MLH1 Gene Muir-Torre syndrome NGS Genetic Test
Short Name: MLH1 Muir-Torre NGS Test
Also known as: MLH1 gene test for Muir-Torre syndrome, Lynch syndrome genetic test, Hereditary cancer NGS test
MLH1 Gene Muir-Torre 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. 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 this test is to identify mutations in the MLH1 gene that cause Muir-Torre syndrome and Lynch syndrome, helping assess hereditary cancer risk for early intervention and personalized healthcare planning.
- Test Code
- 2906
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and family pedigree during genetic counseling. No specific preparation is required, but inform the lab of any medications or recent transfusions.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Blood sample is collected via venipuncture from a vein in the arm, or a drop of blood is applied to an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the MLH1 gene that cause Muir-Torre syndrome and Lynch syndrome, helping assess hereditary cancer risk for early intervention and personalized healthcare planning.
How to Prepare
- Ensure the patient is relaxed and hydrated for blood draw
- Use sterile equipment and follow aseptic techniques
- Label the sample correctly with patient details
- For FTA card, air-dry the blood spot before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MLH1 mutations is crucial for identifying individuals at risk of Muir-Torre syndrome and related cancers, enabling personalized screening and preventive strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Incorrect labeling or missing patient information
- Sample contamination or improper storage
Understanding Your Results
Indicates a mutation in the MLH1 gene, increasing the risk of Muir-Torre syndrome and associated cancers. Further screening and management are recommended.
Result type: Positive (Pathogenic variant detected)
No mutations found in the MLH1 gene, but risk may still exist due to other genetic or environmental factors. Continue regular screening as advised.
Result type: Negative (No pathogenic variants detected)
A genetic variant was identified, but its clinical significance is unknown. Additional testing and family studies may be needed for clarification.
Result type: Variant of Uncertain Significance (VUS)
Consult a geneticist, oncologist, or healthcare provider if the test is positive, if symptoms of Muir-Torre syndrome appear (e.g., skin tumors), or for personalized cancer risk management based on results.
Limitations
- ⚠May not detect all types of mutations, including large genomic rearrangements
- ⚠Variants of uncertain significance (VUS) may be identified, requiring further interpretation
- ⚠Does not rule out other genetic or environmental factors contributing to cancer risk
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing or analysis
Frequently Asked Questions
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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