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MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test

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MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test

Short Name: MT-TL1 Gene Test

Also known as: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes

MT-TL1 Gene MELAS syndrome, MT-TL1 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)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose MELAS syndrome by detecting mutations in the MT-TL1 gene using Next-Generation Sequencing.

Test Code
2535
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Standard blood draw procedure or collection of extracted DNA/FTA card sample.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or DNA extraction.
3
After the Test:Wait for report delivery in 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose MELAS syndrome by detecting mutations in the MT-TL1 gene using Next-Generation Sequencing.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for MT-TL1 mutations is essential for accurate diagnosis of MELAS syndrome, enabling targeted management 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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MT-TL1 gene.
📊

No pathogenic variants detected

Negative for MT-TL1 gene mutations; MELAS syndrome unlikely based on genetic testing.

📊

Pathogenic variant detected

Positive for MT-TL1 gene mutation; consistent with MELAS syndrome diagnosis, requiring clinical correlation.

⚠️ When to Consult a Doctor:

If symptoms of MELAS syndrome are present, such as stroke-like episodes, seizures, or muscle weakness, or if there is a family history of mitochondrial disorders.

Frequently Asked Questions

What is MELAS syndrome?
MELAS syndrome is a rare mitochondrial disorder caused by mutations in the MT-TL1 gene, leading to encephalomyopathy, lactic acidosis, and stroke-like episodes.
What causes MELAS syndrome?
MELAS syndrome is primarily caused by mutations in the MT-TL1 gene, which disrupts mitochondrial energy production.
What are the common symptoms of MELAS syndrome?
Symptoms include stroke-like episodes, seizures, muscle weakness, visual and hearing problems, difficulty swallowing, and heart abnormalities.
How is MELAS syndrome diagnosed?
Diagnosis involves genetic testing for MT-TL1 mutations, blood and urine tests for lactic acidosis, and brain imaging like MRI.
What is the MT-TL1 related NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the MT-TL1 gene to detect mutations associated with MELAS syndrome.
How is the test performed?
The test requires a blood sample, extracted DNA, or a blood drop on an FTA card, analyzed using NGS technology.
What is the cost of the MT-TL1 gene test in India?
The cost is approximately INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the MT-TL1 gene, aiding in MELAS syndrome diagnosis.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
Can MELAS syndrome be treated?
There is no cure, but management focuses on symptom relief, supportive care, and genetic counseling for families.
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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