MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test
Short Name: MSH2 Gene NGS Test
Also known as: HNPCC Type 1, Lynch Syndrome, Hereditary Nonpolyposis Colorectal Cancer Type 1
MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the MSH2 Gene NGS Genetic Test is to identify pathogenic mutations in the MSH2 gene that cause Hereditary Nonpolyposis Colorectal Cancer Type 1 (Lynch syndrome). This test helps assess the genetic risk for colorectal cancer, enabling early detection, personalized management, and informed decision-making for patients and their families.
- Test Code
- 2856
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members. Ensure proper identification and prescription.
Method: Venipuncture
Laboratory Analysis
Blood sample is drawn via venipuncture from a vein in the arm. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site with a bandage. Store samples appropriately for transport to the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MSH2 Gene NGS Genetic Test is to identify pathogenic mutations in the MSH2 gene that cause Hereditary Nonpolyposis Colorectal Cancer Type 1 (Lynch syndrome). This test helps assess the genetic risk for colorectal cancer, enabling early detection, personalized management, and informed decision-making for patients and their families.
How to Prepare
- No specific fasting required, but follow any pre-test instructions from the physician
- Bring valid identification and test prescription
- Inform the healthcare provider about any medications or health conditions
- Ensure sample is labeled correctly to avoid rejection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for identifying hereditary risk factors for colorectal cancer, enabling early intervention and personalized care for patients and families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated or degraded samples
Understanding Your Results
No pathogenic variants detected in the MSH2 gene. This reduces but does not eliminate the risk of colorectal cancer. Continue routine screening as per guidelines.
Result type: Negative
A pathogenic variant in the MSH2 gene is detected, confirming a diagnosis of Lynch syndrome. Increased risk for colorectal and other cancers. Recommend enhanced surveillance, genetic counseling, and family testing.
Result type: Positive
A genetic variant is detected, but its clinical significance is unknown. Further testing and family studies may be needed. Consult a genetic counselor for guidance.
Result type: Variant of Uncertain Significance (VUS)
Consult a doctor or genetic counselor if results are positive, if there is a family history of colorectal cancer or Lynch syndrome, or if you have concerns about your cancer risk. Early consultation can help plan appropriate screening and preventive measures.
Limitations
- ⚠Does not detect all possible genetic variants or mutations in other genes
- ⚠May require confirmatory testing with alternative methods
- ⚠Results have implications for family members and may cause psychological impact
- ⚠Limited to MSH2 gene analysis; does not cover other Lynch syndrome genes
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or soreness at the puncture site
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential implications for insurance or employment, though legal protections may apply
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Technical errors in NGS sequencing or analysis
Compare With Similar Tests
| Test | MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test | MLH1 Gene NGS Test | PMS2 Gene NGS Test | Colonoscopy | Fecal Occult Blood Test (FOBT) |
|---|---|---|---|---|---|
| Comparison | MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test | Tests for mutations in the MLH1 gene, another cause of Lynch syndrome. Often performed alongside MSH2 test for comprehensive screening. | Detects mutations in the PMS2 gene associated with Lynch syndrome. Part of multi-gene panel testing. | A diagnostic procedure to visualize the colon and rectum. Used for screening and diagnosis of colorectal cancer, but does not detect genetic mutations. | A non-invasive test to detect hidden blood in stool, indicating possible colorectal issues. It is a screening tool, not a genetic test. |
Frequently Asked Questions
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