Genetic test for mutations in MSH2, MLH1, MSH6, and PMS2 genes (blood)
This test checks for inherited mutations in genes linked to Lynch syndrome, a condition that increases risk for certain cancers.
["Identifies gene changes that may raise cancer risk and guide prevention or monitoring strategies."]
Key facts at a glance
- LOINC
- 76063-7
- Short code
- MSH2+MLH1+MSH6 gene Fam Mut Anl Bld/T
- Synonyms
- MSH2+MLH1+MSH6 gene Fam 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 Measures
The test analyzes DNA from your blood to detect specific mutations in four key genes: MSH2, MLH1, MSH6, and PMS2. These genes help repair errors in DNA, and mutations in them can lead to an increased risk of certain cancers, including colon, endometrial, and ovarian cancers.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of Lynch syndrome-related cancers, certain cancer diagnoses, or symptoms that suggest a genetic predisposition.
What to Expect Before the Test
No special preparation is needed. A simple blood draw will be performed by a healthcare professional. The test involves collecting a small amount of blood, which is then sent to a lab for genetic analysis.
What the Results Mean
Results will indicate whether mutations are present in the tested genes. Positive results suggest a higher risk of Lynch syndrome-related cancers and may guide further testing or monitoring. Negative results mean no obvious mutations were found in these genes, but other genetic factors could still be at play.
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.
Mutations in these genes are associated with Lynch syndrome, a hereditary condition that increases the risk of colorectal, endometrial, ovarian, and other cancers. Early detection and monitoring can help manage risk through lifestyle changes, regular screenings, or preventive surgeries.
Short name
Germline DNA Analysis (MSH2/MLH1/MSH6/PMS2)
Frequently asked questions
What does a positive result mean for my health?
Can I still get cancer even if I have these gene mutations?
How often will I need follow-up tests if my results are positive?
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