IllnessShort-QT syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Short-QT syndrome comprising 6 guideline-curated genes and altogether 9 curated genes according to the clinical signs
ID
SP0810
Number of genes
8
Accredited laboratory test
Examined sequence length
22,1 kb (Core-/Core-canditate-Genes)
28,1 kb (Extended panel: incl. additional genes)
28,1 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
Short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia
Synonyms
- Alias: Familial short QT syndrome (SQTS)
- Allelic: Andersen syndrome (KCNJ2)
- Allelic: Atrial fibrillation, familial, 10 (SCN5A)
- Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
- Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
- Allelic: Brugada syndrome 3 (CACNA1C)
- Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Jervell + Lange-Nielsen syndrome (KCNQ1)
- 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 8 (CACNA1C)
- Allelic: Sick sinus syndrome 1 (SCN5A)
- Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
- Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
- Brugada syndrome 1 (SCN5A)
- Brugada syndrome 4 (CACNB2)
- Carnitine deficiency, systemic primary (SLC22A5)
- Short QT syndrome 1 (KCNH2)
- Short QT syndrome 2 (KCNQ1)
- Short QT syndrome 3 (KCNJ2)
- Short QT syndrome 6 (CACNA2D1)
- Short QT syndrome [likely] SLC4A3)
- Timothy syndrome (CACNA1C)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined