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GenetischePanel-Diagnostik

ErkrankungKammerflimmern, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kammerflimmern mit zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP4939
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,0 kb (Core-/Basis-Gene)
64,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
RYR214904AD
SCN5A6051AD und/oder AR und/oder Dig
CACNA1C6417AD
CALM1450AD
CALM2450AR
CALM3450AR
CASQ21200AR
DES1413AD und/oder AR
DSC22706AD und/oder AR
DSG23357AD
DSP8616AD und/oder AR und/oder Dig
JUP2238AD und/oder AR und/oder Dig
KCNE1390AD und/oder AR und/oder Dig
KCNE2372AR und/oder Dig
KCNH23480AD und/oder Dig
KCNJ21284AD
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
LMNA1995AD und/oder AR und/oder Dig
PKP22646AD
PLN159AD
TMEM431203AD
TRDN2190AR

Infos zur Erkrankung

Synonyme
  • Alias: Idiopathic ventricular fibrillation
  • Alias: Kammerflimmern, familiäres paroxysmales (nicht Brugada-Typ)
  • Alleic: Skin fragility-woolly hair syndrome (DDSP)
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Mandibuloacral dysplasia (LMN)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 11 (DSC2)
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma+ woolly hair (DSC2)
  • Arrhythmogenic right ventricular dysplasia 12 (JUP)
  • Arrhythmogenic right ventricular dysplasia 2 (RYR2)
  • Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 4 (KCNE2)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1P (PLN)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Jervell + Lange-Nielsen syndrome 2 (KCNE1)
  • Long QT syndrome 1 (KCNQ1)
  • Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Long QT syndrome 14 (CALM1)
  • Long QT syndrome 15 (CALM2)
  • Long QT syndrome 16 (CALM3)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 5 (KCNE1)
  • Long QT syndrome 6 (KCNE2)
  • Long QT syndrome 8 (CACNA1C)
  • Malouf syndrome (LMN)
  • Naxos disease (JUP)
  • Salih myopathy (TTN)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)(SCN5A)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic 6 (CALM3)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder Dig
  • AR
  • AR und/oder Dig
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I49.0

Bioinformatik und klinische Interpretation

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