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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

Short Name: MT-TS1 NGS Genetic Test

Also known as: MT-TS1 Gene Sequencing, MERRF/MELAS Overlap NGS Panel, MT-TS1 Mitochondrial DNA NGS 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 Reports are delivered within 3 to 4 weeks after sample submission.. 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 3, 2026

Overview

The purpose of this NGS genetic test is to detect pathogenic variants in the MT-TS1 gene in patients with suspected MERRF/MELAS overlap syndrome, mitochondrial encephalomyopathy, or related neurological presentations. It supports clinical diagnosis and helps medical professionals guide management and family counselling.

Test Code
4292
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample submission.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session may be arranged to draw a pedigree chart of family members affected with MT-TS1 Gene MERRF/MELAS overlap syndrome before the test.

Method: Venipuncture / DNA extraction / FTA card blood spot

Step 2

Laboratory Analysis

The sample is collected as venous blood in an appropriate tube, extracted DNA, or a single drop of blood on an FTA card, depending on the chosen method.

Step 3

Report Delivery

No special aftercare is required. The facility will provide instructions for sample transport and report delivery.

Timeline: Reports are delivered within 3 to 4 weeks after sample submission.

Patient Instructions

1
Before the Test:No special preparation is needed. The ordering physician or genetic counsellor will review the clinical history.
2
During the Test:The sample collection takes a few minutes. It is performed using a standard blood draw or an FTA card blood spot.
3
After the Test:The sample is sent to the laboratory for NGS analysis. Reports are delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the MT-TS1 gene in patients with suspected MERRF/MELAS overlap syndrome, mitochondrial encephalomyopathy, or related neurological presentations. It supports clinical diagnosis and helps medical professionals guide management and family counselling.

How to Prepare

  • Ensure the sample is labeled with patient details.
  • If using an FTA card, apply one drop of blood to the designated area and allow it to dry.
  • Transport the sample according to the instructions provided by DNA Labs India.

Doctor's Notes

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

"In suspected mitochondrial disorders, confirming a genetic diagnosis can help identify maternal inheritance patterns and guide reproductive counselling for the affected family."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture / DNA extraction / FTA card blood spot

Sample Stability

Refer to the sample collection kit instructions for precise stability conditions.
Blood and FTA card samples should be transported as per laboratory guidance.
Sample Rejection Criteria:
  • Sample not labeled properly
  • Sample container broken or leaked
  • Inadequate volume for DNA extraction
  • Contaminated sample
  • Sample received in unsuitable transport medium

Understanding Your Results

The result of the MT-TS1 NGS genetic test should be interpreted by a clinical geneticist in the context of clinical symptoms, family history, and additional test results.
📊

Pathogenic variant detected

Indicates a molecular diagnosis of MT-TS1-related mitochondrial disease. Clinical correlation is required.

📊

Likely pathogenic variant detected

Variant likely contributes to disease; further evidence or family studies may strengthen classification.

📊

Variant of Uncertain Significance detected

The variant cannot yet be classified as pathogenic or benign. Further testing of family members may be recommended.

📊

No pathogenic variant detected

No clinically significant MT-TS1 variant was found. This does not rule out mitochondrial disease due to other genes or non-genetic causes.

⚠️ When to Consult a Doctor:

If you or a family member have seizures, muscle weakness, speech problems, vision loss, headaches, memory loss, developmental delays, or a family history of MERRF/MELAS overlap syndrome, consult a neurologist or clinical geneticist about genetic testing.

Limitations

  • ⚠This test is specifically for MT-TS1 gene-related mitochondrial disease; mutations in other genes are not detected.
  • ⚠NGS may not reliably detect large deletions, rearrangements, deep intronic variants, or very low-level heteroplasmy.
  • ⚠Results should be interpreted by a qualified clinical geneticist in the context of clinical findings and family history.

Risks & Considerations

  • ●No significant risks are associated with this test.
  • ●Mild pain, bruising, or redness may occur at the blood collection site.

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Contamination during sample collection or processing
  • ●Low-level heteroplasmy below assay sensitivity
  • ●Regions of the MT-TS1 gene not adequately covered by the NGS assay

Frequently Asked Questions

What is the cost of the MT-TS1 Gene MERRF/MELAS overlap syndrome NGS genetic test?
The test costs INR 20,000 at DNA Labs India. This includes NGS-based MT-TS1 gene analysis and the clinical report.
What sample is needed for this test?
Blood, extracted DNA, or one drop of blood on FTA card can be used.
How long does it take to get the report?
The report is delivered within 3 to 4 weeks.
Do I need to fast before this test?
No, fasting is not required.
What is MERRF/MELAS overlap syndrome?
It is the combination of features of both MERRF and MELAS syndromes in the same individual, caused by mutations such as those in the MT-TS1 gene.
What symptoms may prompt this test?
Common symptoms include seizures, muscle weakness, speech problems, vision loss, headaches, memory loss, and developmental delays.
Why is NGS used for this test?
NGS is a high-throughput DNA sequencing method that can accurately detect mutations in the MT-TS1 gene even when other tests have not provided a diagnosis.
Can this test detect all mitochondrial disorders?
No, this test is specific to MT-TS1 gene-related MERRF/MELAS overlap syndrome. Other gene panels may be needed for broader mitochondrial disorders.
Will I receive raw data with the report?
DNA Labs India shares raw data files (FASTQ and VCF) along with the conclusive clinical report, so you can request independent analysis if needed.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in multiple cities across India.
Who should order this test?
A neurologist, clinical geneticist, or physician managing symptoms suggestive of mitochondrial disease may recommend this test.
What does a negative result mean?
A negative result means no clinically significant pathogenic variant in the MT-TS1 gene was detected. It does not exclude the possibility of mitochondrial disease caused by other genes.
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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