MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
Short Name: MT-TP MERRF NGS Test
Also known as: MT-TP Gene Mutation Analysis, MERRF Syndrome Genetic Test, Mitochondrial DNA MT-TP NGS Sequencing, Myoclonus Epilepsy Ragged-Red Fibers DNA Test
MT-TP Gene MERRF syndrome, MT-TP 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 available in 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant interpretation or repeat testing.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
To confirm or exclude MERRF syndrome by identifying pathogenic variants in the MT-TP gene using next-generation sequencing and to provide clinical information for management and genetic counselling.
- Test Code
- 4289
- ICD Code
- E88.42
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available in 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant interpretation or repeat testing.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required for this genetic test. A pre-test genetic counselling session may be scheduled to obtain a detailed family history and draw a pedigree chart. Bring relevant clinical records and past investigation reports if available.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample will be collected by venipuncture or one drop of blood will be placed on an FTA card. The procedure is quick and minimal discomfort is expected.
Report Delivery
You can resume normal activities immediately after sample collection. The sample will be transported to the laboratory and the report will be shared in 3 to 4 weeks.
Timeline: Reports are available in 3 to 4 weeks from the date of sample receipt. In some cases, additional time may be required for variant interpretation or repeat testing.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or exclude MERRF syndrome by identifying pathogenic variants in the MT-TP gene using next-generation sequencing and to provide clinical information for management and genetic counselling.
How to Prepare
- No fasting is required
- EDTA blood, extracted DNA, or one drop of blood on FTA card may be submitted
- Ensure the sample is labelled with the patient's name and unique identifier
- Maintain sample at ambient room temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for mitochondrial disorders should always be interpreted with clinical correlation and post-test genetic counselling to assess recurrence risks and reproductive options."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Insufficient sample quantity
- Mislabelled or unlabelled sample
- Degraded DNA sample
Understanding Your Results
Positive / Pathogenic variant
A pathogenic or likely pathogenic MT-TP variant was identified. In the appropriate clinical context, this supports a diagnosis of MT-TP-related MERRF syndrome.
Negative / No pathogenic variant
No pathogenic MT-TP variant was detected. This reduces the likelihood of MT-TP-related MERRF but does not exclude all mitochondrial diseases.
Variant of uncertain significance (VUS)
A genetic variant of uncertain clinical significance was identified. Further family studies and clinical correlation may be needed before a definitive diagnosis is made.
Consult a neurologist or clinical geneticist if you or a family member have unexplained myoclonus, seizures, ataxia, muscle weakness, hearing loss, dementia, or a known family history of MERRF syndrome. Genetic counselling is recommended before and after testing.
Limitations
- ⚠This test targets only the MT-TP gene and may not detect pathogenic variants in other mitochondrial or nuclear genes associated with mitochondrial diseases.
- ⚠Large mitochondrial DNA deletions or rearrangements may not be reliably detected by this targeted NGS assay.
- ⚠A negative result does not exclude all mitochondrial disorders.
- ⚠Variant interpretation may require additional family studies.
Risks & Considerations
- ●Minimal pain or discomfort at the venipuncture site
- ●Small risk of bruising or bleeding from the needle site
- ●Very small risk of infection at the puncture site
Interfering Factors
- ●Poor DNA quality or quantity
- ●Low-level heteroplasmy below the detection threshold of the assay
- ●Sample contamination during collection or processing
- ●Sample mislabelling or patient identification errors
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Frequently Asked Questions
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