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MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test

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MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test

Short Name: MT-TS2 Gene MERRF/MELAS Test

Also known as: MERRF/MELAS Overlap Syndrome Test, MT-TS2 Genetic Test, Mitochondrial tRNA-Ser2 Gene Test

MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 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.

Cardiologist🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

To diagnose MERRF/MELAS overlap syndrome by detecting mutations in the MT-TS2 gene using advanced NGS technology, aiding in clinical management and family planning.

Test Code
5270
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 specific preparation required. Provide clinical history and undergo genetic counseling if recommended.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture or a drop of blood collected on an FTA card by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as instructed before shipping.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:The test involves DNA extraction and NGS analysis; no patient involvement beyond sample collection.
3
After the Test:Results are delivered in 3-4 weeks. Follow up with a geneticist or specialist for interpretation.

About This Test

Who Should Get This Test

To diagnose MERRF/MELAS overlap syndrome by detecting mutations in the MT-TS2 gene using advanced NGS technology, aiding in clinical management and family planning.

How to Prepare

  • Use sterile collection tubes
  • Label samples correctly
  • Ship at room temperature within 48 hours

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for diagnosing mitochondrial disorders like MERRF/MELAS overlap syndrome, guiding treatment and genetic counseling for affected families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MT-TS2 gene. Positive findings confirm MERRF/MELAS overlap syndrome, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of MERRF/MELAS overlap syndrome. Genetic counseling recommended.

📊

No pathogenic variant detected

Unlikely to have MT-TS2-related syndrome. Consider other genetic or clinical evaluations.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms like seizures, muscle weakness, or developmental delays, or if there is a family history of mitochondrial disorders.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Minimal risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Degraded DNA sample
  • ●Contamination during collection
  • ●Insufficient sample volume

Frequently Asked Questions

What is MERRF/MELAS overlap syndrome?
It is a rare mitochondrial disorder caused by MT-TS2 gene mutations, affecting the nervous system and muscles with symptoms like seizures and muscle weakness.
What does the MT-TS2 gene test involve?
The test uses next-generation sequencing (NGS) to analyze DNA from blood samples for mutations in the MT-TS2 gene.
How much does the test cost at DNA Labs India?
The test costs INR 20,000, which includes sample collection, shipping, and analysis.
Is home sample collection available?
Yes, free home collection is offered in many cities across India for online bookings.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample receipt.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Are there any fasting requirements?
No, fasting is not required for this genetic test.
How is the test different from other genetic tests?
This test specifically targets the MT-TS2 gene using NGS technology for high accuracy in detecting mitochondrial mutations.
What should I do if the test is positive?
Consult a geneticist or specialist for confirmation, treatment options, and genetic counseling.
Can the test detect all mutations?
While highly accurate, it may not detect all rare variants; clinical correlation is recommended.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
How do I prepare for the test?
No special preparation is needed, but provide clinical history and consider genetic counseling beforehand.
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

Your Data Privacy

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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