MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test
Short Name: MT-TS2 NGS Test
Also known as: MT-TS2 gene mutation test, MERRF/MELAS overlap syndrome NGS panel, Mitochondrial DNA MT-TS2 analysis
MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. The report will be accompanied by raw data files (FASTQ, VCF) for transparency and further analysis if needed.. 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 the MT-TS2 related NGS genetic test is to identify mutations in the MT-TS2 gene that are associated with MERRF/MELAS overlap syndrome. This test is intended for individuals presenting with clinical features suggestive of mitochondrial encephalomyopathy, unexplained seizures, stroke-like episodes, myopathy, ophthalmoplegia, hearing loss, or cognitive decline. It helps confirm the diagnosis, supports medical management, and enables genetic counselling for at-risk family members.
- Test Code
- 4287
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. The report will be accompanied by raw data files (FASTQ, VCF) for transparency and further analysis if needed.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Analysis
Sample Collection
No fasting required. A genetic counselling session is recommended before testing to discuss the purpose, limitations, and implications of the test. Please bring previous medical records and any family history information.
Method: Peripheral venipuncture / Finger-prick blood spot
Laboratory Analysis
For blood samples, a simple venipuncture is performed by a trained phlebotomist. FTA card blood spot collection involves a small finger-prick. The process takes only a few minutes.
Report Delivery
Resume normal activities immediately. There are no specific aftercare instructions. The sample will be sent to the laboratory for analysis. Results are typically available in 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. The report will be accompanied by raw data files (FASTQ, VCF) for transparency and further analysis if needed.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MT-TS2 related NGS genetic test is to identify mutations in the MT-TS2 gene that are associated with MERRF/MELAS overlap syndrome. This test is intended for individuals presenting with clinical features suggestive of mitochondrial encephalomyopathy, unexplained seizures, stroke-like episodes, myopathy, ophthalmoplegia, hearing loss, or cognitive decline. It helps confirm the diagnosis, supports medical management, and enables genetic counselling for at-risk family members.
How to Prepare
- No special diet or fasting is required.
- Inform the lab if you are taking any supplements or anticoagulant medications.
- For FTA card, allow the blood spot to air dry completely before sealing in the provided envelope.
- Ensure all patient identifiers are correctly written on the sample label and requisition form.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for confirming mitochondrial disorders such as MERRF/MELAS overlap syndrome because clinical presentation alone can be misleading. A definitive molecular diagnosis helps in informed family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Incorrectly labeled sample
- Clotted blood sample without anticoagulant
- Sample exposed to extreme temperatures
- Insufficient amount of sample
Understanding Your Results
Positive - Pathogenic variant detected
Confirms molecular diagnosis of MT-TS2-related MERRF/MELAS overlap syndrome. Recommends genetic counselling and family screening.
Positive - Likely pathogenic variant detected
Suggests a strong likelihood of the disorder; further clinical correlation is advised.
Negative - No pathogenic variant detected
Does not rule out MERRF/MELAS overlap syndrome; consider other mitochondrial or nuclear genes, or further testing such as mitochondrial genome sequencing.
Variant of Uncertain Significance (VUS)
A detected variant with unknown clinical significance; additional familial testing or functional studies may help clarify.
Consult your referring neurologist or geneticist if your result is positive or if you have persistent neurological symptoms despite a negative test. Seek urgent medical attention if you experience seizures, stroke-like episodes, or sudden visual loss.
Limitations
- ⚠This test only analyses the MT-TS2 gene and does not rule out other mitochondrial or nuclear genetic causes.
- ⚠Mutations in other mitochondrial tRNA genes or nuclear-encoded mitochondrial genes may not be detected.
- ⚠Low-level heteroplasmy (<5-10%) may not be reliably detected depending on sequencing depth.
- ⚠This test does not detect large deletions, duplications, or rearrangements in the mitochondrial genome.
- ⚠A negative result does not exclude the diagnosis of MERRF/MELAS overlap syndrome; clinical correlation and further testing may be required.
Risks & Considerations
- ●No significant physical risks are associated with the blood draw. Potential minor effects may include bruising or light-headedness.
- ●Psychological stress due to potential positive results for a genetic disorder.
- ●Risk of unsolicited information regarding family members.
- ●Low, but possible, chance of misinterpretation without proper genetic counselling.
Interfering Factors
- ●Sample contamination with maternal DNA
- ●Low DNA quality or quantity
- ●Incomplete coverage of MT-TS2 gene due to technical issues
- ●Mitochondrial DNA heteroplasmy with a low mutant load
Compare With Similar Tests
| Test | MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test | MT-TS2 NGS Genetic Test | Mitochondrial Genome NGS Test | Nuclear Mitochondrial Gene Panel |
|---|---|---|---|---|
| Comparison | MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test |
Frequently Asked Questions
What is the MT-TS2 gene test?
What is MERRF/MELAS overlap syndrome?
What are the common symptoms of MT-TS2 related MERRF/MELAS overlap syndrome?
Why should I consider this genetic test?
How is the test performed?
What type of sample is required?
Can this test detect all mitochondrial disorders?
What is the cost of the test?
Is home sample collection available?
How long will it take to get the results?
What does a positive result mean?
Does the test report include raw data?
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