CPT® Code 81216

Molecular genetic testing is a critical procedure used to identify mutations in the BRCA2 gene, which is located on chromosome 13. This gene plays a vital role in stabilizing genetic material and preventing uncontrolled cell growth, functioning as a tumor suppressor. The BRCA2 gene is part of a gene family that is associated with the error-free repair of chromosomal damage and the repair of DNA double strand breaks. When mutations occur in the BRCA2 gene, its ability to repair damaged DNA is compromised, leading to uncontrolled cell proliferation. Such mutations are significantly linked to 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 various segments of the gene to identify similarities or differences and to establish relationships among them. This analysis includes studying intrinsic features of the gene, 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. In cases where there is a known familial variant, a different CPT® code (81217) is utilized to analyze a specific site on the BRCA2 gene for mutations that have already been identified in other family members. Furthermore, another CPT® code (81167) is used for full duplication/deletion analysis, which detects large gene rearrangements. This analysis is crucial because a normal gene typically has two copies per cell, and deviations from this norm—such as zero or one copy indicating a deletion variant, or three or more copies indicating a duplication variant—can provide significant insights into genetic risks associated with cancer.