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MSH2 Gene Deletion/Amplification in Blood (Tumor Mutation Analysis)

Published: August 9, 2026Updated: August 16, 2026

This test checks for changes (deletions or extra copies) in the MSH2 gene, which plays a key role in DNA repair. These changes may be linked to an increased risk of certain cancers.

Quick summary

["Changes in the MSH2 gene could affect cancer risk and treatment options."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
79415-6
Short code
MSH2 gene Del+Dup Bld/T MLPA
Synonyms
MSH2 gene Del+Dup Bld/T MLPA
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
mlpa
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of hereditary non-polyposis colorectal cancer (HNPCC) or other Lynch syndrome-related cancers, or if you’ve been diagnosed with certain cancers like colorectal, endometrial, or ovarian cancer.

What to Expect Before the Test

No special preparation is needed. A blood sample will be taken from a vein in your arm, similar to a routine blood draw. You may feel a slight pinch, but it usually doesn’t cause discomfort.

What the Test Results Mean

If the test finds a deletion or duplication in the MSH2 gene, it may indicate a genetic predisposition to Lynch syndrome-related cancers. This information can help guide cancer screening and treatment plans.

Common Conditions Linked to MSH2 Gene Changes

Genetic changes in MSH2 are strongly associated with Lynch syndrome, a condition that increases the risk of several types of cancers, including colorectal, endometrial, ovarian, and others. Early detection and monitoring are important.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

MSH2 Gene Status in Blood

Frequently asked questions

What does a positive or negative result mean for my health?
A positive result (deletion or duplication) suggests a higher risk of Lynch syndrome-related cancers and may prompt additional genetic counseling and cancer screening, such as regular colonoscopies or pelvic ultrasounds.
Will this test affect my cancer treatment?
Yes, the results may influence treatment decisions, especially if you’ve already been diagnosed with cancer. Your healthcare team will discuss how these findings could impact your personalized treatment plan.
Is this test covered by insurance?
Coverage depends on your insurance plan and clinical indication. Check with your provider or insurance company to confirm if this test is approved for your situation.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy