CPT® Code 81211

Deleted

BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)

The CPT® Code 81211 pertains to the molecular genetic testing of the BRCA1 and BRCA2 genes, which are critical components in the study of hereditary breast and ovarian cancer. These genes, located on chromosome 17 (BRCA1) and chromosome 13 (BRCA2), function as tumor suppressors, playing a vital role in maintaining the stability of genetic material and preventing the uncontrolled proliferation of cells. Mutations in these genes are associated with a significantly increased risk of developing breast cancer and other malignancies in both men and women. Specifically, BRCA1 mutations in women are linked to a heightened risk of early-onset breast cancer, as well as cervical, ovarian, uterine, pancreatic, and colon cancers. In men, BRCA1 mutations can elevate the risk of breast cancer and, to a lesser extent, pancreatic and testicular cancers. Similarly, mutations in the BRCA2 gene in women are associated with increased risks for pancreatic, stomach, gallbladder, bile duct cancers, and melanoma, while men with BRCA2 mutations face a higher incidence of breast, pancreatic, and prostate cancers. The procedure described by CPT® Code 81211 involves a comprehensive full sequence analysis of both BRCA1 and BRCA2 genes, along with the examination of common duplication and deletion variants specifically in the BRCA1 gene. This full sequence analysis is a meticulous process that compares segments of the genes to identify similarities and differences, thereby elucidating their relationships. It involves studying intrinsic features to locate active sites for post-translational modifications, gene structures, the distribution of introns and exons, and regulatory elements. Genetic markers are identified through the detection of point mutations or single nucleotide polymorphisms (SNPs). A normal gene typically has two copies per cell, except for sex chromosomes; thus, the presence of zero or one copy indicates a deletion variant, while three or more copies suggest a duplication variant. The most frequently observed variants in the BRCA1 gene include exon 13 deletion of 3.835kb, exon 13 duplication of 6kb, exon 14-20 deletion of 26kb, exon 22 deletion of 510bp, and exon 8-9 deletion of 7.1kb.