Targeted sequencing of the BRCA1 and BRCA2 genes is performed by amplifying the regions containing these founder mutations using specific primers, and bidirectionally sequencing them using a fluorescent method.
Three Ashkenazi Jewish founder mutations can be detected by this targeted sequencing assay: BRCA1 gene c.68_69delAG (BIC: 185delAG) and c.5266dupC (BIC: 5382insC) and one in BRCA2 c.5946delT (BIC: 6174delT). Note: MMGL will report out these mutations using the current Human Genome Variation Society (HGVS) naming guidelines instead of the previous nomenclature determined by Breast Cancer Information Core (BIC).
Interpretive report provided.
This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of BRCA1 or BRCA2 that are not covered by this targeted test, and cannot detect mutations in other genes associated with hereditary breast and ovarian cancer. This assay may not detect large deletion or duplication mutations and balanced translocations involving BRCA1 or BRCA2 genes.
10 - 28 days (most tests signed out within 10 days after insurance authorization is received).
- BRAC2 gene c.5946delT (BIC: 6174delT)
- Breast Cancer
- BRCA1 gene c.68_69delAG (BIC: 185delAG)
- BRCA1 gene c.5266dupC (BIC: 5382insC)
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.