Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel


Test description

This test is for individuals with a clinical diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). The Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel analyzes eight genes that are definitively associated with CPVT or other inherited arrhythmia disorders that can present with clinical features similar to CPVT.

Individuals with clinical symptoms of CPVT may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known pathogenic variant may also benefit by avoiding activities that can trigger symptoms.

Order test

Primary panel (8 genes)


Alternative tests to consider

CPVT syndrome can also be ordered as part of broader panels to test for arrhythmia disorders. Depending on the individual’s clinical and family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered at no additional charge.

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary arrhythmia that can cause syncope (fainting) and sudden cardiac arrest. Symptoms are caused by a fast ventricular arrhythmia that may terminate spontaneously or turn into ventricular fibrillation.

Episodes of arrhythmia frequently occur during exercise or acute emotional stress. The electrocardiogram (ECG) is usually normal at rest, and a stress test is typically used to identify ventricular arrhythmia during exercise.

This test covers all the common genetic causes of CPVT. Analysis of the genes on this panel is expected to uncover a pathogenic variant in up to 65% of clinical cases of ARVC. Approximately 50%-60% of individuals with a clinical diagnosis of CPVT have a pathogenic variant in the RYR2 gene. An additional 3%-5% of individuals are found to have two pathogenic variants in the CASQ2 gene. The remaining genes in this test account for an unknown percentage of CPVT cases.

CPVT is most commonly inherited in an autosomal dominant pattern. However, as many as 40% of cases occur because of spontaneous de novo variants in the RYR2 gene. CASQ2-related CPVT and TDRN-related CPVT are autosomal recessive.

CPVT exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop CPVT will go on to manifest the disorder. The age of onset varies, but symptoms frequently present in childhood between ages 7 and 12 years. When untreated, up to 80% of individuals will experience syncope in their lifetimes and an estimated 30% will experience sudden cardiac arrest.

The prevalence of CPVT is not well established but is an estimated 1 in 10,000 individuals.

This test may be considered for individuals with:

  • arrhythmia consistent with a diagnosis of CPVT
  • unexplained cardiac arrest, particularly in individuals <40 years of age

For links to published management guidelines for cardiology conditions, please refer to our Management guidelines page.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ANK2 NM_001148.4
CALM1 NM_006888.4
CALM2 NM_001743.4
CALM3 NM_005184.2
CASQ2 NM_001232.3
KCNJ2 NM_000891.2
RYR2 NM_001035.2
TRDN NM_006073.3