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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).

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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 notes

TRDN: Evaluation of Chr6:123636725 (c.22+29A>G) will be performed

Genomic build

GRCh38

Genes Tested

TECRL
CALM1
CALM2
CALM3
CASQ2
RYR2
TRDN

Showing 7 of 7 genes in this panel

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