| Test Code | 8836 |
| Turnaround Time (TAT) | 7-10 days |
| Number of Genes | 13 |
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 NowIdentifying patients with a genetic predisposition to cancer can allow informed recommendations and personalized medical management that significantly decrease cancer risks.
BRCAplus can detect >99.9% of described mutations in the included genes listed above, when present (analytic sensitivity).
Genes included on the BRCAplus test are evaluated by next generation sequencing (NGS) of the coding exons and well into the flanking 5’ and 3’ ends of the introns and untranslated regions. Variants in regions complicated by pseudogene interference, variant calls not satisfying depth of coverage and variant allele frequency quality thresholds, and potentially homozygous variants are verified by Sanger sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction.
Gross deletion/duplication analysis is performed for BRCAplus genes using a customized pipeline using a combination of third-party coverage-based tools and custom methodologies with confirmatory MLPA and/or targeted chromosomal microarray.