ARVCNext™ 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.
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Test Code 8904
Turnaround Time (TAT) 14-21 days
Number of Genes 11

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

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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

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

Test Description

ARVCNext is a comprehensive analysis of 11 genes associated with ARVC. 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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality 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 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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