MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic Test
Short Name: MT-TR Encephalomyopathy NGS
Also known as: MT-TR Gene Encephalomyopathy Genetic Test, Mitochondrial MT-TR NGS Panel, Encephalomyopathy Mitochondrial Gene Sequencing
MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related 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 Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time may slightly vary during festive seasons or remote locations.. 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 this NGS genetic test is to identify pathogenic mutations in the MT-TR gene and the complete mitochondrial genome, thereby confirming the diagnosis of MT-TR related encephalomyopathy, facilitating early intervention, and enabling informed family planning. The test also supports the clinician in distinguishing mitochondrial disorders from other neuromuscular conditions.
- Test Code
- 4052
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time may slightly vary during festive seasons or remote locations.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Please carry any previous clinical records, brain MRI reports, and results of prior biochemical testing. A genetic counselling session will be scheduled to draw a family pedigree.
Method: Peripheral venipuncture or fingerstick
Laboratory Analysis
A trained phlebotomist will collect a simple blood sample (or FTA spot / extracted DNA). The procedure is safe and takes less than 5 minutes.
Report Delivery
No specific precautions are needed. The sample will be transported to the laboratory under controlled conditions. You may resume normal activities immediately.
Timeline: Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time may slightly vary during festive seasons or remote locations.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the MT-TR gene and the complete mitochondrial genome, thereby confirming the diagnosis of MT-TR related encephalomyopathy, facilitating early intervention, and enabling informed family planning. The test also supports the clinician in distinguishing mitochondrial disorders from other neuromuscular conditions.
How to Prepare
- For blood: collect in EDTA tube under aseptic precautions
- For FTA card: apply one drop of blood onto the card and air dry
- For extracted DNA: provide at least 5 µg in sterile DNase-free tube
- Label the sample with patient name, date of birth, and collection time
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"For couples with a family history of mitochondrial disorders, genetic counselling and segregation analysis are essential to understand maternal inheritance patterns and reproductive risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or lipemic sample
- Insufficient sample quantity
- Improperly labelled sample
- Sample received in non-EDTA tube
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MT-TR related mitochondrial encephalomyopathy. Inform maternal relatives and consider reproductive counselling.
Likely pathogenic variant detected
High suspicion for pathogenicity. Clinical correlation and family segregation studies are recommended.
Variant of uncertain significance (VUS)
Cannot classify at present. Further testing of family members and functional studies may be needed.
No pathogenic variant detected
No MT-TR mutation identified. Consider other genetic causes or non-genetic aetiologies.
Consult a neurologist or clinical geneticist if you or your child experience unexplained seizures, developmental regression, muscle weakness, or visual/hearing impairment, especially if there is a family history of encephalomyopathy or mitochondrial disorder.
Limitations
- ⚠NGS may not reliably detect large mitochondrial deletions or structural variants
- ⚠Low-level heteroplasmy (<10%) may be below the detection threshold
- ⚠Variants of uncertain significance may require additional functional studies
- ⚠A negative result does not completely exclude mitochondrial disease caused by nuclear genes or other mechanisms
Risks & Considerations
- ●Minor pain or bruising at the blood collection site
- ●No significant medical risks associated with the test itself
Interfering Factors
- ●Sample hemolysis or DNA degradation
- ●Low heteroplasmy level (<10%) may be missed
- ●Recent blood transfusion (contamination with donor DNA)
- ●Presence of nuclear mitochondrial pseudogenes (NUMTs)
Compare With Similar Tests
| Test | MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing | Mitochondrial Genome NGS Panel |
|---|---|---|---|---|
| Comparison | MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic Test |
Frequently Asked Questions
What is MT-TR gene encephalomyopathy?
How is MT-TR gene encephalomyopathy inherited?
What are the common symptoms of MT-TR-related encephalomyopathy?
What is the NGS genetic test for MT-TR gene encephalomyopathy?
What sample is required for this genetic test?
Is fasting required before the test?
How long will it take to get the test reports?
What is the cost of the test in India?
Does insurance cover this genetic test?
Why is genetic counselling recommended before testing?
Will I receive raw data files (FASTQ, VCF) with my test report?
Can this test detect other mitochondrial disorders besides MT-TR?
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