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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

A 7-gene panel for assessing hereditary CPVT, powered by the Helix Exome+® platform for superior coverage of arrhythmia-related variants.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

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).

View the complete description of this panel

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Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal and/or family history suggestive of a hereditary form of catecholaminergic polymorphic ventricular tachycardia. Establishing a diagnosis of catecholaminergic polymorphic ventricular tachycardia.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with hereditary forms of catecholaminergic polymorphic ventricular tachycardia (CPVT).

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesTRDN: Evaluation of Chr6:123636725 (c.22+29A>G) will be performedGenomic buildGRCh38

Genes Tested

TECRL
CALM1
CALM2
CALM3
CASQ2
RYR2
TRDN

Showing 7 of 7 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

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.