BRCAplus
Use
BRCAplus is a guideline-based test option which includes genes known to have clinical management recommendations and treatment decisions for hereditary breast cancer predisposition. Identifying patients with a genetic predisposition to cancer allows for informed recommendations and personalized medical management that significantly decrease cancer risks. Tailored treatments such as PARP inhibitors for BRCA1/BRCA2 mutations and early detection through modified screening strategies can be employed.
Special Instructions
Not provided.
Limitations
BRCAplus can detect >99.9% of described mutations in the included genes listed above when present. However, 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 reported, but intronic variants of uncertain or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction.
Methodology
NGS
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Use Ambry provided kits to submit blood or saliva samples.
Causes for Rejection
Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant cannot be used. Alternative specimens may be needed for patients with active hematological disease.
Other tests from different labs that may be relevant