CPT® Code 81435

Hereditary colon cancer-related disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), genomic sequence analysis panel, 5 or more genes, interrogation for sequence variants and copy number variants

The CPT® Code 81435 pertains to molecular genetic testing specifically designed to identify mutations associated with hereditary colon cancer-related disorders. These disorders include conditions such as Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, and familial adenomatosis polyposis. The testing involves a genomic sequence analysis panel that examines five or more genes, focusing on the interrogation for both sequence variants and copy number variants. This type of genetic testing is crucial for confirming a cancer diagnosis and for identifying family members who may be at risk of developing hereditary colon cancer. The process begins with the collection of a biological specimen, which can be obtained from blood, saliva, or stool, through a separately reportable procedure. The specimen is then subjected to a comprehensive genomic sequencing procedure that evaluates the genetic material in its entirety or near entirety. The panel specifically targets key genes, including the adenomatous polyposis coli (APC) gene, which is linked to familial adenomatosis polyposis, and several mismatch repair genes such as MLH1, MSH2, and MSH6, which are associated with Lynch syndrome. Additionally, the MUTYH gene, which can be monoallelic or biallelic, is examined for its association with polyposis, along with the PTEN gene for variant mutations. Other relevant genes that may be included in the analysis are BMPR1A, CDH1, SMAD4, and STK11. The targeted gene segments undergo enrichment through capture hybridization, followed by the application of massively parallel sequencing and/or microarray analysis to the target regions. This advanced methodology allows for the detection of gene mutations by comparing gene segments to identify similarities or differences. The testing can reveal genetic markers and variations in the genetic sequence, including point mutations or single nucleotide polymorphisms. Various techniques are employed to interrogate sequence variants or copy number variants, which assist in determining large structural rearrangements and interpreting the effects of these variants on proteins, amino acids, or clinical phenotypes.