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MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test

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MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test

Short Name: MT-TK MERRF NGS Test

Also known as: Myoclonic Epilepsy with Ragged Red Fibers, MT-TK Gene Test

MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the MT-TK Gene MERRF Syndrome NGS Genetic Test is to identify pathogenic mutations in the MT-TK gene that cause MERRF syndrome. This aids in confirming diagnosis, assessing disease risk, and informing treatment and management strategies for patients and their families.

Test Code
2444
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session to draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Sample sent to lab for NGS analysis. Reports delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the MT-TK Gene MERRF Syndrome NGS Genetic Test is to identify pathogenic mutations in the MT-TK gene that cause MERRF syndrome. This aids in confirming diagnosis, assessing disease risk, and informing treatment and management strategies for patients and their families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples accurately

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is essential for diagnosing MERRF syndrome, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Room Temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the MT-TK gene. Consult a genetic counselor for detailed interpretation.
📊

Positive for pathogenic mutation

Confirms diagnosis of MERRF syndrome. Genetic counseling recommended.

📊

Negative for pathogenic mutation

No mutation detected. Clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of MERRF syndrome are present, such as myoclonus, seizures, or muscle weakness, or if there is a family history of mitochondrial disorders.

Limitations

  • ⚠May not detect all rare variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage

Frequently Asked Questions

What is MERRF syndrome?
MERRF syndrome is a rare mitochondrial disorder caused by mutations in the MT-TK gene, characterized by myoclonus, seizures, and muscle weakness.
What causes MERRF syndrome?
MERRF syndrome is caused by mutations in the MT-TK gene, which encodes a mitochondrial tRNA lysine, disrupting energy production.
What are the symptoms of MERRF syndrome?
Common symptoms include myoclonus, seizures, muscle weakness, hearing loss, ataxia, dementia, and optic atrophy.
How is MERRF syndrome diagnosed?
Diagnosis involves clinical evaluation, genetic testing for MT-TK mutations, and muscle biopsy to detect ragged red fibers.
What is the MT-TK gene?
The MT-TK gene is a mitochondrial gene that encodes tRNA lysine, essential for mitochondrial protein synthesis and energy production.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a high-throughput technology that sequences DNA to detect genetic mutations accurately.
What is the cost of the MT-TK Gene MERRF Syndrome NGS Genetic Test in India?
The test costs INR 20,000 in India, with home collection available at no extra charge.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider this test?
Individuals with symptoms of MERRF syndrome or a family history of mitochondrial disorders should consider this test.
Is the test covered by insurance?
Coverage varies by insurance plan. Check with your provider for details on genetic testing coverage.
What should I do if I test positive for a mutation?
Consult a genetic counselor or neurologist for further evaluation, management options, and family planning advice.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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