ErkrankungKammerflimmern I, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kammerflimmern mit zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP4939
Anzahl Gene
15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,0 kb (Core-/Basis-Gene)
55,3 kb (Erweitertes Panel)
55,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CACNA1C | 6417 | AD | |
DSG2 | 3357 | AD | |
KCNQ1 | 2031 | AD und/oder AR und/oder Dig und/oder Sus | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
PLN | 159 | AD | |
RYR2 | 14904 | AD | |
SCN5A | 6051 | AD und/oder AR und/oder Dig | |
CALM2 | 450 | AR | |
DSC2 | 2706 | AD und/oder AR | |
DSP | 8616 | AD und/oder AR und/oder Dig | |
KCNE1 | 390 | AD und/oder AR und/oder Dig | |
KCNH2 | 3480 | AD und/oder Dig | |
KCNJ2 | 1284 | AD | |
TMEM43 | 1203 | AD | |
TRDN | 2190 | AR |
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: Atrial septal defect 5 (ACTC1)
- 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: Glycogen storage disease of heart, lethal congenital (PRKAG2)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Keratosis palmoplantaris striata II (DSP)
- Allelic: Laing distal myopathy (MYH7)
- 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, congenital with structured cores and Z-line abnormalities (ACTN2)
- Allelic: Myopathy, distal, 4 (FLNC)
- Allelic: Myopathy, distal, 6, adult onset (ACTN2)
- Allelic: Myopathy, myofibrillar, 1 (DES)
- Allelic: Myopathy, myofibrillar, 5 (FLNC)
- Allelic: Myopathy, myofibrillar, 6 (BAG3)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myopathy, myosin storage, AD (MYH7)
- Allelic: Myopathy, myosin storage, AR (MYH7)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- 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)
- Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
- Cardiomyopathy, dilated, 1A (LMNA)
- Cardiomyopathy, dilated, 1AA, with or without LVNC (ACTN2)
- Cardiomyopathy, dilated, 1BB (DSG2)
- Cardiomyopathy, dilated, 1CC (NEXN)
- Cardiomyopathy, dilated, 1DD (RBM20)
- Cardiomyopathy, dilated, 1E (SCN5A)
- Cardiomyopathy, dilated, 1G (TTN)
- Cardiomyopathy, dilated, 1HH (BAG3)
- Cardiomyopathy, dilated, 1I (DES)
- Cardiomyopathy, dilated, 1MM (MYBPC3)
- Cardiomyopathy, dilated, 1P (PLN)
- Cardiomyopathy, dilated, 1R (ACTC1)
- Cardiomyopathy, dilated, 1S (MYH7)
- Cardiomyopathy, dilated, 1Y (TPM1)
- Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
- Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Cardiomyopathy, familial restrictive 5 (FLNC)
- Cardiomyopathy, hypertrophic 6 (PRKAG2)
- Cardiomyopathy, hypertrophic, 1 (MYH7)
- Cardiomyopathy, hypertrophic, 11 (ACTC1)
- Cardiomyopathy, hypertrophic, 18 (PLN)
- Cardiomyopathy, hypertrophic, 20 (NEXN)
- Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
- Cardiomyopathy, hypertrophic, 3 (TPM1)
- Cardiomyopathy, hypertrophic, 4 (MYBPC3)
- 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)
- Left ventricular noncompaction 10 (MYBPC3)
- Left ventricular noncompaction 4 (ACTC1)
- Left ventricular noncompaction 5 (MYH7)
- Left ventricular noncompaction 9 (TPM1)
- 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)
- Wolff-Parkinson-White syndrome (PRKAG2)
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
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I49.0
Bioinformatik und klinische Interpretation
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