CPT® Code 81295

MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis

The CPT® Code 81295 pertains to the molecular genetic testing of the MSH2 gene, which is crucial for identifying mutations that increase the risk of developing colorectal cancer and other associated cancers. The MSH2 gene is located on chromosome 2 and plays a significant role in the DNA repair process. It is part of a protein complex that detects errors during DNA replication, working in conjunction with the MSH1/PMS2 protein complex to facilitate necessary repairs. When these errors are not corrected, they can accumulate, leading to uncontrolled cell proliferation and the formation of tumors. The most notable condition associated with mutations in the MSH2 gene is hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. This condition is characterized by a heightened risk of various cancers, including those of the endometrium, ovaries, prostate, stomach, small intestine, liver, gallbladder duct, upper urinary tract, brain, and skin. The full sequence analysis performed under CPT® Code 81295 involves a comprehensive examination of the MSH2 gene to identify specific mutations, particularly point mutations, which are alterations in a single DNA base. This analysis is essential for individuals with a family history of MSH2 mutations, as it can guide further testing and counseling for family members who may also be at risk.