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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFibrillation, ventricular II; dufferential diagnosis expanded

Summary

Short information

Comprehensive differential diagnostic panel for Ventricular Fibrillation comprising 12 core and core candidate genes as well as altogether 50 curated genes according to the clinical signs

ID
KP3940
Number of genes
15 Accredited laboratory test
Examined sequence length
35,0 kb (Core-/Core-canditate-Genes)
55,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CACNA1C6417AD
DSG23357AD
KCNQ12031AD
LMNA1995AD
PLN159AD
RYR214904AD
SCN5A6051AD
CALM2450AR
DSC22706AD
DSP8616AD, AR
KCNE1390AD, AR
KCNH23480AD
KCNJ21284AD
TMEM431203AD
TRDN2190AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I49.0

Bioinformatics and clinical interpretation

No text defined