CPT® Code 81217

The CPT® Code 81217 pertains to the molecular genetic testing of the BRCA2 gene, which is crucial for the repair of DNA and the maintenance of genomic stability. The BRCA2 gene, located on chromosome 13, plays a significant role in preventing uncontrolled cell growth by stabilizing genetic material. This 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 males and females. 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 familial relationships. This analysis also examines intrinsic features of the gene, including active sites for post-translational modifications, gene structures, and the distribution of introns and exons, along with regulatory elements. Genetic markers are identified through the detection of point mutations or single nucleotide polymorphisms. Specifically, CPT® Code 81217 is utilized when a BRCA2 gene analysis is performed for a known familial variant, meaning that the test focuses on a specific mutation that has already been identified in a family member. This is particularly relevant in families with a history of cancers such as breast, ovarian, prostate, skin, and pancreatic cancers. In contrast, other codes, such as CPT® Code 81167, are used for full duplication or deletion analyses to detect large gene rearrangements, where the normal gene should have two copies per cell, and deviations from this indicate potential variants.