ARVCNextTM is a targeted panel for patients with arrhythmogenic right ventricular cardiomyopathy (ARVC).  Often, ARVC 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 8904
Turnaround Time (TAT) 4-5 weeks
Number of Genes 9

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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. Adjust management in those with ARVC due to conditions like Naxos disease and Carvajal syndrome
  4. Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  5. Reduce healthcare costs, resources, and anxiety for families

When To Consider Testing

  • Patients has a definite, borderline or possible diagnosis of ARVC
  • Patients has a first-degree relative with a definite diagnosis of ARVC
  • Patients has a first-degree relative with ARVC confirmed pathologically at autopsy or during surgery
  • Patients has a first-degree relative with borderline/possible ARVC and a family history of sudden death before 35 years of age

Mutation Detection Rate

50-60% of patients with a diagnosis of ARVC have a mutation in one of the ARVCNext genes (clinical sensitivity). ARVCNext can find >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

ARVCNext includes 9 genes associated with ARVC (listed above).  These genes are also included in the comprehensive inherited cardiomyopathy (CMNext), inherited arrhythmia (RhythmNext), and cardiovascular genetics (CardioNext) panels. 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, followed by polymerase chain reaction (PCR) and NGS. 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. 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 for available genes is performed using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable.

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