BRCA1/2 Mutation Analysis for Tumors
Use
This test analyzes BRCA1 and BRCA2 coding exons in tumor specimens to detect point mutations and small insertions/deletions, aiding in the identification of somatic mutations relevant for tumor biology and potential therapeutic decisions.
Special Instructions
This test is specifically for tumor specimens; does not detect large deletions or duplications; germline testing must be ordered via the Hereditary Cancer Testing menu.
Limitations
Does not detect large deletions or duplications; limited to point mutations and small insertions/deletions only.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Paraffin block or positively‑charged slides (1 H&E plus 5‑10 unstained slides, ≥5 µm thick)
Collection Instructions
Paraffin block preferred; alternatively 1 H&E slide plus 5‑10 unstained slides cut at ≥5 µm; use positively‑charged slides and 10% NBF fixative; do not use zinc fixatives.
Storage Instructions
Use cold pack for transport; ensure cold pack not in direct contact with specimen; NYS clients provide date and time of collection.
