Name of the Procedure:

Full Sequence Analysis of the MSH2 Gene Common Name(s): MSH2 Gene Testing, Lynch Syndrome Testing Technical Term(s): MutS Homolog 2 Full Sequence Analysis, Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Gene Analysis

Summary

In this procedure, the entire DNA sequence of the MSH2 gene is analyzed to check for mutations. These mutations can indicate a predisposition to hereditary non-polyposis colorectal cancer, also known as Lynch syndrome, which is a type of colon cancer that occurs due to inherited genetic mutations.

Purpose

Medical Condition/Problem Addressed: The test identifies genetic mutations that increase the risk of developing Lynch syndrome and associated cancers (e.g., colorectal, endometrial, ovarian cancers).

Goals/Expected Outcomes: The primary goal is to detect mutations in the MSH2 gene. Early identification helps in managing and monitoring the patient's health to prevent or detect cancer early.

Indications

Specific Symptoms/Conditions:

• Family history of Lynch syndrome-related cancers
• Multiple cases of colorectal cancer in the family
• Early-onset colorectal cancer

Patient Criteria: Individuals with a strong family history of Lynch syndrome, or those who have had other cancers associated with the syndrome.

Preparation

Pre-procedure Instructions:

• No fasting or dietary restrictions required.

• Inform the healthcare provider of any medications or supplements.

  Diagnostic Tests/Assessments:

• Genetic counseling is often recommended before the test.
• Collection of a detailed family history.

Procedure Description

1. Sample Collection: A blood sample is typically drawn from the patient. Sometimes, a saliva or tissue sample may be used.
2. DNA Extraction: The DNA is extracted from the sample in a laboratory.
3. Sequencing: The MSH2 gene is sequenced using specialized equipment to identify any mutations.
4. Analysis: The sequencing data is analyzed to detect any changes or mutations in the gene.

Tools/Equipment: Blood draw equipment, DNA extraction kits, sequencing machines.

Anesthesia/Sedation: Not required for the sample collection.

Duration

The sample collection takes a few minutes, but the entire process from sample collection to results can take several weeks.

Setting

Typically performed in an outpatient clinic, hospital laboratory, or specialized genetic testing facility.

Personnel

• Phlebotomist or nurse (for sample collection)
• Geneticist or laboratory technician (for DNA extraction and sequencing)
• Genetic counselor (for pre- and post-test counseling)

Risks and Complications

Common:

• Minor discomfort or bruising at the blood draw site.

  Rare:

• Infection at the blood draw site.

  Complications: Generally very low risk.

Benefits

• Identifies risk for Lynch syndrome and related cancers.
• Provides information for proactive health management and surveillance.

Recovery

• No recovery time needed for the test itself.
• Follow-up appointments may be scheduled to discuss results and implications.

Alternatives

• Single-site mutation testing if a specific mutation is already known in the family.
• Multi-gene panel testing for hereditary cancer syndromes.

Pros and Cons of Alternatives:

• Multi-gene panel testing may provide broader information but can be more expensive and complex.
• Single-site testing is quicker but less comprehensive.

Patient Experience

During the Procedure:

• Minimal discomfort during the blood draw.

After the Procedure:

• Normal activities can be resumed immediately.
• Patients may feel anxious while awaiting results; genetic counseling can provide support.

Pain Management/Comfort Measures:

• Standard pain and comfort measures for blood draws, such as local ice packs or bandages, can be applied if needed.