Medullary Thyroid Carcinoma Mutation Detection Test
Short Name: MTC Mutation Detection Test
Also known as: RET Gene Mutation Test, MTC Genetic Test, Familial MTC Test
Medullary Thyroid Carcinoma Mutation Detection Test test available at DNA Labs India for ₹20,000. Uses PCR on Whole blood samples. Results in 10 Working days from sample receipt. 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 detect mutations in the RET gene to identify individuals at high risk for Medullary Thyroid Carcinoma, facilitating early diagnosis, genetic counseling, and preventive measures to improve patient outcomes.
- Test Code
- 1220
- Price
- ₹20,000
- Sample Type
- Whole blood
- Result Time
- 10 Working days from sample receipt
- Fasting Required
- No
- Method
- PCR
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed. No fasting is required, but inform the lab of any medications or health conditions.
Method: Venipuncture
Laboratory Analysis
A blood sample of 4 mL will be collected from a vein in the arm using standard venipuncture techniques with a lavender top EDTA tube.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Store the sample refrigerated and ship as per instructions.
Timeline: 10 Working days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the RET gene to identify individuals at high risk for Medullary Thyroid Carcinoma, facilitating early diagnosis, genetic counseling, and preventive measures to improve patient outcomes.
How to Prepare
- Fill and sign the Genomics Clinical Information Requisition Form (Form 20)
- Collect 4 mL whole blood in a lavender top EDTA tube
- Ship refrigerated; do not freeze
- Ensure sample is labeled correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for families with a history of MTC or related syndromes to assess genetic risk and guide preventive thyroid management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Incorrect tube type or container
- Missing or incomplete requisition form
- Sample hemolyzed or contaminated
Understanding Your Results
Mutation Detected
High risk for MTC; recommend genetic counseling, family screening, and possible prophylactic measures.
Action: Consult an oncologist or endocrinologist for further evaluation and management.
No Mutation Detected
No RET gene mutation identified; but clinical symptoms may warrant further investigation.
Action: Discuss with physician for additional testing if symptoms persist.
Consult a doctor if you experience symptoms of MTC, have a family history of thyroid cancer or MEN syndromes, or if test results indicate a mutation. Early consultation can guide preventive care and treatment.
Limitations
- ⚠Test only detects known mutations in the RET gene
- ⚠Cannot identify all genetic or environmental causes of MTC
- ⚠Results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●Minor pain or bruising at the puncture site
- ●Rare risk of infection or fainting during blood draw
Interfering Factors
- ●Sample degradation due to improper storage
- ●Contamination during collection or processing
- ●Low DNA yield from sample
Compare With Similar Tests
| Test | Medullary Thyroid Carcinoma Mutation Detection Test | Calcitonin Blood Test | CEA Blood Test | Thyroid Ultrasound |
|---|---|---|---|---|
| Comparison | Medullary Thyroid Carcinoma Mutation Detection Test | Measures calcitonin hormone levels; elevated levels may indicate MTC but do not confirm genetic mutation. | Carcinoembryonic antigen test; used as a tumor marker for MTC but not specific to genetics. | Imaging test to visualize thyroid nodules; helps detect physical abnormalities but not genetic mutations. |
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