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 function of ion channels, that are responsible for the currents in the heart.