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 6 curated genes according to the clinical signs

JP0810

Number of genes

4 Accredited laboratory test

Examined sequence length

12,0 kb (Core-/Core-canditate-Genes)
- (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	Referenz-Seq.	Heredity
KCNE1	390	176261	NM_000219.6	AD, AR
KCNH2	3480	152427	NM_000238.4	AD
KCNQ1	2031	607542	NM_000218.3	AR
SCN5A	6051	600163	NM_198056.3	AD, AR

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

Bioinformatics and clinical interpretation

No text defined