MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
Short Name: MT-TL1 NGS Genetic Test
Also known as: MELAS genetic test, MT-TL1 gene mutation analysis, Mitochondrial tRNA Leu(UUR) gene test
MT-TL1 Gene MELAS syndrome, MT-TL1 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 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify pathogenic variants in the MT-TL1 gene in individuals with clinical features of MELAS syndrome or related mitochondrial diseases. It supports clinical diagnosis, helps confirm a suspected mitochondrial disorder, guides surveillance and enables family member testing.
- Test Code
- 4216
- 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
- Next Generation Sequencing (NGS)
Sample Collection
Pre-test genetic counselling is required to draw a pedigree chart of family members affected with MT-TL1-related disease. Please share the patient's clinical history and any previous investigation reports.
Method: Blood draw or FTA card
Laboratory Analysis
A blood sample will be collected by venous draw, or a blood spot will be placed on the FTA card. The procedure is quick and the sample is labelled with a unique identifier.
Report Delivery
The sample is transported to the DNA Labs India genetics laboratory for NGS analysis. Reports will be shared in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the MT-TL1 gene in individuals with clinical features of MELAS syndrome or related mitochondrial diseases. It supports clinical diagnosis, helps confirm a suspected mitochondrial disorder, guides surveillance and enables family member testing.
How to Prepare
- No fasting is required.
- Ensure the sample tube or FTA card is clearly labelled with the patient's name and ID.
- Inform the laboratory about any prior stem cell transplant or blood transfusion if known.
- Please carry the prescription and relevant clinical notes to the collection centre.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Patients with a confirmed MT-TL1 variant should receive coordinated care from a neurologist, metabolic specialist and clinical geneticist."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or severely haemolysed blood sample
- Incorrectly labelled sample
- Sample container broken in transit
- Inadequate sample volume or insufficient DNA
Understanding Your Results
Pathogenic variant identified
Molecular confirmation of an MT-TL1-related disorder; genetic counselling is strongly recommended.
Variant of uncertain significance (VUS)
Requires further familial segregation studies and clinical correlation.
No pathogenic variant detected
Does not exclude a mitochondrial disorder; consider broader mitochondrial genome analysis.
Consult a neurologist and clinical geneticist if you have stroke-like episodes, seizures, unexplained encephalopathy, or a family history of MELAS syndrome.
Limitations
- ⚠This assay specifically targets the MT-TL1 gene and does not analyse the full mitochondrial genome.
- ⚠Large mitochondrial deletions or rearrangements may not be detected by this targeted NGS approach.
- ⚠A variant of uncertain significance may require additional family studies and clinical correlation.
Risks & Considerations
- ●Minimal risk of bruising at the blood collection site
- ●Slight bleeding
- ●Rare infection at the puncture site
Interfering Factors
- ●DNA degradation
- ●Low-level heteroplasmy below assay detection limit
- ●Sample mix-up or maternal cell contamination
- ●Variants in genes not covered by this targeted test
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Frequently Asked Questions
What is the MT-TL1 gene MELAS syndrome NGS genetic test?
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What sample is required for this test?
Is fasting required before this test?
How long will the test report take?
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Are raw data files provided with the report?
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Who should take this test?
Do I need genetic counselling before or after the test?
Can this test detect heteroplasmy?
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