Microsatellite Instability Lynch Syndrome Colorectal Cancer Test
Understanding Microsatellite Instability Testing
Microsatellite Instability (MSI) testing represents a cornerstone in modern genetic oncology, specifically designed to detect DNA mismatch repair deficiencies that significantly increase cancer susceptibility. This sophisticated diagnostic approach plays a vital role in identifying Lynch syndrome, the most common hereditary form of colorectal cancer affecting approximately 1 in 300 individuals worldwide. The test’s importance extends beyond mere detection, providing critical information that influences treatment decisions, family planning, and long-term cancer surveillance strategies.
What Does the Test Measure?
The Microsatellite Instability test employs advanced fragment analysis technology to examine specific genetic markers known as microsatellites – short, repetitive DNA sequences scattered throughout the human genome. The test specifically evaluates:
- DNA mismatch repair system functionality
- Microsatellite stability patterns in tumor tissue
- Genetic markers associated with Lynch syndrome
- Hereditary cancer predisposition indicators
- Treatment response prediction markers
Sample Requirements and Methodology
This comprehensive analysis requires two sample types for optimal accuracy:
- Tumor Tissue: Paraffin-embedded tissue blocks from biopsy or surgical specimens
- Peripheral Blood: Collected in EDTA Vacutainer tubes (2ml minimum)
The fragment analysis methodology provides exceptional sensitivity and specificity, ensuring reliable results for clinical decision-making.
Who Should Consider This Test?
Several clinical scenarios warrant consideration of Microsatellite Instability testing:
Clinical Indications
- Individuals with personal history of colorectal cancer diagnosed before age 50
- Patients with multiple Lynch syndrome-associated cancers (endometrial, ovarian, gastric, etc.)
- Those with strong family history of colorectal or endometrial cancers
- Individuals with Amsterdam criteria or revised Bethesda guidelines
- Patients with abnormal immunohistochemistry results for mismatch repair proteins
- Those considering immunotherapy treatment options
Symptoms and Risk Factors
- Unexplained early-onset colorectal cancer
- Multiple primary cancers in same individual
- Family history spanning multiple generations
- Associated cancers including endometrial, ovarian, gastric, or urinary tract
- Sebaceous neoplasms or keratoacanthomas
Benefits of Microsatellite Instability Testing
Undergoing MSI testing provides numerous advantages for patients and healthcare providers:
Clinical Benefits
- Accurate Risk Assessment: Provides definitive information about hereditary cancer predisposition
- Personalized Surveillance: Enables tailored cancer screening protocols based on individual risk
- Treatment Guidance: Informs immunotherapy decisions and chemotherapy selection
- Family Planning: Offers valuable information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates proactive cancer prevention strategies
Patient-Centered Advantages
- Comprehensive genetic evaluation in a single test
- Rapid turnaround time (7-8 days)
- Non-invasive blood component alongside tissue analysis
- Expert interpretation by genetic specialists
- Access to genetic counseling resources
Understanding Your Test Results
Interpreting Microsatellite Instability results requires professional expertise, but general guidance includes:
Result Categories
- MSI-High: Indicates significant microsatellite instability, strongly suggestive of Lynch syndrome or mismatch repair deficiency
- MSI-Low: Shows minimal instability, requiring additional clinical correlation
- MSS (Microsatellite Stable): No significant instability detected, suggesting sporadic cancer origin
Clinical Implications
- Positive results may warrant additional genetic testing and family member screening
- Negative results provide reassurance but don’t completely rule out hereditary risk
- Results should always be interpreted in clinical context by qualified healthcare providers
- Genetic counseling is recommended for all positive results
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $376 |
| Regular Price | $500 |
National Coverage
GGC DNA maintains comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and Charlotte. Our nationwide network ensures accessible, high-quality genetic testing services for patients everywhere.
Take Control of Your Genetic Health
Early detection through Microsatellite Instability testing can significantly impact cancer prevention and treatment outcomes. Don’t wait to gain crucial insights into your genetic cancer risk profile. Our experienced team of genetic specialists and oncology experts are ready to guide you through the testing process and help interpret your results within the clinical context of your personal and family history.
Ready to Schedule Your Test?
Take the first step toward comprehensive cancer risk assessment. Contact our genetic counseling team today to discuss whether Microsatellite Instability testing is appropriate for your situation. Call us at +1(267) 388-9828 or use our convenient online booking system to schedule your appointment.
Important Pre-Test Information: Microsatellite Instability (Lynch Syndrome/Colorectal Cancer) testing requires a Doctor’s prescription. Prescription requirements do not apply for surgical cases, pregnancy-related testing, or individuals planning international travel. Our team can assist with prescription coordination if needed.
