BRCAvantage®, Ashkenazi Jewish Screen

Casandra

Casandra Test Code QD92558Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 91864

BRCAvantage®, Ashkenazi Jewish Screen

Also known as: BRACA, 185delAG, 5382incC, 6174delT, c.5266dupC

Clinical Use

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Use

This test is indicated to identify individuals of Ashkenazi Jewish ancestry, and/or those with a personal or family history of breast, ovarian, pancreatic, or high‑grade prostate cancer, who have an increased risk for hereditary breast and ovarian cancer syndrome. Two major founder mutations in BRCA1 and one in BRCA2 — common in this population — are targeted, enabling targeted risk assessment and appropriate genetic counseling and management. Informed consent and genetic counseling are strongly recommended prior to testing. Quest suggests that if broader ancestry or clinical criteria are present, more comprehensive testing may be warranted.

Special Instructions

Test is appropriate as a first‑line assay for individuals of Ashkenazi Jewish heritage. If none of the three founder mutations are detected, reflex to comprehensive BRCA sequencing (test code 91863) may be performed when ordered under the reflex combination (test code 92140). Genetic counseling and informed consent are strongly recommended. Insurance coverage will be verified upon receipt of a fully completed order; if the patient’s estimated responsibility exceeds $100, the provider or patient will be notified before test initiation.

Limitations

This test detects only the three common founder mutations (c.68_69delAG, c.5266dupC, c.5946delT) and does not assess the full spectrum of BRCA1/BRCA2 variants. It cannot detect variants outside these specific founder mutations; thus, individuals with other pathogenic variants may receive false‑negative results. The test does not include analysis of other genes associated with hereditary breast or ovarian cancer. Rare or novel variants, as well as copy number variants, may not be detected and could require additional testing.

Test Details