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

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

Name	Exon Length (bp)	OMIM-G	Heredity
KCNE1	390	176261	AD, AR
KCNH2	3480	152427	AD
KCNQ1	2031	607542	AR
SCN5A	6051	600163	AD
KCNE2	372	603796	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

I45.8

Bioinformatics and clinical interpretation

No text defined