MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
Short Name: MT-TK MERRF NGS Test
Also known as: MERRF Syndrome Genetic Test, MT-TK Gene Mutation Analysis, Mitochondrial tRNA Lysine Gene Test, Myoclonic Epilepsy with Ragged Red Fibers NGS Panel
MT-TK Gene MERRF syndrome, MT-TK 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 normally issued in 3 to 4 weeks after sample receipt.. 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 detect pathogenic variants in the MT-TK gene using next-generation sequencing, aiding in the molecular confirmation of MERRF syndrome and related mitochondrial disorders.
- Test Code
- 4288
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are normally issued in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session to draw a pedigree chart of affected family members is recommended before testing. The patient's clinical history should be provided to the laboratory.
Method: Peripheral blood collection, FTA card spot, or extracted DNA submission
Laboratory Analysis
A peripheral blood sample is collected by a trained phlebotomist, or an FTA card spot is prepared as per laboratory instructions. If extracted DNA is being submitted, the DNA sample should be clearly labelled and accompanied by the requisition form.
Report Delivery
No special restrictions are needed after sample collection. The sample can be transported at ambient room temperature. Reports are generally issued within 3 to 4 weeks.
Timeline: Reports are normally issued in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the MT-TK gene using next-generation sequencing, aiding in the molecular confirmation of MERRF syndrome and related mitochondrial disorders.
How to Prepare
- Please carry a valid doctor's referral, if available.
- Complete the consent and requisition form clearly.
- Inform the laboratory about any previous genetic testing.
- Ensure the sample is labelled correctly with the patient's name and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MERRF syndrome follows maternal inheritance, so a detailed family history and genetic counselling are essential before and after testing. Obstetrics and gynaecology consultation may also be relevant for family planning in families with mitochondrial disease."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Improperly labelled or unlabelled sample
- Sample received outside the recommended stability window
- Incomplete clinical history or missing consent form
- Inadequately filled FTA card
Understanding Your Results
Positive / Pathogenic variant detected
A disease-causing variant in the MT-TK gene is present. This is consistent with a molecular diagnosis of MT-TK related MERRF syndrome and requires clinical correlation.
Negative / No pathogenic variant detected
No disease-causing variant was found in the MT-TK gene. Mitochondrial disease may still be possible due to other genetic or non-genetic causes.
Variant of Unknown Significance (VUS)
A variant was found, but its clinical significance is not yet established. Additional family segregation studies or functional analysis may be required.
If you have symptoms such as myoclonic epilepsy, muscle weakness, ataxia, hearing loss, or visual impairment, or a maternal family history of mitochondrial disease, consult a neurologist or a mitochondrial disorder specialist before and after testing.
Limitations
- ⚠NGS may not detect large deletions, deep intronic variants, or all mitochondrial genome rearrangements.
- ⚠A negative result does not exclude mitochondrial disease caused by other genes.
- ⚠Variants of uncertain significance may require further family testing and functional studies.
- ⚠Clinical correlation and biochemical testing are essential for final interpretation.
- ⚠This test is not a substitute for comprehensive mitochondrial genome sequencing.
Risks & Considerations
- ●No significant physical risks from blood sample collection
- ●Possible slight pain, bruising, or bleeding at the puncture site
- ●Psychological distress from unexpected genetic findings
Interfering Factors
- ●Low quality or quantity of extracted DNA
- ●NGS platform limitations for certain mitochondrial rearrangements
- ●Heteroplasmy levels below the test limit of detection
- ●Sample mix-up or labelling errors
Frequently Asked Questions
What is MERRF syndrome?
Which gene is associated with MERRF syndrome in this test?
What are the common symptoms of MT-TK related MERRF syndrome?
How is MERRF syndrome diagnosed?
What is the cost of the MT-TK NGS genetic test at DNA Labs India?
What type of sample is required?
How long does the MT-TK NGS test take?
Does DNA Labs India provide raw data files with the report?
Is home sample collection available?
Do I need genetic counselling before the test?
Will insurance cover this genetic test?
What does a negative result mean?
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