Name of the Procedure:

PTEN (Phosphatase and Tensin Homolog) Gene Analysis; Duplication/Deletion Variant

Summary

In this procedure, a genetic test examines the PTEN gene for any duplications or deletions. It's used to diagnose conditions like Cowden syndrome and PTEN hamartoma tumor syndrome (PHTS), which are linked to increased cancer risks and other health issues.

Purpose

This test addresses potential genetic mutations in the PTEN gene associated with hereditary cancer syndromes. The goal is to identify such mutations to guide management and treatment options, including early interventions and personalized medical care.

Indications

• Family history of Cowden syndrome (CS) or PTEN hamartoma tumor syndrome (PHTS)
• Presence of multiple hamartomas (benign growths)
• Early-onset or multiple cancers, particularly breast, thyroid, or endometrial cancer
• Macrocephaly (larger than normal head size)

Preparation

• No fasting or specific medication adjustments required.
• A detailed family medical history and genetic counseling may be necessary prior to the test.

Procedure Description

1. A sample, usually blood or saliva, is collected from the patient.
2. The DNA is extracted from the sample.
3. Using advanced genomic technologies, the PTEN gene is analyzed to detect any duplications or deletions.
4. The results are interpreted by a geneticist to identify any pathogenic variants.

Duration

The sample collection process takes about 10-15 minutes. The analysis might take a few weeks, depending on the laboratory's processing time.

Setting

The sample collection can be performed in a hospital, outpatient clinic, or a specialized genetic testing center.

Personnel

• Phlebotomist or nurse for sample collection
• Laboratory technicians and geneticists for analyzing and interpreting the results

Risks and Complications

• Minor discomfort or bruising at the sample collection site.
• Psychological impact of knowing one's genetic risk, which can be managed through genetic counseling.

Benefits

• Identifies specific genetic mutations, leading to targeted medical management.
• Allows for early surveillance and preventive measures to reduce cancer risk.
• Informs family members about their potential risk and need for genetic testing.

Recovery

• No significant recovery time needed; normal activities can be resumed immediately.
• Follow-up appointment may be scheduled to discuss test results and next steps.

Alternatives

• Other types of genetic testing or broader panels that examine multiple genes.
• Regular monitoring and early cancer screening without genetic confirmation.

Patient Experience

• Minimal discomfort during sample collection.
• Anxiety while awaiting results, which can be alleviated with supportive counseling.
• Clearer understanding of genetic risk and proactive measures for health management.