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.
Short QT syndrome (SQTS) is an inherited cardiac channelopathy characterised by an abnormally short QT interval and increased risk for atrial and ventricular arrhythmias.
Studies suggest a prevalence between 0.02% and 0.1% in adults while in paediatric population the prevalence is 0.05%. Lethal events may occur in both sexes, but a slight male predominance seems to exist.
SQTS is caused by pathogenic variants in the genes that encode proteins that compose ion channels, which are responsible for the currents in the heart. Gain-of-function variants in genes encoding potassium channels (KCNH2, KCNQ1 and KCNJ2) and loss-of-function variants in genes for calcium channels (CACNA1C, CACNB2) are frequently identified. SQTS is inherited in an autosomal dominant manner, such that first-degree family members have a 50% chance of inheriting the disorder.
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