©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungKammerflimmern II, Differentialdiagnose erweitert

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kammerflimmern mit 12 "core"- und "core candidate"-Genen sowie zusammen genommen 50 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP3940
Anzahl Gene
15 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,0 kb (Core-/Basis-Gene)
55,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CACNA1C6417AD
DSG23357AD
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
LMNA1995AD und/oder AR und/oder Dig
PLN159AD
RYR214904AD
SCN5A6051AD und/oder AR und/oder Dig
CALM2450AR
DSC22706AD und/oder AR
DSP8616AD und/oder AR und/oder Dig
KCNE1390AD und/oder AR und/oder Dig
KCNH23480AD und/oder Dig
KCNJ21284AD
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: Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial septal defect 3 (MYH6)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Attention deficit-hyperactivity disorder 8 (CDH2)
  • 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: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • 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: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Allelic: Intellectual disability + myopathy syndrome (ABCC9)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Mandibuloacral dysplasia (LMN)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 6 (SGCD)
  • Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
  • 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: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
  • Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal myopathy, XLD (FHL1)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Alstrom syndrome (ALMS1)
  • 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)
  • Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 12 (ABCC9)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 4 (KCNE2)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Becker muscular dystrophy (DMD)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 8 (HCN4)
  • Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cardiomyopathy [panelapp] (PDLIM3)
  • 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, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1HH (BAG3)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1L (SGCD)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1NN (RAF1)
  • Cardiomyopathy, dilated, 1O (ABCC9)
  • Cardiomyopathy, dilated, 1P (PLN)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, familial hypertrophic, 28 (FHOD3)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive 5 (FLNC)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Cardiomyopathy, hypertrophic, 20 (NEXN)
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Duchenne muscular dystrophy (DMD)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
  • 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)
  • Juvenile myelomonocytic leukemia (CBL)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • 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)
  • Mitochondrial complex IV deficiency, nuclear type 13 (COA6)
  • Naxos disease (JUP)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Salih myopathy (TTN)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)(SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Sick sinus syndrome 3 (MYH6)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Uruguay faciocardiomusculoskeletal syndrome (FHL1)
  • 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)
  • Watson syndrome (NF1)
  • 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

Kein Text hinterlegt