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MSH2 Gene Mismatch repair cancer syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MSH2 Gene Mismatch repair cancer syndrome NGS Genetic Test

Short Name: MSH2 Mismatch Repair Syndrome NGS Test

Also known as: Lynch Syndrome, Hereditary Nonpolyposis Colorectal Cancer

MSH2 Gene Mismatch repair cancer syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the MSH2 gene that cause mismatch repair cancer syndrome, enabling early cancer risk assessment, personalized screening, and preventive interventions to reduce cancer incidence and improve patient outcomes.

Test Code
2900
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and undergo genetic counseling to understand the test implications.

Method: Venipuncture for blood; other methods for DNA extraction

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture, or alternative samples like extracted DNA or FTA card blood drops may be used.

Step 3

Report Delivery

The sample will be labeled, stored appropriately, and transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks, benefits, and implications; informed consent obtained.
2
During the Test:Sample collection (blood or DNA) and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery, and follow-up genetic counseling to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the MSH2 gene that cause mismatch repair cancer syndrome, enabling early cancer risk assessment, personalized screening, and preventive interventions to reduce cancer incidence and improve patient outcomes.

How to Prepare

  • Ensure proper patient identification and consent
  • Use sterile collection equipment to avoid contamination
  • Label samples accurately with patient details and test information
  • Follow standard phlebotomy procedures for blood collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for MSH2 mutations is crucial for individuals with a family history of Lynch syndrome to guide cancer screening and prevention strategies, potentially reducing cancer morbidity and mortality."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood; other methods for DNA extraction

Sample Stability

Blood: Stable for 24 hours at room temperature; refrigerate if delayed
Extracted DNA: Stable for several days at 4°C or longer at -20°C
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated or degraded samples

Understanding Your Results

Results from the MSH2 Gene NGS Genetic Test should be interpreted in the context of clinical history and family pedigree. Genetic counseling is essential to understand the implications.
Positive result: Pathogenic mutation detected, indicating increased cancer risk; recommend enhanced screening and preventive measures.
Negative result: No pathogenic variants found, but risk may still exist due to other genes or factors; continue standard screening if indicated.
Variant of uncertain significance (VUS): Mutation identified but clinical significance unknown; may require further testing or family studies.
Inconclusive result: Technical issues or insufficient data; repeat testing or alternative methods may be needed.
⚠️ When to Consult a Doctor:

Consult a geneticist or oncologist if you have a family history of cancer, symptoms suggestive of hereditary cancer syndrome, or after receiving test results for personalized management.

Limitations

  • May not detect all types of mutations, such as large deletions or deep intronic variants
  • Results require interpretation by a genetic counselor or healthcare provider
  • Not a standalone diagnostic test for cancer; clinical correlation is necessary
  • Variant of uncertain significance (VUS) may be identified, requiring further analysis

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of results, including anxiety or stress
  • Potential for incidental findings unrelated to MSH2

Interfering Factors

  • Sample degradation or contamination
  • Technical errors during sequencing
  • Insufficient DNA quality or quantity

Compare With Similar Tests

TestMSH2 Gene Mismatch repair cancer syndrome NGS Genetic TestMLH1 Gene TestBRCA1/2 Gene Test
ComparisonMSH2 Gene Mismatch repair cancer syndrome NGS Genetic TestSimilar NGS test for MLH1 gene mutations in Lynch syndrome; often performed together with MSH2 testing.Tests for hereditary breast and ovarian cancer; different genetic focus but similar methodology.

Frequently Asked Questions

What is MSH2 Gene Mismatch Repair Cancer Syndrome?
It is a hereditary condition caused by mutations in the MSH2 gene, leading to impaired DNA repair and increased risk of cancers like colorectal and endometrial cancer, often referred to as Lynch syndrome.
Who should consider getting this genetic test?
Individuals with a family history of Lynch syndrome, early-onset cancer, multiple cancers, or symptoms suggestive of hereditary cancer syndrome should consider testing after genetic counseling.
How is the MSH2 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the MSH2 gene from a blood or DNA sample, detecting mutations that may increase cancer risk.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the MSH2 gene, meaning an increased risk of developing certain cancers. Enhanced screening and preventive measures are recommended.
What does a negative test result mean?
A negative result means no pathogenic mutations were detected in the MSH2 gene, but it does not eliminate all cancer risk, as other genes or factors may be involved.
Is the MSH2 Gene Test covered by insurance in India?
Yes, it is often covered by insurance if there is a suspected hereditary condition or family history of cancer. Check with your insurance provider for specific coverage details.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection, and they can be accessed online, via email, or WhatsApp.
What are the risks associated with this genetic test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact from results. Genetic counseling helps mitigate these risks.
Can children undergo this genetic test?
Yes, children can be tested if there is a strong family history or clinical indication, but genetic counseling is essential to discuss implications and consent.
How accurate is the NGS genetic test for MSH2 mutations?
NGS is highly accurate for detecting mutations, but no test is 100% foolproof. Results should be interpreted by a genetic specialist in the context of clinical findings.
What should I do after receiving the test results?
Consult a genetic counselor or healthcare provider to understand the results, discuss cancer screening options, and develop a personalized prevention plan.
Where can I get the MSH2 Gene Test done in India?
DNA Labs India offers this test with home sample collection across major cities. You can book online or contact us for assistance.
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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LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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