10 - 28 days (most tests signed out within 10 days after insurance authorization is received).
BRAC2 gene c.5946delT (BIC: 6174delT)
BRCA1 gene c.68_69delAG (BIC: 185delAG)
BRCA1 gene c.5266dupC (BIC: 5382insC)
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….