Deutsch
IllnessCACNA1C gene-related disorders, Timothy syndrome; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for CACNA1C gene-related disorders, differential diagnosis, comprising 6 guideline-curated genes according to the clinical signs
Timothy syndrome with/-out syndactyly
QT prolongation + arrhythmias - no other symptoms
Short QT or Brugada syndrome with short QT interval
ID
CP9230
Number of genes
6
Accredited laboratory test
Examined sequence length
19,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (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
Synonyms
- Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
- Brugada syndrome 3 (CACNA1C)
- Long QT syndrome 8 (CACNA1C)
- Timothy syndrome (CACNA1C)
- Andersen[-Tawil] syndrome (KCNJ2)
- Atrial fibrillation, familial, 10 (SCN5A)
- Atrial fibrillation, familial, 3 (KCNQ1)
- Atrial fibrillation, familial, 9 (KCNJ2)
- Brugada syndrome 1 (SCN5A)
- Heart block, nonprogressive (SCN5A)
- Heart block, progressive, type IA (SCN5A)
- Jervell and Lange-Nielsen syndrome 2 (KCNE1, KCNQ1)
- Long QT syndrome 1 (KCNQ1)
- Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
- Long QT syndrome 2 (KCNH2)
- Long QT syndrome 2, acquired, susceptibility to (KCNH2)
- Long QT syndrome 3 (SCN5A)
- Long QT syndrome 5 (KCNE1)
- Long QT syndrome 7 (KCNJ2)
- Short QT syndrome 1 (KCNH2)
- Short QT syndrome 2 (KCNQ1)
- Short QT syndrome 3 (KCNJ2)
- Sick sinus syndrome 1 (SCN5A)
- Sudden infant death syndrome, susceptibility to (SCN5A)
- Ventricular fibrillation, familial, 1 (SCN5A)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined