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GenetischePanel-Diagnostik

ErkrankungErregungsleitungsstörungen, kardiale

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für kardiale Erregungsleitungsstörungen mit 11 (3 Leitlinien-kuratierten) bzw. zusammen genommen 15 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
EP9594
Anzahl Gene
15 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,0 kb (Core-/Basis-Gene)
30,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DES1413AD und/oder AR
EMD765XLR
GLA1290XL and/or Mult
HCN43612AD
LAMP21233XLD
LMNA1995AD und/oder AR und/oder Dig
NKX2-5975AD
PRKAG21710AD
SCN5A6051AD und/oder AR und/oder Dig
TNNI3K2508AD
TTR444AD
CLCA22832AD
SCN1B657AD und/oder AR
TBX51557AD
TRPM43645AD

Infos zur Erkrankung

Synonyme
  • Alias: Conduction disorder/defect
  • Alias: Disturbance of conduction
  • Alias: Idiopathische Erregungsleitungsstörungen
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Conotruncal heart malformations, variable (NKX2-5)
  • Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
  • Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
  • Allelic: Fabry disease (GLA)
  • Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
  • Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Tetralogy of Fallot (NKX2-5)
  • Allelic: Ventricular septal defect 3 (NKX2-5)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 13 (SCN1B)
  • Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 5 (SCN1B)
  • Brugada syndrome 8 (HCN4)
  • Cardiac conduction defect, nonspecific (SCN1B)
  • Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Danon disease (LAMP2)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Fabry disease, cardiac variant (GLA)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Heart conduction disease [panelapp] (CLCA2)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Holt-Oram syndrome (TBX5)
  • Long QT syndrome 3 (SCN5A)
  • Malouf syndrome (LMNA)
  • Progressive familial heart block, type IB (TRPM4)
  • Sick sinus syndrome 1 (SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Wolff-Parkinson-White syndrome (PRKAG2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • XL and/or Mult
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I45.8

Bioinformatik und klinische Interpretation

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