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PMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test

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PMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test

Also known as: PMS2-Related Lynch Syndrome, Mismatch Repair Cancer Syndrome

PMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the PMS2 gene for assessing hereditary cancer risk, guiding preventive care, and informing family planning decisions.

Test Code
2904
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required; genetic counseling recommended prior to testing.

Method: Venipuncture for blood, or FTA card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card application by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; store samples as per guidelines.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, family history, and consent for testing.
2
During the Test:Sample collection and laboratory analysis using NGS technology.
3
After the Test:Report delivery, genetic counseling for result interpretation, and planning for follow-up care.

About This Test

Who Should Get This Test

To identify mutations in the PMS2 gene for assessing hereditary cancer risk, guiding preventive care, and informing family planning decisions.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection equipment
  • Follow kit instructions for FTA card samples

Doctor's Notes

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

"This test is crucial for individuals with a family history of Lynch syndrome to assess cancer risk and guide preventive measures, such as enhanced screening or prophylactic surgeries."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture for blood, or FTA card application

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PMS2 gene, which are linked to increased cancer risk.
Normal Result: No pathogenic variants detected; standard cancer screening recommended based on age and family history.
Abnormal Result: Pathogenic variant detected; indicates elevated risk for PMS2-related cancers; consult a genetic counselor for personalized management.
⚠️ When to Consult a Doctor:

If results are abnormal, or if there is a strong family history of cancer, consult a healthcare professional for further evaluation and preventive measures.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not predict cancer onset with certainty

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of results, requiring genetic counseling support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestPMS2 Gene Mismatch repair cancer syndrome NGS Genetic TestMLH1 Gene TestMSH2 Gene TestComprehensive Lynch Syndrome Panel
ComparisonPMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test

Frequently Asked Questions

What is the PMS2 Gene Mismatch Repair Cancer Syndrome NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the PMS2 gene, which are associated with an increased risk of hereditary cancers like colorectal and endometrial cancer.
Who should consider taking this test?
Individuals with a family history of Lynch syndrome, early-onset cancer, or those recommended by a genetic counselor for hereditary cancer risk assessment.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify mutations in the PMS2 gene.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the PMS2 gene, which increases cancer risk; genetic counseling is essential for management planning.
What does a negative result mean?
A negative result means no pathogenic mutations were detected, but it does not eliminate all cancer risks; regular screenings may still be advised.
Is genetic counseling required before testing?
Yes, genetic counseling is strongly recommended to understand the implications, benefits, and limitations of the test.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered across India for online bookings.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw; psychological impact may occur, so genetic counseling is provided.
Can this test detect all PMS2 mutations?
While NGS is comprehensive, it may not detect all mutation types, such as large deletions; additional tests might be needed in some cases.
How accurate is the test?
The test is highly accurate using NGS technology, but results should be interpreted by a qualified genetic counselor or healthcare professional.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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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