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PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic Test

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PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic Test

Short Name: PMS1 Gene Test

Also known as: PMS1-related Hereditary Colon Cancer Test, PMS1 Gene Mutation Analysis, Hereditary Colon Cancer NGS Test

PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the PMS1 gene associated with hereditary nonpolyposis colon cancer (HNPCC). It aids in confirming diagnosis, assessing cancer risk, guiding surveillance strategies, and informing family planning decisions.

Test Code
2915
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
Yes (8 hours)
Method
NGS Technology
Step 1

Sample Collection

Ensure genetic counseling is completed and clinical history is documented. No specific dietary restrictions, but fasting for 8 hours may be required for optimal sample quality.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture or a drop of blood placed on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store the sample as per instructions if self-collected.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide detailed family medical history. Ensure fasting if required and avoid recent blood transfusions.
2
During the Test:A small blood sample is collected via venipuncture or using an FTA card. The procedure takes about 10-15 minutes.
3
After the Test:Resume normal activities. Results will be available in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PMS1 gene associated with hereditary nonpolyposis colon cancer (HNPCC). It aids in confirming diagnosis, assessing cancer risk, guiding surveillance strategies, and informing family planning decisions.

How to Prepare

  • Fast for 8 hours before blood draw if required
  • Use sterile equipment for sample collection
  • Label samples correctly with patient details
  • Transport samples at ambient temperature unless specified otherwise

Doctor's Notes

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

"This test is crucial for early detection and management of hereditary colon cancer, especially in individuals with a family history or symptoms suggestive of PMS1 gene mutations."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL Blood
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or FTA Card Spot

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
FTA Card samples: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Incorrect labeling or missing patient information
  • Samples not stored or transported as per guidelines

Understanding Your Results

Results indicate the presence or absence of mutations in the PMS1 gene. A positive result suggests an increased risk of hereditary colon cancer, while a negative result may reduce risk but does not eliminate it entirely.
Positive result: Confirms PMS1 gene mutation; recommend enhanced surveillance (e.g., frequent colonoscopies) and genetic counseling for family members
Negative result: No pathogenic variant detected; consider other genetic tests if clinical suspicion remains
Variant of uncertain significance (VUS): Requires further evaluation and may not be actionable; follow-up testing recommended
Consult a genetic counselor or oncologist for personalized risk management based on results
⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of colon cancer, experience symptoms like blood in stool or unexplained weight loss, or receive a positive genetic test result for further management and screening.

Limitations

  • May not detect all types of PMS1 gene mutations, such as large deletions or deep intronic variants
  • Results require correlation with clinical and family history for accurate interpretation
  • Does not rule out other genetic causes of hereditary colon cancer

Risks & Considerations

  • Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
  • Psychological impact from genetic results; counseling is recommended

Interfering Factors

  • Contaminated or degraded DNA samples
  • Recent blood transfusions affecting DNA analysis
  • Technical errors in sample collection or processing

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Frequently Asked Questions

What is the PMS1 gene?
The PMS1 gene produces a protein involved in DNA mismatch repair, helping correct errors during DNA replication. Mutations can impair this function, increasing cancer risk.
Who should consider this test?
Individuals with a family history of hereditary colon cancer, early-onset colon cancer symptoms, or known Lynch syndrome in the family should consider this test.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the PMS1 gene from a blood or DNA sample.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the PMS1 gene, increasing the risk of hereditary colon cancer. Enhanced surveillance and genetic counseling are recommended.
Is fasting required for this test?
Yes, fasting for 8 hours is recommended before blood collection to ensure optimal sample quality.
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 available for online bookings across many cities in India.
What is the cost of the test?
The test costs INR 20000, with no additional charges for home collection in eligible areas.
Can this test detect all mutations?
While NGS is comprehensive, it may not detect all types of mutations, such as large deletions. Clinical correlation is essential.
What should I do after receiving results?
Consult a genetic counselor or oncologist to interpret results and discuss appropriate screening and management strategies.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer for specific details.
How accurate is this test?
NGS technology is highly accurate for detecting point mutations and small insertions/deletions, but accuracy depends on sample quality and laboratory standards.
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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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.

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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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