| Purpose | BGI provides targeted and affordable testing of BRCA1 and BRCA2 (responsible for ~25% of hereditary breast cancer and ~15% of hereditary ovarian cancer) along with analysis of extended gene panel i.e. 24 genes associated with an increased risk of hereditary breast and ovarian cancers.Genes: BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, NF1, EPCAM, SMARCA4, CDK12.. |
| Test Code | DX0647 |
| Turnaround Time (TAT) | 20 Days |
| Sample Tested | SENTIS™ Hereditary Breast and Ovarian Cancer Test- 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 | - •HW2118
- DNA Extraction and QC.
- Targeted Capture of 26 genes (including BRCA1 & BRCA2) associated with hereditary Breast and Ovarian Cancers..
- Identification of pathogenic mutations in 26 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 all genes tested (24 genes + BRCA1+ BRCA2); one single assay that detects point mutations, deletions, insertions, duplications, rearrangements.
- A streamlined sample-to-results workflow with MGI’s platform and automated on-premises NGS bioinformatics system, enabling effortless obtainment of insightful reports from samples.
- State-of-the-art variant database ensures up-to-date analysis and interpretation.
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