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Lynch Syndrome Mismatch Repair (MMR) IHC [MLH1, MLH2, MSH6 & PMS2] Test

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Lynch Syndrome Mismatch Repair (MMR) IHC [MLH1, MLH2, MSH6 & PMS2] Test

Short Name: MMR IHC

Also known as: Mismatch Repair Immunohistochemistry, MMR IHC Panel, Lynch Syndrome IHC, MLH1/MSH2/MSH6/PMS2 IHC

Lynch Syndrome Mismatch Repair (MMR) IHC [MLH1, MLH2, MSH6 & PMS2] Test test available at DNA Labs India for ₹14,000. Uses Immunohistochemistry (IHC) on Biopsy samples. Results in Reports are typically available within 8 days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

ImmunohistochemistryAdult🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the MMR IHC test is to screen for Lynch Syndrome in patients with colorectal or endometrial cancer, especially those diagnosed at a young age or with a strong family history. It helps determine whether the tumor exhibits mismatch repair deficiency (dMMR), which can be due to germline mutations or somatic hypermethylation. The test also aids in prognostic assessment and can influence treatment decisions, such as the use of immune checkpoint inhibitors in dMMR tumors.

Test Code
6308
CPT Code
88342
ICD Code
Z15.09
Price
₹14,000
Sample Type
Biopsy
Result Time
Reports are typically available within 8 days after the sample reaches the laboratory.
Fasting Required
No
Method
Immunohistochemistry (IHC)
Step 1

Sample Collection

No special preparation is required. Inform your doctor about any medications or supplements you are taking. Ensure that the biopsy specimen is collected by a qualified professional.

Method: Surgical biopsy or endoscopic biopsy

Step 2

Laboratory Analysis

The biopsy procedure is performed under local or general anesthesia, depending on the site. You may feel slight discomfort, but the procedure is generally safe.

Step 3

Report Delivery

After the biopsy, you may experience minor bleeding or soreness at the site. Follow your doctor's instructions for wound care. The tissue sample will be sent to the laboratory for analysis.

Timeline: Reports are typically available within 8 days after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed. Ensure you have discussed the test with your doctor and provided a complete family history.
2
During the Test:The test is performed on a biopsy sample already collected. No additional procedure is required for the test itself.
3
After the Test:You will receive your report in 8 days. Your doctor will discuss the results and next steps, which may include genetic counseling.

About This Test

Who Should Get This Test

The primary purpose of the MMR IHC test is to screen for Lynch Syndrome in patients with colorectal or endometrial cancer, especially those diagnosed at a young age or with a strong family history. It helps determine whether the tumor exhibits mismatch repair deficiency (dMMR), which can be due to germline mutations or somatic hypermethylation. The test also aids in prognostic assessment and can influence treatment decisions, such as the use of immune checkpoint inhibitors in dMMR tumors.

How to Prepare

  • Biopsy must be performed by a trained clinician
  • Tissue should be placed in 10% neutral buffered formalin immediately
  • Sample should be transported to the lab within 24 hours
  • Avoid freezing the tissue unless specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"MMR IHC is a crucial first-line screening test for Lynch Syndrome. Loss of protein expression in any of the four markers strongly suggests a germline mutation, guiding further genetic testing and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBiopsy
Sample VolumeTissue block or 5-10 unstained slides
ContainerFormalin-fixed paraffin-embedded (FFPE) block
Collection MethodSurgical biopsy or endoscopic biopsy

Sample Stability

Formalin-fixed tissue: stable for 7 days at room temperature
Paraffin-embedded block: stable for years at room temperature
Unfixed tissue: must be processed within 1 hour
Sample Rejection Criteria:
  • Inadequate tissue sample (less than 5 mm)
  • Extensive necrosis or crush artifact
  • Improper fixation (e.g., alcohol or saline)
  • Decalcified bone specimens

Understanding Your Results

The MMR IHC test results are interpreted based on the presence or absence of nuclear staining in tumor cells. Normal expression of all four proteins suggests a proficient MMR system (pMMR). Loss of expression of one or more proteins indicates a deficient MMR system (dMMR), which is associated with Lynch Syndrome.
📊

Loss of MLH1 and PMS2

Likely MLH1 mutation or promoter hypermethylation; further testing (BRAF mutation or MLH1 methylation) recommended

📊

Loss of MSH2 and MSH6

Likely MSH2 mutation; consider germline testing for MSH2 or EPCAM

📊

Isolated loss of MSH6

Likely MSH6 mutation; germline testing recommended

📊

Isolated loss of PMS2

Likely PMS2 mutation; germline testing recommended

📊

All proteins intact

Mismatch repair proficient; Lynch Syndrome unlikely, but not completely excluded

⚠️ When to Consult a Doctor:

If your MMR IHC test shows loss of expression in any of the proteins, it is essential to consult with an oncologist and a genetic counselor. They will guide you through confirmatory genetic testing and discuss surveillance and preventive strategies for you and your family.

Limitations

  • IHC cannot distinguish between germline and somatic mutations
  • Rare cases may have mutations without protein loss
  • Requires adequate tumor tissue for accurate interpretation
  • Results must be correlated with clinical and family history

Risks & Considerations

  • Biopsy procedure carries minimal risk of bleeding or infection
  • Rare possibility of inconclusive results requiring repeat testing

Interfering Factors

  • Improper tissue fixation may lead to false-negative results
  • Decalcification of bone specimens can degrade antigens
  • Necrotic tissue may show non-specific staining
  • Prior chemotherapy or radiation may alter protein expression

Compare With Similar Tests

TestLynch Syndrome Mismatch Repair (MMR) IHC [MLH1, MLH2, MSH6 & PMS2]MMR IHCMSI Testing
ComparisonLynch Syndrome Mismatch Repair (MMR) IHC [MLH1, MLH2, MSH6 & PMS2]

Frequently Asked Questions

What is the cost of the MMR IHC test?
The cost is INR 14000, which includes home sample collection and a detailed report.
What does MMR IHC test for?
It detects the presence or absence of four mismatch repair proteins (MLH1, MSH2, MSH6, PMS2) in tumor tissue to screen for Lynch Syndrome.
How is the sample collected?
A biopsy sample is collected from the tumor site by a qualified clinician. The tissue is then sent to the lab.
Is fasting required before the test?
No, fasting is not required for this test.
How long does it take to get results?
Reports are typically available within 8 days after the sample is received.
Can the test be done at home?
Yes, we offer free home sample collection for this test in many cities across India.
What if the test shows loss of MLH1 and PMS2?
This suggests a possible MLH1 mutation or hypermethylation. Further tests like BRAF mutation analysis or MLH1 methylation are recommended.
Is this test covered by insurance?
Insurance coverage varies. Please check with your insurance provider for details.
Who should consider this test?
Individuals with colorectal or endometrial cancer diagnosed before age 50, or those with a strong family history of Lynch-associated cancers.
What is the difference between MMR IHC and genetic testing?
MMR IHC looks at protein expression in tumor tissue, while genetic testing looks for mutations in DNA. IHC is often the first step, and genetic testing confirms the diagnosis.
Are there any risks associated with the biopsy?
The biopsy procedure carries minimal risks such as bleeding or infection, but these are rare.
Can this test be done on a blood sample?
No, this test requires tumor tissue (biopsy). Blood-based genetic testing is a separate test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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