MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test
Short Name: MT-TE Mitochondrial Myopathy NGS Test
Also known as: MT-TE Gene Mutation Test, Mitochondrial Myopathy Genetic Test, MT-TE Related Myopathy NGS Test
MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 detect mutations in the MT-TE gene using NGS technology for the diagnosis and management of mitochondrial myopathy, particularly infantile and transient forms. It aids in confirming genetic causes, guiding treatment decisions, and providing information for family planning and genetic counseling.
- Test Code
- 5272
- 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 Technology
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members. No fasting is required.
Method: Venipuncture or blood drop
Laboratory Analysis
A blood sample is collected via venipuncture or a blood drop on an FTA card. The process is minimally invasive and quick.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Store the sample as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the MT-TE gene using NGS technology for the diagnosis and management of mitochondrial myopathy, particularly infantile and transient forms. It aids in confirming genetic causes, guiding treatment decisions, and providing information for family planning and genetic counseling.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at room temperature or as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MT-TE mutations is crucial for confirming diagnosis and guiding treatment in mitochondrial myopathy cases, especially in infants with symptoms like muscle weakness and feeding difficulties."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms MT-TE gene mutation; correlate with clinical symptoms for diagnosis. Genetic counseling recommended for management and family planning.
No pathogenic variant detected
MT-TE gene mutation not identified; consider other genetic or non-genetic causes. Clinical follow-up advised.
Consult a doctor or genetic counselor if symptoms such as muscle weakness, poor feeding, or developmental delays persist, or if there is a family history of mitochondrial disorders. After receiving test results, seek professional guidance for interpretation and management.
Limitations
- ⚠May not detect all genetic variants or mutations outside the MT-TE gene
- ⚠Results require clinical correlation and genetic counseling
- ⚠Turnaround time of 3-4 weeks may delay diagnosis
- ⚠Does not rule out other mitochondrial or genetic disorders
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test | MT-TL1 Gene Test | Whole Exome Sequencing | Muscle Biopsy | Lactate Level Test |
|---|---|---|---|---|---|
| Comparison | MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test |
Frequently Asked Questions
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