MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test
Short Name: MMC Mutation Test
Also known as: Maternal Myopathy with Cardiomyopathy Test, TTN Gene Mutation Test, MMC Genetic Test
MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test test available at DNA Labs India for ₹11,500. Uses Polymerase Chain Reaction (PCR) on Whole blood samples. Results in 10 days from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the MMC Mutation Detection Test is to identify mutations in the TTN gene that cause Maternal Myopathy with Cardiomyopathy. This test aids in diagnosing the condition, guiding medical management during pregnancy, assessing family risk, and supporting genetic counseling for better health outcomes.
- Test Code
- 1254
- Price
- ₹11,500
- Sample Type
- Whole blood
- Result Time
- 10 days from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Polymerase Chain Reaction (PCR)
Sample Collection
Ensure the patient is informed about the test purpose and procedure. Complete the Genomics Clinical Information Requisition Form (Form 20) accurately. No fasting is required, but avoid strenuous activity before collection.
Method: Venipuncture
Laboratory Analysis
A healthcare professional will draw a blood sample from a vein, typically in the arm, using a needle and syringe. The sample is collected in a lavender top (EDTA) tube and labeled correctly.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. The sample is refrigerated and shipped to the laboratory. Monitor for any adverse reactions like dizziness or bruising.
Timeline: 10 days from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MMC Mutation Detection Test is to identify mutations in the TTN gene that cause Maternal Myopathy with Cardiomyopathy. This test aids in diagnosing the condition, guiding medical management during pregnancy, assessing family risk, and supporting genetic counseling for better health outcomes.
How to Prepare
- Use a lavender top (EDTA) tube for blood collection
- Collect 4 mL of whole blood (minimum 2 mL)
- Ship the sample refrigerated; do not freeze
- Ensure the Genomics Clinical Information Requisition Form (Form 20) is fully completed and submitted
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early detection of TTN mutations through genetic testing can guide personalized management during pregnancy and postpartum, improving outcomes for maternal and fetal health."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received frozen or at room temperature
- Insufficient volume (less than 2 mL)
- Hemolyzed or clotted blood sample
- Missing or incomplete Genomics Clinical Information Requisition Form
Understanding Your Results
Negative
No pathogenic variants detected in the TTN gene. Clinical correlation is advised if symptoms persist.
Positive
Pathogenic mutation detected in the TTN gene, confirming genetic basis for Maternal Myopathy with Cardiomyopathy. Further clinical evaluation and genetic counseling recommended.
Consult a doctor if you experience symptoms such as muscle weakness, fatigue, shortness of breath, or chest pain during pregnancy or postpartum. Also, seek medical advice if the test result is positive or if there is a family history of cardiomyopathy.
Limitations
- ⚠May not detect all genetic variants or mutations in the TTN gene
- ⚠False-negative results possible if mutation is not covered by the test
- ⚠Does not assess for other causes of myopathy or cardiomyopathy
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or hematoma
- ●Emotional distress from test results; genetic counseling recommended
Interfering Factors
- ●Hemolyzed or improperly stored blood samples
- ●Contamination during sample collection or transport
- ●Insufficient sample volume below 2 mL
- ●Failure to complete the Genomics Clinical Information Requisition Form
Compare With Similar Tests
| Test | MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test | Cardiomyopathy Genetic Panel | Muscle Biopsy | Cardiac MRI |
|---|---|---|---|---|
| Comparison | MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test |
Frequently Asked Questions
What is the MMC Mutation Detection Test?
Why is this test important for pregnant women?
What are the common symptoms of MMC?
How is the test performed?
What is the cost of the MMC Mutation Detection Test in India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What does a positive test result mean?
Is the test covered by insurance in India?
Can this test be done during pregnancy?
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What should I do after receiving the test results?
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₹20,000Reference Laboratory Services
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