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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CACNA1C6417NM_000719.7AD
CACNA2D13276NM_000722.4AD
CACNB21821NM_201590.3AD
KCNH23480NM_000238.4AD
KCNJ21284NM_000891.3AD
KCNQ12031NM_000218.3AD
SLC4A33699NM_005070.4AD
SCN5A6051NM_198056.3AD

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