CPT® Code 81435

1. Indications

The molecular genetic testing represented by CPT® Code 81435 is indicated for the following hereditary colon cancer-related disorders:

• Lynch syndrome - A hereditary condition that increases the risk of various cancers, particularly colorectal cancer, due to mutations in mismatch repair genes.
• PTEN hamartoma syndrome - A genetic disorder characterized by the development of hamartomas and an increased risk of certain cancers, including breast and thyroid cancers.
• Cowden syndrome - A genetic condition associated with multiple noncancerous, tumor-like growths and an increased risk of breast, thyroid, and other cancers.
• Familial adenomatosis polyposis - A hereditary syndrome that leads to the development of numerous polyps in the colon and rectum, significantly increasing the risk of colorectal cancer.

2. Procedure

The procedure for CPT® Code 81435 involves several critical steps to ensure accurate genomic analysis:

• Specimen Collection - A biological specimen, which may be blood, saliva, or stool, is collected from the patient. This step is essential as it provides the genetic material needed for testing. The collection must be performed through a separately reportable procedure to ensure proper documentation and billing.
• Genomic Sequencing - The collected specimen undergoes a genomic sequencing procedure that evaluates the genetic material in totality or near totality. This comprehensive analysis is crucial for identifying mutations associated with hereditary colon cancer disorders.
• Target Gene Analysis - The genomic sequence analysis panel specifically interrogates five or more genes known to be associated with hereditary colon cancer. This includes genes such as APC, MLH1, MSH2, MSH6, MUTYH, and PTEN, among others. The targeted gene segments are enriched using capture hybridization techniques to enhance the accuracy of the analysis.
• Massively Parallel Sequencing and Microarray Analysis - Advanced methodologies, including massively parallel sequencing and/or microarray analysis, are applied to the enriched target regions. These techniques allow for the detection of gene mutations by comparing gene segments and identifying similarities or differences.
• Variant Identification - The analysis focuses on identifying genetic markers and variations, such as point mutations or single nucleotide polymorphisms. Different techniques are utilized to interrogate sequence variants or copy number variants, which help in determining large structural rearrangements and interpreting the effects of these variants on proteins, amino acids, or clinical phenotypes.

3. Post-Procedure

After the completion of the genomic sequence analysis, the results are typically reviewed and interpreted by a qualified healthcare professional. The findings can provide critical information regarding the presence of mutations associated with hereditary colon cancer disorders. Patients may receive genetic counseling to discuss the implications of the test results, including the potential need for further testing or surveillance for at-risk family members. Follow-up care may involve additional screenings or preventive measures based on the identified genetic risks. It is essential for healthcare providers to document the results and any subsequent recommendations in the patient's medical record to ensure continuity of care and appropriate management of any identified risks.