CPT® Code 81322

1. Indications

The CPT® Code 81322 is indicated for molecular genetic testing in individuals with a family history of PTEN hamartoma tumor syndrome or Cowden syndrome. This testing is particularly relevant for patients who may exhibit symptoms or conditions associated with these syndromes, which include:

• Family History of Cowden Syndrome Individuals with a known familial variant of the PTEN gene, which may predispose them to developing tumors.
• Presence of Non-Malignant Tumors Patients presenting with multiple non-malignant tumors that may have the potential to become cancerous, especially in the breast, thyroid, and uterus.
• Breast Cancer Diagnosis Patients diagnosed with breast cancer who have a family history of PTEN mutations or related syndromes.

2. Procedure

The procedure for CPT® Code 81322 involves several key steps to accurately identify known familial variants of the PTEN gene. The process begins with the collection of a biological sample, typically blood or saliva, from the patient. This sample is then sent to a specialized laboratory where the DNA is extracted and prepared for analysis. The laboratory performs targeted sequencing to detect specific known variants in the PTEN gene that have been previously identified in family members or associated with Cowden syndrome. This targeted approach allows for the efficient identification of mutations that are clinically relevant. Once the analysis is complete, the laboratory generates a report detailing the findings, including whether any known familial variants were detected. This report is then provided to the healthcare provider, who will interpret the results in the context of the patient's clinical history and family background.

• Step 1: Sample Collection A biological sample, such as blood or saliva, is collected from the patient for DNA extraction.
• Step 2: DNA Extraction The laboratory extracts DNA from the collected sample, preparing it for genetic analysis.
• Step 3: Targeted Sequencing The laboratory conducts targeted sequencing to identify specific known familial variants in the PTEN gene.
• Step 4: Reporting Results A comprehensive report is generated, detailing the presence or absence of known familial variants, which is then provided to the healthcare provider.

3. Post-Procedure

After the completion of the genetic testing associated with CPT® Code 81322, patients may receive counseling regarding the implications of the test results. If a known familial variant is identified, healthcare providers may discuss the potential risks for the patient and their family members, including the likelihood of developing associated tumors. Follow-up care may include regular monitoring for tumor development, preventive measures, or further genetic testing for family members. It is essential for patients to have access to genetic counseling to understand the results and make informed decisions regarding their health management and screening protocols.