Childhood | Sequenzierung aller kodierender Exons des Gens | 1.119 | ||
| WNT4 | SERKAL syndrome | Sequenzierung aller kodierender Exons des Gens | 1.056 | ||
| WNT4 | Mullerian aplasia and hyperandrogenism | Sequenzierung aller kodierender Exons des Gens | 1.056 | ||
| XIAP | Lymphoproliferative syndrome, X-linked, 2 | Sequenzierung aller kodierender Exons des Gens | 1.494 | ||
| XK | McLeod Neuroacanthocytosis Syndrome | Sequenzierung aller kodierender Exons des Gens | 1.335 | ||
| XPR1 | Basal ganglia calcification, idiopathic, 6 | Sequenzierung aller kodierender Exons des Gens | 2.091 | ||
| XYLT1 | Desbuquois dysplasia 2 | Sequenzierung aller kodierender Exons des Gens | 2.880 | ||
| ZC4H2 | Wieacker-Wolf syndrome | Sequenzierung aller kodierender Exons des Gens | 675 | ||
| ZEB2 | Mowat Wilson Syndrome | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 3.645 | |
| ZFPM2 | Tetralogy of Fallot | Sequenzierung aller kodierender Exons des Gens | 3.456 | ||
| ZFYVE26 | Spastic Paraplegia 15 | Sequenzierung aller kodierender Exons des Gens | 7.620 | ||
| ZIC1 | Craniosynostosis 6 | Sequenzierung aller kodierender Exons des Gens | Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.344 | |
| ZIC2 | Holoprosencephaly | Sequenzierung aller kodierender Exons des Gens;Deletions-/Duplikationsanalyse (MLPA / qPCR) | 1.599 | ||
| ZIC4 | Dany Walker Malformation | Sequenzierung aller kodierender Exons des Gens | 1.155 |
Downloads
Formular Prädiktive Diagnostik
Beispielbefund Repeat Analyse
Beispielbefund Segregation Analyse
Kontaktieren Sie uns
Sie haben noch eine Frage oder Interesse an unserem Service?
Diagnostik-Support
Wir unterstützen Sie auf Wunsch bei der Auswahl der diagnostischen Strategie – für jede einzelne Patientin und jeden einzelnen Patienten.
