| Test Code | 8902 |
| Turnaround Time (TAT) | 14-21 days |
| Number of Genes | 4 |
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.
Order NowKnowing 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:
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.
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. 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.