CPT® Code 81167

BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements)

The CPT® Code 81167 pertains to the molecular genetic testing of the BRCA2 gene, which is crucial for the repair of DNA and the maintenance of genomic stability. This gene, located on chromosome 13, plays a significant role in preventing uncontrolled cell growth by stabilizing genetic material. The BRCA2 gene is part of a family of genes that are responsible for the error-free repair of chromosomal damage, particularly in the context of DNA double strand breaks. When mutations occur in the BRCA2 gene, its ability to repair damaged DNA is compromised, leading to the uncontrolled proliferation of cells. Such mutations are notably associated with an increased risk of developing early onset breast and ovarian cancers in females, as well as certain other cancers in both men and women. The testing process involves analyzing whole blood or buccal cells to conduct a full sequence analysis, which compares segments of the gene to identify similarities or differences and establish relationships. This analysis includes the examination of intrinsic features such as active sites for post-translational modifications, gene structures, and the distribution of introns, exons, and regulatory elements. Additionally, genetic markers can be identified through the detection of point mutations or single nucleotide polymorphisms. The full duplication/deletion analysis specified by CPT® Code 81167 focuses on detecting large gene rearrangements, which are critical for understanding the genetic landscape of individuals with a family history of cancers linked to BRCA2 mutations. In this context, a normal BRCA2 gene should have two copies per cell, and deviations from this norm—such as zero or one copy indicating a deletion variant, or three or more copies suggesting a duplication variant—are significant findings in the analysis.