81300 MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants

Name of the Procedure:

MSH6 (mutS homolog 6 [E. coli]) Gene Analysis; Duplication/Deletion Variants
Common Name: MSH6 Gene Test
Technical Term: MSH6 Mutation Analysis

Summary

The MSH6 gene analysis is a test that examines the MSH6 gene for duplications or deletions. This gene plays a crucial role in DNA repair, and changes in this gene can lead to hereditary non-polyposis colorectal cancer and Lynch syndrome, increasing the risk of several types of cancer.

Purpose

The primary goal of this test is to detect genetic changes in the MSH6 gene that may indicate an increased risk for certain cancers, particularly colorectal and Lynch syndrome-associated cancers. Identifying these changes can help in risk assessment and guide preventive measures or treatment plans.

Indications

• Family history of colorectal cancer or Lynch syndrome.
• Early-onset colorectal cancer.
• A personal or family history of multiple cancers, particularly those associated with Lynch syndrome (e.g., endometrial, ovarian, gastric).

Preparation

• No special preparations such as fasting are required.
• Patients should provide a detailed family history of cancer.
• A blood sample or a saliva sample will be collected for DNA analysis.

Procedure Description

1. Collection of a DNA sample through a blood draw or saliva sample.
2. The sample is sent to a laboratory equipped to perform genetic testing.
3. Laboratory personnel use specialized technology to analyze the MSH6 gene for any duplications or deletions.
4. Results are reviewed by a genetic counselor or a physician specializing in genetics.

Duration

The sample collection process takes about 15-30 minutes. Laboratory analysis and results processing can take several weeks.

Setting

• Outpatient clinic
• Genetic testing laboratory

Personnel

• Phlebotomist or nurse for sample collection
• Laboratory technologists
• Genetic counselor
• Physician (e.g., oncologist, geneticist)

Risks and Complications

• Minor discomfort or bruising at the sample collection site (if a blood sample is taken).
• Psychological impact of discovering a high genetic risk for cancer.

Benefits

• Identification of increased cancer risk allows for early and more frequent screening.
• Personalized preventive care and treatment strategies.
• Informative for family planning and risk assessment for relatives.

Recovery

• No physical recovery is needed.
• Psychological support or genetic counseling may be recommended to discuss the results and implications.

Alternatives

• Other gene tests for different mutations associated with cancer risk (e.g., MLH1, MSH2).
• Comprehensive cancer panels that test for multiple genes simultaneously.
• Regular cancer screening without genetic testing based on family history.

Patient Experience

• Procedure is minimally invasive with little to no discomfort.
• Results might induce anxiety or relief, hence coping support is essential.
• Ongoing follow-ups may be necessary depending on the results and personal medical history.