Lynch Syndrome Mismatch Repair MMR IHC MLH1 MSH2 MSH6 PMS2 Test
Understanding Lynch Syndrome and Mismatch Repair Testing
Lynch Syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is an inherited genetic condition that significantly increases an individual’s risk of developing colorectal cancer, endometrial cancer, and several other types of cancer. The Lynch Syndrome Mismatch Repair (MMR) IHC test is a sophisticated diagnostic tool that plays a critical role in identifying individuals with this hereditary condition, enabling proactive cancer prevention and early intervention strategies.
What is Mismatch Repair and Why It Matters
Mismatch repair is a fundamental cellular process that corrects errors occurring during DNA replication. When this repair system malfunctions due to genetic mutations in MMR genes, DNA errors accumulate rapidly, leading to microsatellite instability (MSI) and significantly increased cancer risk. The MMR IHC test specifically evaluates the presence and function of four essential DNA repair proteins: MLH1, MSH2, MSH6, and PMS2.
What the Test Measures and Detects
This comprehensive immunohistochemistry (IHC) test evaluates the expression patterns of four critical DNA mismatch repair proteins:
- MLH1 Protein: Assesses the presence and nuclear localization of MutL Homolog 1 protein
- MSH2 Protein: Evaluates MutS Homolog 2 protein expression and function
- MSH6 Protein: Tests for MutS Homolog 6 protein integrity
- PMS2 Protein: Examines Postmeiotic Segregation Increased 2 protein status
The test detects abnormal protein expression patterns that indicate potential Lynch Syndrome, helping identify individuals who may benefit from genetic counseling and confirmatory genetic testing.
Who Should Consider This Test
This test is particularly important for individuals who meet any of the following criteria:
Clinical Indications and Risk Factors
- Personal history of colorectal cancer diagnosed before age 50
- Family history of Lynch Syndrome-associated cancers
- Multiple primary Lynch Syndrome-related cancers in the same individual
- Colorectal cancer with tumor-infiltrating lymphocytes or specific histological features
- Endometrial cancer diagnosed before age 50
- Individuals with a first-degree relative diagnosed with Lynch Syndrome
- Patients with colorectal cancer showing high microsatellite instability
- Those with a family history meeting Amsterdam or Bethesda criteria
Benefits of Taking the Lynch Syndrome MMR Test
Early Detection and Prevention
Identifying Lynch Syndrome through MMR IHC testing provides numerous critical benefits:
- Proactive Cancer Screening: Enables targeted surveillance for at-risk individuals
- Family Health Planning: Identifies relatives who may benefit from testing
- Personalized Prevention Strategies: Guides appropriate screening intervals and methods
- Treatment Guidance: Informs therapeutic decisions for cancer patients
- Risk Reduction: Facilitates preventive measures and lifestyle modifications
- Psychological Relief: Provides clarity and reduces uncertainty about cancer risk
Understanding Your Test Results
Interpreting MMR Protein Expression
Your test results will indicate the expression status of each MMR protein:
- Normal Expression: All four proteins show intact nuclear staining, suggesting normal MMR function
- Abnormal Expression: Loss of one or more proteins indicates potential Lynch Syndrome
- MLH1/PMS2 Loss: Often associated with MLH1 gene mutations
- MSH2/MSH6 Loss: Typically indicates MSH2 gene abnormalities
- Isolated MSH6 Loss: Suggests MSH6 gene mutations
- Isolated PMS2 Loss: Points to PMS2 gene defects
Next Steps After Testing
Abnormal results should be followed by genetic counseling and confirmatory genetic testing. Normal results provide reassurance but don’t completely rule out Lynch Syndrome in all cases. Your healthcare provider will discuss the implications of your specific results and recommend appropriate follow-up care.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Lynch Syndrome Mismatch Repair MMR IHC MLH1 MSH2 MSH6 PMS2 Test |
| Regular Price | $426 USD |
| Discount Price | $350 USD |
| Turnaround Time | 8 days |
| Sample Type | Biopsy |
| Test Components | MLH1, MSH2, MSH6, PMS2 |
Nationwide Availability and Booking
General Genetics Corporation provides comprehensive Lynch Syndrome testing services across the United States. We have conveniently located branches in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories and experienced oncology specialists ensure accurate and reliable results.
Take Control of Your Genetic Health
Don’t wait to understand your cancer risk profile. Early detection of Lynch Syndrome can save lives and provide peace of mind for you and your family. Our dedicated genetic counselors and oncology specialists are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your Lynch Syndrome MMR IHC test and take the first step toward proactive cancer prevention.
Invest in your health and your family’s future with comprehensive genetic cancer screening from General Genetics Corporation – your trusted partner in precision medicine and preventive healthcare.
