Klinische FragestellungKammerflimmern I, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kammerflimmern mit 12 "core"- und "core candidate"-Genen sowie zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP4939
Anzahl Gene
23
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
52,8 kb (Core-/Core-canditate-Gene)
179,8 kb (Erweitertes Panel: inkl. additional genes)
179,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CACNA1C | 6417 | NM_000719.7 | AD | |
DSG2 | 3357 | NM_001943.5 | AD | |
FLNC | 8178 | NM_001458.5 | AD | |
KCNQ1 | 2031 | NM_000218.3 | AD | |
LMNA | 1995 | NM_170707.4 | AD | |
MYBPC3 | 3825 | NM_000256.3 | AD, AR | |
MYH7 | 5808 | NM_000257.4 | AD | |
PLN | 159 | NM_002667.5 | AD | |
RYR2 | 14904 | NM_001035.3 | AD | |
SCN5A | 6051 | NM_198056.3 | AD | |
ACTC1 | 1134 | NM_005159.5 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
BAG3 | 1728 | NM_004281.4 | AD | |
CALM2 | 450 | NM_001743.6 | AD | |
DSC2 | 2706 | NM_024422.6 | AD, AR | |
DSP | 8616 | NM_004415.4 | AD, AR | |
KCNE1 | 390 | NM_000219.6 | AD, AR | |
KCNH2 | 3480 | NM_000238.4 | AD | |
KCNJ2 | 1284 | NM_000891.3 | AD | |
TMEM43 | 1203 | NM_024334.3 | AD | |
TPM1 | 855 | NM_001018005.2 | AD | |
TRDN | 2190 | NM_006073.4 | AR | |
TTN | 100272 | NM_001267550.2 | n.k. |
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
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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