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Klinische FragestellungBradyarrythmie, kardiale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes Leitlinien-kuratiertes panel mit 18 Genen für Bradyarrythmie, kardiale [bzw. Schrittmacher-Implantation] gemäß der klinischen Symptomatik

ID
BP3752
Anzahl Gene
5 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,6 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
CASQ21200NM_001232.4AR
HCN43612NM_005477.3AD
LMNA1995NM_170707.4AD
MYH75808NM_000257.4AD, AR
RYR214904NM_001035.3AD

Infos zur Erkrankung

Synonyme
  • Alias: Atrioventricular junction conduction disturbances included
  • Alias: Intraventricular conduction disturbances included
  • Alias: Sinus bradycardia, sinus pause included
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
  • Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
  • Allelic: Erythrokeratodermia variabilis et progressiva 6 (TRPM4)
  • Allelic: Generalized epilepsy with febrile seizures plus, type 1 (SCN1B)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Holt-Oram syndrome (TBX5)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 25 (BVES)
  • Allelic: Myopathy, myosin storage, AD (MYH7)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
  • Allelic: Restrictive dermopathy 2 (LMNA)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 2 (RYR2)
  • Atrial fibrillation [ESC guidelines] (MYH6)
  • Atrial fibrillation [ESC guidelines] (MYH7)
  • Atrial fibrillation [ESC guidelines] (SCN10A?)
  • Atrial fibrillation [ESC guidelines] (TBX5)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 11 (GJA5)
  • Atrial fibrillation, familial, 13 (SCN1B)
  • Atrial fibrillation, familial, 6 (NPPA)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Atrial septal defect 3 (MYH6)
  • Atrial septal defect 3 [ESC guidelines] (TBX5)
  • Atrial standstill 2 (NPPA)
  • Atrial standstill, digenic (GJA5/SCN5A)
  • Atrioventricular block [ESC guidelines] (BVES)
  • Atrioventricular block [ESC guidelines] (GJA5)
  • Atrioventricular block [ESC guidelines] (KCNK17)
  • Atrioventricular block [ESC guidelines] (LMNA)
  • Atrioventricular block [ESC guidelines] (POPDC2)
  • Atrioventricular block [ESC guidelines] (SCN5A)
  • Atrioventricular block [ESC guidelines] (TBX5)
  • Atrioventricular block [ESC guidelines] (TRPM4)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 5 (SCN1B)
  • Brugada syndrome 8 (HCN4)
  • Bundle branch block [ESC guidelines] (KCNK17)
  • Bundle branch block [ESC guidelines] (SCN1B)
  • Bundle branch block [ESC guidelines] (TRPM4)
  • Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Cardiac conduction defect, nonspecific (SCN1B)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 4 (ANK2)
  • Progressive cardiac conduction defect [ESC guidelines] (KCNK17)
  • Progressive cardiac conduction defect [ESC guidelines] (LMNA)
  • Progressive cardiac conduction defect [ESC guidelines] (TRPM4)
  • Progressive familial heart block, type IB (TRPM4)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Sick sinus syndrome 3 (MYH6)
  • Sinoatrial node dysfunction + deafness (CACNA1D)
  • Sinus bradycardia [ESC guidelines] (LMNA)
  • Sinus bradycardia [ESC guidelines] (MYH7)
  • Sinus bradycardia [ESC guidelines] (RYR2)
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (RYR2)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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