Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Establishing a diagnosis of hereditary breast and ovarian cancer (HBOC) in patients of Ashkenazi Jewish ancestry
This test utilizes targeted next-generation sequencing to detect the 3 Ashkenazi Jewish founder mutations, c.68_69delAG and c.5266dupC in BRCA1, and c.5946delT in BRCA2. These are also well-known by their previous nomenclature: c.185delAG and c.5385insC in BRCA1, and c.6174delT in BRCA2. Sanger sequencing may also be performed to confirm detected variants. Analysis is performed for the 3 Ashkenazi Jewish mutations only. This assay does not rule out presence of other mutations within BRCA1 or BRCA2.
Note: Analysis of the area surrounding the three Ashkenazi Jewish variants may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.
This test offers diagnostic or predictive testing for breast and ovarian cancer risk in a patient of Ashkenazi Jewish ancestry.
This test is appropriate for familial diagnostic or predictive testing for breast and ovarian cancer risk in a patient of Ashkenazi Jewish ancestry with a family member found to have 1 of the Ashkenazi Jewish founder mutations.
Custom Sequence Capture and Targeted Next-Generation Sequencing