Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Cardiovascular Genetics

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

The Catecholaminergic Polymorphic Ventricular Tachycardia Panel examines 9 genes associated with hereditary catecholaminergic polymorphic ventricular tachycardia (CPVT).

Price: $600.00

Test Details

The Catecholaminergic Polymorphic Ventricular Tachycardia Panel examines 9 genes associated with hereditary catecholaminergic polymorphic ventricular tachycardia (CPVT).

9 Genes

ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, KCNQ1, RYR2, TRDN

Patients with a personal and/or family history suggestive of CPVT. CPVT is defined by ventricular rhythm problems, including bidirectional and polymorphic ventricular tachycardia and ventricular fibrillation. Red flags for CPVT can include, but are not limited to, light-headedness, dizziness, fainting, seizures, unexplained cardiac arrest, or sudden death, especially during exercise. Symptoms typically begin in childhood.

Patients identified with CPVT can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include beta blockers, calcium channel-blockers, and lifestyle changes. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

  • Next-Generation  Sequencing
  • Deletion/Duplication Analysis

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Buccal Swab

3 – 5 weeks

  1. Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011)
  2. Kim, J.B. Channelopathies. Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. (2014)
  3. Napolitano, C., Priori, S.G., Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2016 Oct 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle (1993-2017)