Name of the Procedure:

Genomic Sequence Analysis Panel for Hereditary Colon Cancer Disorders (e.g., Lynch Syndrome, PTEN Hamartoma Syndrome, Cowden Syndrome, Familial Adenomatosis Polyposis); Including Sequencing of at least 10 Genes (e.g., APC, BMPR1A, CDH1, MLH1, MSH2, MSH6)

Summary

This procedure involves a comprehensive genetic test that sequences at least 10 specific genes associated with hereditary colon cancer disorders. It helps in identifying genetic mutations that could increase the risk of developing colon cancer, allowing for better diagnosis, risk assessment, and personalized treatment plans.

Purpose

This test addresses genetic predispositions to colon cancer, providing crucial information for prevention, early detection, and targeted treatment. The goal is to identify individuals at high risk of hereditary colon cancer and guide them towards effective management strategies.

Indications

• Family history of colon cancer or related cancers.
• Symptoms suggestive of a genetic predisposition to colon cancer.
• Patients with early-onset colon cancer.
• Individuals with known familial cancer syndromes like Lynch Syndrome, Cowden Syndrome, PTEN Hamartoma Syndrome, or Familial Adenomatosis Polyposis.

Preparation

• No special preparation such as fasting is typically required.
• Patients may need to provide a detailed family medical history.
• Pre-test genetic counseling is often recommended to explain the test and its implications.

Procedure Description

1. A blood or saliva sample is collected from the patient.
2. The DNA is extracted from the sample in a laboratory setting.
3. The genomic sequence analysis focuses on at least 10 specific genes known to influence colon cancer risk.
4. Advanced sequencing technology is employed to identify any mutations or abnormalities in these genes.
5. The results are analyzed and interpreted by genetic specialists, who compile a report.

Duration

The actual sample collection takes a few minutes. The sequencing and analysis process may take several weeks, typically 2-4 weeks.

Setting

The sample collection is usually done in an outpatient clinic, hospital, or specialized genetic testing center.

Personnel

• Genetic counselors
• Laboratory technicians
• Medical geneticists
• Oncologists

Risks and Complications

• Minimal physical risks are associated with sample collection (e.g., slight bruising).
• Potential for psychological stress due to the results.
• Rarely, inconclusive or uncertain results may require further testing.

Benefits

• Identification of genetic mutations enables early intervention and personalized treatment plans.
• Helps high-risk individuals take preventive measures.
• Provides peace of mind or actionable information for patients and their families.

Recovery

There is no recovery time required for the sample collection itself. Patients may require follow-up counseling to discuss results and next steps.

Alternatives

• Single-gene testing if the specific gene suspected is known.
• Regular screening colonoscopies without genetic testing.
• Lifestyle and diet modifications as a preventive approach.

Patient Experience

During the procedure: Patients will undergo a simple and quick blood or saliva sample collection, which involves minimal discomfort. After the procedure: Patients await the test results and may experience anxiety about potential outcomes. Genetic counseling and support are usually available to help manage this period.