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MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test

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MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test

MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 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.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose MT-TS1 gene mutations causing MERRF/MELAS overlap syndrome, confirm clinical suspicion, identify carriers, and guide management and genetic counseling.

Test Code
2539
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)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample transported to laboratory for NGS analysis; report generated in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report delivery and follow-up counseling to discuss results and next steps.

About This Test

Who Should Get This Test

To diagnose MT-TS1 gene mutations causing MERRF/MELAS overlap syndrome, confirm clinical suspicion, identify carriers, and guide management and genetic counseling.

How to Prepare

  • Avoid hemolysis during blood draw
  • Properly label sample with patient details
  • Use sterile collection tubes

Doctor's Notes

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

"This test is essential for diagnosing mitochondrial disorders, guiding treatment, and informing family planning through genetic counseling."

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

Blood: 24 hours at room temperature
Extracted DNA: stable for several days if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or degraded sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MT-TS1 gene, helping diagnose MERRF/MELAS overlap syndrome.
Positive result: Pathogenic variant detected, confirming diagnosis and guiding treatment.
Negative result: No variant detected; consider other genetic or clinical tests if symptoms persist.
Variant of uncertain significance: Requires further evaluation and genetic counseling.
⚠️ When to Consult a Doctor:

If symptoms such as seizures, muscle weakness, or stroke-like episodes occur, or if genetic test results are positive, consult a neurologist or geneticist for management.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results may not predict disease severity

Risks & Considerations

  • Minimal risk from blood draw (bruising, infection)
  • Potential psychological impact of genetic results
  • Risk of genetic discrimination

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is MT-TS1 Gene MERRF/MELAS Overlap Syndrome?
It is a mitochondrial disorder caused by mutations in the MT-TS1 gene, presenting with symptoms from both MERRF and MELAS syndromes, such as seizures, muscle weakness, and stroke-like episodes.
What are the common symptoms of this syndrome?
Symptoms include myoclonus, epileptic seizures, ataxia, muscle weakness, lactic acidosis, stroke-like episodes, migraine headaches, hearing loss, and cognitive impairment.
How is the MT-TS1 Gene NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the MT-TS1 gene from a blood or DNA sample, detecting pathogenic variants associated with the syndrome.
What is the cost of the test in India?
The test costs INR 20,000, which includes home sample collection across India and delivery of raw data files along with the clinical report.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the MT-TS1 gene, confirming the diagnosis of MERRF/MELAS overlap syndrome and guiding treatment.
Is genetic counseling necessary before and after the test?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and discuss family planning or management options.
Are there any risks associated with the genetic test?
Risks are minimal, primarily related to blood draw, but may include psychological impact from results or concerns about genetic privacy.
Can insurance cover the cost of this test?
Genetic testing may not be covered by insurance; it is advisable to check with your insurance provider and the testing facility for coverage details.
What other tests might be needed alongside this genetic test?
Additional tests such as lactic acid blood test, EEG, muscle biopsy, or other mitochondrial gene tests may be recommended based on symptoms.
How accurate is the NGS Genetic Test for MT-TS1 mutations?
NGS is highly accurate for detecting genetic variants, but accuracy depends on sample quality and the specific mutations analyzed; results should be interpreted by a geneticist.
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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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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