PMS2 Gene Colorectal cancer, hereditary nonpolyposis type 4 NGS Genetic Test
Short Name: PMS2 Gene HNPCC Type 4 NGS Test
Also known as: PMS2 Gene HNPCC Test, Hereditary Nonpolyposis Colorectal Cancer Type 4 Genetic Test, Lynch Syndrome Type 4 Genetic Test
PMS2 Gene Colorectal cancer, hereditary nonpolyposis type 4 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the PMS2 gene, which are associated with Hereditary Nonpolyposis Colorectal Cancer Type 4 (HNPCC Type 4). Identifying these mutations helps assess an individual's genetic risk for colorectal cancer, enabling early intervention, tailored surveillance strategies, and informed family planning decisions.
- Test Code
- 2855
- 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
A genetic counseling session is recommended to draw a pedigree chart of family members affected with colorectal cancer or related conditions. Provide clinical history of the patient, including any symptoms or family history.
Method: Blood draw or cheek swab
Laboratory Analysis
Sample collection involves a simple blood draw from a vein or a cheek swab. The process is quick and minimally invasive, performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site if blood is drawn. No specific post-collection care is required. Results will be available in 3 to 4 weeks via online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the PMS2 gene, which are associated with Hereditary Nonpolyposis Colorectal Cancer Type 4 (HNPCC Type 4). Identifying these mutations helps assess an individual's genetic risk for colorectal cancer, enabling early intervention, tailored surveillance strategies, and informed family planning decisions.
How to Prepare
- Schedule a genetic counseling session before testing.
- Provide detailed clinical and family history.
- Ensure sample is collected in a sterile environment.
- For blood samples, use the provided collection tube or FTA card.
- Label the sample correctly with patient details.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for individuals with a family history of colorectal cancer to assess genetic risk and guide preventive measures, such as increased surveillance or prophylactic interventions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
No pathogenic variants detected
Low genetic risk for HNPCC Type 4 based on PMS2 gene analysis. Continue routine screenings as recommended by your doctor.
Pathogenic or likely pathogenic variant detected
Increased genetic risk for colorectal cancer and other Lynch syndrome-associated cancers. Enhanced surveillance and preventive measures are advised.
Variant of uncertain significance (VUS)
The clinical significance is unclear. Genetic counseling and possibly additional testing are recommended for clarification.
Consult a doctor if you have a family history of colorectal cancer, experience symptoms like changes in bowel habits or blood in stool, or receive a positive genetic test result. Genetic counseling is advised for all individuals considering or undergoing this test.
Limitations
- ⚠This test only detects mutations in the PMS2 gene; other genes associated with Lynch syndrome are not covered.
- ⚠Results may require confirmation with additional testing methods.
- ⚠Genetic variants of uncertain significance (VUS) may be identified, requiring further evaluation.
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site.
- ●Psychological impact from test results, which may cause anxiety or stress.
Frequently Asked Questions
What is the PMS2 Gene Colorectal Cancer NGS Genetic Test?
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What is the cost of the test?
Is home sample collection available?
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Is genetic counseling required before testing?
What are the risks of the test?
Can this test detect all mutations related to colorectal cancer?
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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.
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