| Test Code | 9520 |
| Turnaround Time (TAT) | 14-21 days |
| Number of Genes | 167 |
We offer family variant testing 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. Testing must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.
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 CustomNext-Cardio test is designed and validated to be capable of detecting ~99% of described mutations in the 167 orderable genes on the test (analytical sensitivity). The clinical sensitivity of the CustomNext-Cardio test may vary widely according to the specific clinical and family history.
CustomNext-Cardio is a customizable screen of up to 167 genes associated with inherited cardiovascular diseases. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized methodology 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. All selected genes are evaluated by NGS or Sanger sequencing of 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 (excluding CBS and TNXB exons 32-44) using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. For TTN, only truncating variants are routinely reported.1 Exon-level resolution may not be achieved for every gene.
1. Morales et al. Circ Genom Precis Med. 2020 Apr; 12(2).