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Short QT Syndrome Panel

Panel Description

Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.

This panel evaluates 4 genes that have an established, primary association with hereditary short QT syndrome.

Genes Tested (4)


Important Panel Information

Turnaround time: 7-24 days

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Short QT syndrome (SQTS) is an electrophysiologic disorder of the heart that is characterized by an abnormally short QT-interval, as measured by electrocardiogram (ECG). This can result in abnormal heart rhythms that can cause palpitations, fainting and an increased risk of sudden cardiac death.

Hereditary forms of SQTS have been seen to follow an autosomal dominant inheritance pattern. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these unrelated conditions.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

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