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 are associated with tachyarrhythmias, most typically the ventricular tachycardia torsade de pointes (TdP).
The prevalence of LQTS is estimated to be 1 in 2,500 and occurs across all ethnic groups.
Approximately 75% of LQTS cases are caused by pathogenic variants in one of 15 known genes, most frequently with autosomal dominant inheritance, though there are also recessive forms.