CPT® Code 81212

BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants

Molecular genetic testing is a critical procedure used to identify specific mutations in the BRCA1 and BRCA2 genes, which are essential for maintaining genomic stability. The BRCA1 gene is located on chromosome 17, while the BRCA2 gene is found on chromosome 13. Both genes function as tumor suppressors, playing a vital role in preventing uncontrolled cell growth and facilitating the error-free repair of chromosomal damage, particularly in the context of DNA double-strand breaks. When mutations occur in these genes, their ability to repair damaged DNA is compromised, leading to unchecked cellular proliferation. This malfunction is significantly associated with an elevated risk of developing early-onset breast and ovarian cancers in females, as well as certain other cancers in both males and females. The prevalence of these mutations is notably higher in specific populations, including those of Norwegian, Dutch, Icelandic, and Ashkenazi Jewish descent. Genetic testing for these mutations is crucial as it can help identify hereditary cancer syndromes, guide appropriate treatment options, and inform family members who may also be at risk. The analysis performed under CPT® Code 81212 specifically targets three well-documented variants: 185delAG and 5385insC on the BRCA1 gene, and 6174delT on the BRCA2 gene. These variants, while not exclusive to the Ashkenazi Jewish population, are found with increased frequency among individuals of this heritage. The testing process typically involves the analysis of whole blood or buccal cells, and it may include a comprehensive examination of gene sequences to identify point mutations or single nucleotide polymorphisms, as well as larger gene rearrangements.