Genetic analysis for deletions/duplications involving the MSH2 gene and EPCAM gene (blood-derived DNA)
This test checks for genetic changes in the MSH2 and EPCAM genes, which are linked to hereditary non-polyposis colorectal cancer (HNPCC) risk. These genes help repair errors in DNA during cell division.
["This test helps assess your risk for certain cancers and guides personalized cancer prevention or monitoring plans."]
Key facts at a glance
- LOINC
- 89039-2
- Short code
- MSH2 DelDup+Full EPCAM 8+9 DelDup Bld/T
- Synonyms
- MSH2 DelDup+Full EPCAM 8+9 DelDup Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- 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 colorectal cancer, other cancers linked to HNPCC (such as endometrial, ovarian, or stomach cancer), or if you’ve been diagnosed with a type of cancer that runs in your family. It may also be used if you’ve already had cancer and want to understand your genetic risk better.
What to Expect Before the Test
You’ll provide a blood sample, which is usually taken from a vein in your arm. The process is quick and similar to getting blood drawn for other tests. No special preparation is needed, but inform your provider about any medications you’re taking.
What the Test Results Mean
If genetic changes (deletions or duplications) are found in MSH2 or EPCAM, it may indicate an increased risk for certain cancers. Your healthcare team will discuss how these results apply to your personal health and next steps, such as monitoring, preventive measures, or genetic counseling.
Common Questions About This Test
This test is not a routine screening for everyone. It’s typically ordered based on specific family history or medical history. Results will be reviewed by a genetic counselor or healthcare provider to help guide your care plan.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance: Genetic Testing for MSH2/EPCAM Changes
Short name
MSH2/EPCAM Deletion/Duplication Test
Frequently asked questions
How will my results affect my cancer risk?
Do I need to do anything special if I have positive results?
Can this test be used to diagnose cancer?
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