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)
12,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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