CPVTNext

CPVTNextTM is a multi-gene panel for patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). It includes RYR2, in which mutations have been identified in over 50% of cases. Often, CPVT is asymptomatic and sudden death is the first symptom. Therefore, genetic testing may be the most effective way of identifying at-risk individuals or confirming a diagnosis.
Quick Reference
Test Code 8902
Turnaround Time (TAT) 14-21 days
Number of Genes 4

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Why Is This Important?

Knowing if your patient has a hereditary cardiovascular disorder can help you determine their future cardiovascular disease risks and guide your medical management recommendations. Key benefits include:

  1. Clarify diagnosis and risk for sudden cardiac arrest 
  2. Target medical management and prevention of cardiac arrest and other complications
  3. Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it 
  4. Reduce healthcare costs, resources, and anxiety for families

Mutation Detection Rate

The CPVTNext test is designed and validated to be capable of detecting >99% of described mutations in the genes represented on the tests (analytical sensitivity). The clinical sensitivity of the CPVTNext test may vary widely according to the specific clinical and family history.

Test Description

CPVTNext is a comprehensive analysis of 4 genes associated with CPVT. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing (Mu W et al. J Mol Diagn. 2016 Oct 4). This assay targets all coding domains and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed for all genes using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. Exon-level resolution may not be achieved for every gene.

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