Hereditary Breast/Gynecologic Cancer Panel, Varies

Clinical Use

Use

The test is utilized for evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome. It helps in establishing a diagnosis for such syndromes, allowing for targeted cancer surveillance based on associated risks. By identifying genetic variants associated with an increased risk for these cancers, it facilitates predictive testing and appropriate screening for at-risk family members. Moreover, the test determines eligibility for therapy with poly adenosine diphosphate-ribose polymerase (PARP) inhibitors, which is based on specific gene alterations like BRCA1 and BRCA2 found in selected tumor types.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants, and false-negative or false-positive results may occur. The test performance can be affected by technical limitations such as regions of homology, high GC content, and repetitive sequences. Single exon resolution may not be achievable for deletion/duplication analysis in some instances. The test does not detect low levels of mosaicism or differentiate between somatic and germline variants, and reclassification of variants is not standard practice. Testing may not effectively evaluate patients with allogeneic hematopoietic stem cell transplants or recent blood transfusions due to the presence of donor DNA.

Test Details

New York Approved