| Purpose | BGI provides targeted and affordable BRCA1 and BRCA2 testing. BGI’s CAP-certified Sentis BRCA Test provides assurance of not missing a single pathogenic variant. Germline mutations in BRCA1 and BRCA2 genes have been associated with an increased risk of breast and ovarian cancer. Approximately 25% of hereditary breast cancer cases are caused by BRCA1 and BRCA2 mutations and around 10% of all breast cancers. Mutations in BRCA1 and BRCA2 account for around 15% of ovarian cancers overall.Genes: BRCA1 & BRCA2 |
| Test Code | DX0648 |
| Turnaround Time (TAT) | 20 Days |
| Sample Tested | SENTIS™ BRCA (2 genes) BRCA1, BRCA2- 5mL of peripheral blood OR 2mL of saliva OR ≥3µg good quality DNA
- This test is designed to detect individuals with a germline pathogenic variant, and is not validated to detect mosaicism. It should not be ordered on tumor tissue.
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| Methodology | - HW2117
- DNA Extraction and QC.
- Targeted Capture of BRCA1 (responsible for ~15% of hereditary ovarian cancer) genes (BRCA1 & BRCA2) associated with hereditary Breast and Ovarian Cancers.
- Identification of pathogenic mutations in 2 genes relevant to both hereditary breast and ovarian cancers.
- Reports having information for targeted drugs (Precision Medicine)..
- Genetic Counselling.
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| Advantages | - All exons plus flanking intronic regions covered for two genes tested (BRCA1+ BRCA2); one single assay that detects point mutations, deletions, insertions, duplications, rearrangements.
- BGI’s CAP-certified Sentis BRCA Test provides assurance of not missing a single pathogenic variant..
- Clinically important (pathogenic or likely pathogenic) variants are verified by Sanger Sequencing while large gene rearrangements are verified by qPCR.
- State-of-the-art variant database ensures up-to-date analysis and interpretation.
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