MSH2, MLH1, and MSH6 Gene Mutation Analysis, Blood
This blood test examines three genes (MSH2, MLH1, and MSH6) for changes (mutations) that can increase the risk of certain cancers, particularly colorectal and endometrial cancer. It is often used to evaluate inherited cancer risk.
["A mutation in one of these genes can indicate an inherited cancer predisposition, so results should be interpreted with genetic counseling."]
Key facts at a glance
- LOINC
- 58010-0
- Short code
- MSH2+MLH1+MSH6 gene Mut Anl Bld/T
- Synonyms
- MSH2+MLH1+MSH6 gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 1.5
- Ref high
- 9
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 83002
- 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
What This Test Looks For
The test analyzes the MSH2, MLH1, and MSH6 genes, which are part of the mismatch repair (MMR) system that helps cells correct errors in DNA. Certain mutations in these genes can disrupt DNA repair and raise the risk of specific cancers.
Why It May Be Ordered
Your healthcare provider may order this test if you or your family have a pattern of cancers suggestive of an inherited condition, such as Lynch syndrome, or if tumor screening results suggest a possible mismatch repair defect. It can help clarify inherited risk.
How the Sample Is Collected
A blood sample is collected from a vein, typically in your arm. In some situations other specimen types such as saliva may be acceptable, but the ordering laboratory determines what is appropriate for your case.
Understanding Your Results
Results are reported as positive (a mutation was found), negative (no mutation found), or a variant of uncertain significance (a change whose impact is unclear). A positive result does not mean you have cancer; it indicates increased risk that warrants discussion with your care team and a genetic counselor.
Reference range
Follicular: 1.5-9.0 mIU/mLN/A
For females: inform if menstrual cycle status. For certain tests, timing within menstrual cycle may matter.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying a mutation in MSH2, MLH1, or MSH6 can inform cancer risk assessment, guide screening recommendations, and help family members decide whether to pursue testing. Results should always be interpreted alongside personal and family history and by a qualified genetics professional.
Short name
Lynch Syndrome Gene Panel
Frequently asked questions
Does a positive result mean I have cancer?
Can this test find all causes of Lynch syndrome?
What is a variant of uncertain significance?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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