The coding exons and flanking consensus splice sites of the BRCA1 or BRCA2 gene is amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
BRCA1 or BRCA2 gene sequencing can be performed on a patient who has a family history or is suspected of having breast, ovarian, prostate, or pancreatic cancer or for determining a genetic mutation for a patient with a clinical diagnosis of one of these cancers. Individuals with BRCA2 mutations may also be at an increased risk for melanoma. Germline mutations in the BRCA2 gene are associated with an increased risk for these cancers. Incomplete penetrance as well as variable expressivity, variable age of onset and a wide-range of risk estimate have been reported in multiple families with BRCA1 and BRCA2 germline mutations (Levy-Lahad et al. Proc Natl Acad Sci 98:3232-3236, 2001; Antoniou et al. Am J Hum Genet 82:937-948, 2008).The lifetime risk for an individual with a pathogenic germline mutation in BRCA1 or BRCA2 has been estimated to be 40-80% for breast cancer and 11-40% for ovarian cancer. See http://www.ncbi.nlm.nih.gov/books/NBK1247/ for additional information.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This assay will not detect large deletions in the BRCA1 or BRCA2 gene or intronic mutations outside the region sequenced in the BRCA1 or BRCA2 gene.
10 - 28 days (most tests signed out within 10 days after insurance authorization is received).
- Hereditary Breast and Ovarian Cancer (HBOC) Risk
- BRCA1 and BRCA2 Gene Mutation
- BRCA Tier 1
- BRCA1 Gene Sequencing
- BRCA2 Gene Sequencing
- Breast Cancer
- Ovarian Cancer
- Pancreatic Cancer
- Prostate Cancer
Please specify BRCA1 Gene Sequencing (BRCA1), BRCA2 Gene Sequencing (BRCA2), or both BRCA1 and BRCA2 Gene Sequencing (BRC1). Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
Most insurance carriers require prior authorization for payment. BRCA testing will not begin until insurance prior authorization is received by the MMGL Laboratory or it has been confirmed that prior authorization is not required. It is the obligation of the ordering health care provider to obtain prior authorization before testing can begin. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for HAP refer to CareAffiliate via www.hap.org; for all others, contact the plan directly. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting Mlabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.