Name of the Procedure:

Hereditary Colon Cancer Disorders Duplication/Deletion Analysis Panel (e.g., Analysis including MLH1, MSH2, EPCAM, SMAD4, and STK1)

Summary

This genetic test analyzes specific genes associated with hereditary colon cancer conditions like Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, and familial adenomatosis polyposis. It looks for duplications or deletions in at least five genes, ensuring a comprehensive assessment.

Purpose

This test helps identify genetic mutations that increase the risk of hereditary colon cancer. By confirming the presence of these mutations, it allows for early intervention, tailored treatment, and better-informed surveillance strategies.

Indications

• A personal or family history of colon cancer at a young age.
• Multiple polyps in the colon.
• A known family history of specific genetic syndromes (e.g., Lynch syndrome, Cowden syndrome).
• Previous genetic testing indicating potential mutations in related genes.

Preparation

• No special dietary restrictions or fasting required.
• Discuss any medications with your healthcare provider.
• May need to provide a detailed family history and any previous genetic testing results.

Procedure Description

1. Sample Collection: Typically involves drawing a blood sample; sometimes a saliva sample or cheek swab is used.
2. DNA Extraction: DNA is extracted from the collected sample in a laboratory.
3. Gene Analysis: The extracted DNA is then analyzed using specialized techniques to detect duplications or deletions in the specified genes (MLH1, MSH2, EPCAM, SMAD4, and STK1).
4. Interpretation: Geneticists interpret the results to identify any harmful mutations.

Tools and equipment include:

• Blood collection supplies.
• DNA extraction kits.
• Genetic analysis technologies (e.g., PCR, next-gen sequencing).

No anesthesia or sedation is required.

Duration

The actual sample collection takes about 10-15 minutes. The analysis process in the lab may take several weeks to complete.

Setting

Performed in a healthcare provider’s office for sample collection; analysis is conducted in a specialized genetics laboratory.

Personnel

• Phlebotomist or nurse for sample collection.
• Geneticist or lab technician for analysis.
• Genetic counselor to aid in interpreting results and advising on next steps.

Risks and Complications

• Minimal risk involved in blood sample collection, such as slight bruising or discomfort.
• Psychological distress from learning about increased cancer risks.

Benefits

• Early identification of genetic predisposition to colon cancer.
• Informative for family members who may also be at risk.
• Enables proactive management strategies, including increased surveillance and preventive measures.

Recovery

• No recovery time needed post-sample collection.
• Follow-up appointments might be scheduled to discuss results and their implications.

Alternatives

• Single gene testing if there is a strong indication of a specific gene mutation.
• Whole-exome or whole-genome sequencing for broader analysis.
• Pros: More tailored and detailed results.
• Cons: Longer time for results and potentially higher costs.

Patient Experience

During the sample collection, patients may feel a brief pinch or discomfort. They will experience no significant discomfort during the genetic analysis phase. After the procedure, there may be anxiety associated with waiting for and receiving results. Genetic counseling can provide support and guidance throughout the process.