CPT® Code 81214

Deleted

BRCA1 (breast cancer 1) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (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 81214 pertains to the molecular genetic testing of the BRCA1 gene, which is crucial in assessing the risk of hereditary breast and ovarian cancer. The BRCA1 gene, located on chromosome 17, encodes the breast cancer type 1 susceptibility protein, a key player in the DNA repair process. When mutations occur in this gene, the protein's ability to repair or eliminate damaged DNA is compromised, potentially leading to an increased risk of developing breast cancer, ovarian cancer, or fallopian tube cancer at any age. The procedure described by this code involves a comprehensive analysis of the BRCA1 gene, including a full sequence analysis and the examination of common duplication and deletion variants. The full sequence analysis is a detailed comparison of gene segments to identify any variations that may exist, which can include point mutations or single nucleotide polymorphisms (SNPs). This analysis also investigates the gene's intrinsic features, such as active sites for post-translational modifications, gene structures, and the distribution of introns and exons. A normal BRCA1 gene typically has two copies per cell, except for sex chromosomes, while the presence of zero or one copy indicates a deletion variant, and three or more copies suggest a duplication variant. Furthermore, the testing is particularly beneficial for families with a history of breast and ovarian cancers, as it can help identify specific mutations and familial variants, thereby informing risk assessments for relatives who may also carry these genetic mutations.