CPT® Code 81436

Deleted

Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11

The CPT® Code 81436 pertains to a specialized laboratory test designed to identify genetic mutations linked to hereditary colon cancer disorders. This test is particularly relevant for individuals diagnosed with certain types of cancer and their family members who may be at increased risk for developing hereditary colon cancers. The hereditary conditions covered by this code include familial adenomatosis polyposis, Lynch syndrome (also known as hereditary nonpolyposis colon cancer), PTEN hamartoma tumor syndrome, and Cowden syndrome. These disorders are characterized by specific genetic mutations that can lead to an elevated risk of developing various cancers. For instance, PTEN and Cowden syndrome are rare genetic conditions marked by the presence of multiple hamartomas—benign tumor-like growths that can occur in different parts of the body—alongside a heightened susceptibility to certain cancer types. To perform this genetic testing, a sample is collected from the patient, which can be obtained from blood, saliva, or stool, depending on the specific requirements of the test. The analysis involves genomic sequencing, which examines the genetic material comprehensively or nearly comprehensively. The panel specifically analyzes at least five critical genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11, among others. These genes are essential for understanding the genetic basis of the aforementioned hereditary conditions. The test utilizes advanced techniques such as next-generation sequencing or massively parallel sequencing, allowing for the detection of intragenic deletions or duplications at a single exon resolution. This level of detail is crucial for accurate diagnosis and risk assessment in patients and their families.