Cardiology
Whole exome sequencing (WES) with in silico gene panel analysis
Clinical Report (Download a sample report here)
~3-6 weeks*.
For detailed information about the sample requirements, please consult our clinical sample requirements page.
This is the core panel for Long QT Syndrome (LQTS). We also offer an expanded panel which includes an additional 6 genes (17 genes in total). See test details for the Long QT Syndrome (LQTS)- Expanded Panel.
Long QT syndrome (LQTS) is an inherited heart rhythm problem, characterised by QT prolongation and T wave abnormalities on an ECG that is associated with tachyarrhythmias, most typically the ventricular tachycardia “torsade de pointes” (TdP). LQTS is a panethnic disorder with an estimated prevalence of around 1 in 2,500.
LQTS mainly follows an autosomal dominant pattern of inheritance, though there are also autosomal recessive forms. LQTS associated with biallelic pathogenic variants (in genes associated with autosomal dominant LQTS) or heterozygosity for pathogenic variants in two different genes (i.e., digenic pathogenic variants) is generally associated with a more severe phenotype with longer QTc interval and a higher incidence of cardiac events.
Pathogenic variants in KCNH2, KCNQ1, and SCN5A genes account for 90% of individuals with an identified molecular cause of LQTS.
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