BRCA1/2 3-mutation panel
Use
The BRCA1/2 3-mutation panel is essential for assessing hereditary breast and ovarian cancer (HBOC) syndrome, which is linked to mutations in the BRCA1 and BRCA2 genes. These genes are highly penetrant, and mutations in them significantly increase the risk of developing cancers such as breast, ovarian, and fallopian tube cancers, as well as pancreatic and prostate cancers. This test analyzes specific known mutations within the BRCA1 and BRCA2 genes that are clinically relevant for hereditary cancer syndromes, helping guide clinical management and preventive measures.
Special Instructions
It is crucial to ensure specimen sufficiency, as factors such as order volume or unforeseen circumstances may affect turnaround times. Consider family variant testing, offered at no additional cost to blood relatives of patients found to have pathogenic variants, provided testing occurs within 90 days of the initial report date (applicable only in the U.S or its territories).
Limitations
The BRCA1/2 3-mutation panel may not detect all possible mutations within the BRCA1 and BRCA2 genes. Limitations include not identifying intronic or non-coding variants beyond 5 base pairs from the splice junction unless they have known clinical significance. Results may be influenced by factors such as low variant allele frequency, pseudogene interference, or insufficient coverage depth. Gross deletions/duplications analysis relies on MLPA, which may not detect all structural variants.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
6-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided