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

IllnessJervell- + Lange-Nielsen syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Jervell- and Lange-Nielsen syndrome comprising 4 guideline-curated genes and altogether 7 curated genes according to the clinical signs

ID
JP0810
Number of genes
5 Accredited laboratory test
Examined sequence length
12,0 kb (Core-/Core-canditate-Genes)
12,4 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
KCNE1390AD, AR
KCNH23480AD
KCNQ12031AR
SCN5A6051AD
KCNE2372AD

Informations about the disease

Clinical Comment

Variant of familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, long QT interval on electrocardiogram + ventricular tachyarrhythmias

 

Synonyms
  • Allelic: Atrial fibrillation, familial, (KCNQ1)
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial fibrillation, familial, 4 (KCNE2)
  • Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Brugada syndrome 3 (CACNA1C)
  • Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Long QT syndrome 1 (KCNQ1)
  • Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Allelic: Long QT syndrome 2 (KCNH2)
  • Allelic: Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 5 (KCNE1)
  • Allelic: Long QT syndrome 6 (KCNE2)
  • Allelic: Long QT syndrome 8 (CACNA1C)
  • Allelic: Short QT syndrome 1 (KCNH2)
  • Allelic: Short QT syndrome 2 (KCNQ1)
  • Allelic: Short QT syndrome 3 (KCNJ2)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
  • Andersen[-Tawil] syndrome, periodic paralysis, K-sensitive cardiorhythmic type (KCNJ2)
  • Deafness, congenital, functional heart disease
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Jervell + Lange-Nielsen syndrome 2 (KCNE1)
  • Timothy syndrome (CACNA1C)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I45.8

Bioinformatics and clinical interpretation

No text defined