MLH1 Germline Mutation Status (Full Analysis)
This test checks for mutations in the MLH1 gene, which is linked to inherited conditions that increase cancer risk. It helps determine if you may have a higher likelihood of developing certain cancers, such as colorectal or endometrial cancer.
["This test assesses genetic changes that could affect cancer risk and guide personalized healthcare decisions."]
Key facts at a glance
- LOINC
- 92676-6
- Short code
- MLH1 gene Del+Dup + Full Mut Anl Bld/T
- Synonyms
- MLH1 gene Del+Dup + Full 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
Why This Test Might Be Ordered
Your doctor may recommend this test if you have a family history of certain cancers, such as colorectal, endometrial, or ovarian cancer. It may also be suggested if you’ve been diagnosed with a type of cancer that often runs in families or if you’re part of a genetic testing program for hereditary cancer syndromes.
What the Test Measures
The MLH1 gene helps repair errors in DNA during cell division. Mutations in this gene can prevent proper DNA repair, increasing the risk of cancer. This test identifies whether you carry a full mutation in the MLH1 gene, which could indicate a hereditary predisposition.
How the Test Works
A small sample of blood is taken to analyze DNA from your white blood cells. Advanced laboratory techniques detect any changes (mutations) in the MLH1 gene sequence. This is not a routine screening test but is part of targeted genetic evaluation.
What the Results Mean
If the test shows a full mutation in the MLH1 gene, it suggests you may have an increased risk of certain cancers. This finding may prompt further testing or monitoring, as well as recommendations for cancer prevention strategies.
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.
A positive result for a full MLH1 mutation means you may be at higher risk for Lynch syndrome-related cancers, such as colorectal, endometrial, or ovarian cancer. This genetic information can help guide screening, surveillance, or preventive measures, such as regular cancer screenings or medications to reduce risk. Discuss your results with your healthcare provider to understand next steps tailored to your health.
Short name
MLH1 Gene Mutation Test
Frequently asked questions
What Does a Positive Result Mean?
Will This Test Show All Types of Cancer Risk?
How Often Should I Get This Test Retested?
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