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  • Test code: 02213
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel

Test description

The Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel is for individuals with a clinical diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). This panel analyzes 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.

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Primary panel (7 genes)

CALM1 CALM2 CALM3 CASQ2 KCNJ2 RYR2 TRDN

Alternative tests to consider

  • Catecholaminergic Polymorphic Ventricular Tachycardia

To view the complete clinical description of this panel, click here.

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.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
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