©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEarly repolarisation syndrome(s); differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Repolarisation syndrome comprising 8 curated genes

ID
RP5994
Number of genes
8 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
31,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCC94650NM_005691.4AD
CACNA1C6417NM_000719.7AD
CACNA2D13276NM_000722.4AD
CACNB21821NM_201590.3AD
KCND31968NM_004980.5AD
KCNJ81275NM_004982.4AD
SCN10A5871NM_006514.4AD
SCN5A6051NM_198056.3AD

Informations about the disease

Synonyms
  • Alias: Frühes Repolarisierungssyndrom (ERS)
  • Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
  • Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
  • Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
  • Allelic: Spinocerebellar ataxia 19 (KCND3)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 12 (ABCC9)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 9 (KCND3)
  • Cantu syndrome [Hypertrichotic osteochondrodysplasia] (KCNJ8)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1O (ABCC9)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 8 (CACNA1C)
  • Short QT syndrome 6 (CACNB2)
  • Short QT syndrome 6Short QT syndrome 6 [panelapp] (CACNA2D1)
  • Sick sinus syndrome 1 (SCN5A)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Ventricular fibrillation, familial, 1 (SCN5A)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined