Catecholaminergic polymorphic ventricular tachycardia

Diagnosis and Testing

What's involved in genetic testing for catecholaminergic polymorphic ventricular tachycardia?

Genetic testing is available for catecholaminergic polymorphic ventricular tachycardia (CPVT). Please consult with your primary care physician and insurance provider to determine if a referral is needed to speak to a genetic counselor.

Molecular genetic testing can include single-gene, multigene panel, gene sequencing options.

Single-gene testing

  • The RYR2 gene is recommended for the "first line" of testing, as it contributes to 50-55% of mutations found in individuals diagnosed with CPVT.
  • Sequencing of the RYR2 gene can be completed first, followed by CASQ2 sequencing if no disease-causing mutations are found.
  • CALM1 and TRDN can be sequenced if no mutations are found in CASQ2, however these genes are rare causes of the condition.
  • Deletion/duplication analysis is also an option for single-gene testing. This type of analysis looks at regions of DNA that are not looked at with sequencing analysis.
  • As with sequencing analysis, RYR2 is recommended for deletion/duplication analysis first, followed by CASQ2, CALM1, and TRDN if no mutations are found.

Multigene panel

  • Multiple genes can be tested at one time.
  • Panels for CPVT include the RYR2, CASQ2, CALM1, and TRDN genes, as well as genes considered for other conditions that may present similarly to CPVT.
  • Genes in the panel and sensitivity of the testing may range depending on the lab. Please consult with a genetic counselor to determine which lab is most appropriate for you.

Additional sequencing options

  • Exome sequencing - sequences regions of DNA that code for a functional purpose.
  • Genome sequencing - sequences regions of both coding and non-coding DNA.
  • These testing options can be used to confirm a diagnosis of CPVT if single-gene and multigene panels do not find a mutation.
  • However, sequencing large amounts of DNA can suggest a different diagnosis or inconclusive results.

Physical evaluation can also be used for a clinical diagnosis. Please refer to the "Diagnosis" section of this condition for more information.

Please consult with your doctor of any immediate health concerns. To find a genetic counselor in the United States, please visit the Find a Genetic Counselor page on the National Society of Genetic Counselors website.

Napolitano, C., Priori, S. G., Bloise, R. (2016). Catecholaminergic polymorphic ventricular tachycardia. Gene Reviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1289.

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