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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) 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 7 genes that have an established, primary association with hereditary catecholaminergic polymorphic ventricular tachycardia (CPVT).

Genes Tested (7)


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.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an electrophysiologic disorder of the heart which predisposes those affected to develop arrhythmias. While patients with CPVT often have normal resting electrocardiograms (ECGs) and normal heart imaging, both exercise and emotional stress can risk development of arrhythmogenic events (commonly ventricular tachycardia) which may result in syncope or, in rare cases, cardiac arrest or sudden death.

Hereditary forms of CPVT may follow autosomal dominant or autosomal recessive inheritance patterns. 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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