MLH1 Gene Mismatch repair cancer syndrome NGS Genetic Test
Short Name: MLH1 Gene Test
Also known as: Lynch Syndrome Genetic Test, MLH1 Mutation Test, Mismatch Repair Deficiency Test
MLH1 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 3-4 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 MLH1 Gene Mismatch Repair Cancer Syndrome NGS Genetic Test is to detect mutations in the MLH1 gene that indicate an increased risk for hereditary cancer syndromes, such as Lynch syndrome. This test aids in early diagnosis, risk assessment, and guiding personalized medical management, including enhanced surveillance, preventive measures, and targeted therapies for individuals and families with a history of cancer.
- Test Code
- 2903
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required, but inform the healthcare provider about any medications, recent transfusions, or medical history. Genetic counseling is recommended prior to testing.
Method: Venipuncture or Saliva Collection
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a saliva sample will be collected using a kit. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store samples as instructed if self-collected.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MLH1 Gene Mismatch Repair Cancer Syndrome NGS Genetic Test is to detect mutations in the MLH1 gene that indicate an increased risk for hereditary cancer syndromes, such as Lynch syndrome. This test aids in early diagnosis, risk assessment, and guiding personalized medical management, including enhanced surveillance, preventive measures, and targeted therapies for individuals and families with a history of cancer.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection tubes or FTA cards as provided
- Avoid eating or drinking for 30 minutes before saliva collection if applicable
- Follow home collection kit instructions carefully if using that service
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MLH1 mutations is crucial for early cancer detection and personalized management in high-risk families, potentially guiding preventive strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed blood samples
- Improperly labeled or unlabeled samples
- Samples stored beyond stability period
Understanding Your Results
Negative
No pathogenic variant detected in the MLH1 gene. This suggests a lower genetic risk for mismatch repair cancer syndrome, but cancer risk may still exist due to other factors. Continued surveillance may be recommended based on family history.
Positive
A pathogenic variant was detected in the MLH1 gene, indicating an increased risk for hereditary cancer syndromes like Lynch syndrome. This warrants enhanced cancer screening, preventive measures, and genetic counseling for family members.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing, family studies, or research may be needed to clarify its impact on cancer risk.
Consult a doctor or genetic counselor if you have a family history of cancer, receive a positive or VUS result, experience symptoms like rectal bleeding or abdominal pain, or need guidance on cancer prevention and screening strategies.
Limitations
- ⚠This test may not detect all possible mutations in the MLH1 gene, including deep intronic or regulatory variants
- ⚠Results require interpretation by a qualified geneticist or healthcare provider
- ⚠A negative result does not eliminate cancer risk entirely, as other genetic or environmental factors may contribute
- ⚠Test accuracy depends on sample quality and laboratory conditions
Risks & Considerations
- ●Minimal physical risks from blood draw, such as bruising or discomfort
- ●Psychological impact, including anxiety or stress related to results
- ●Potential for insurance or discrimination issues, though legal protections may apply
- ●Risk of misinterpretation without professional guidance
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Recent blood transfusions or stem cell transplants may affect results
- ●Technical limitations in detecting all types of genetic variants
Frequently Asked Questions
What is the MLH1 gene?
What is mismatch repair cancer syndrome?
Who should consider getting the MLH1 gene test?
How is the MLH1 gene test performed?
What do the test results mean?
Is the test painful or risky?
How long does it take to get results?
Can the test be done at home?
What should I do after receiving a positive result?
Is genetic counseling required before testing?
Does a negative result mean I have no cancer risk?
How accurate is the MLH1 gene test?
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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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