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MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test

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MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test

Short Name: MT-TL2 Gene NGS Test

Also known as: MT-TL2 Encephalomyopathy NGS Test, Mitochondrial DNA MT-TL2 Mutation Analysis

MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Full Mitochondrial Genome Sequencing on Blood, Extracted DNA, or FTA Card Blood Spot 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the MT-TL2 gene using NGS technology, aiding in the diagnosis of mitochondrial encephalomyopathy.

Test Code
4049
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card Blood Spot
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Full Mitochondrial Genome Sequencing
Step 1

Sample Collection

No fasting required. Maintain hydration. Inform the lab about current medications and family history.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A simple blood draw or spot on FTA card.

Step 3

Report Delivery

No specific precautions. You may resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is required. A valid referral or clinical indication is needed. Pre-test genetic counseling is recommended.
2
During the Test:Sample collection takes less than 5 minutes. The NGS analysis is performed on a blood or DNA sample.
3
After the Test:Your report will be available in 3-4 weeks. You will be notified by email/WhatsApp when your report is ready.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the MT-TL2 gene using NGS technology, aiding in the diagnosis of mitochondrial encephalomyopathy.

How to Prepare

  • No fasting is required.
  • Carry a government ID for sample collection.
  • Carry a copy of the clinical history and prior reports to the collection center.

Doctor's Notes

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

"Genetic testing for mitochondrial disorders should be combined with family history assessment and genetic counseling to guide reproductive decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card Blood Spot
Sample VolumeAs per lab requirement
ContainerEDTA tube or FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Blood in EDTA tube: 24-48 hours at 2-8°C
DNA: long-term at -20°C
FTA card: stable at room temperature for months
Sample Rejection Criteria:
  • Haemolysed or clotted blood samples
  • Incorrectly labelled samples
  • Samples without proper cold chain for EDTA blood

Understanding Your Results

The MT-TL2 NGS genetic test analyzes the MT-TL2 gene in mitochondrial DNA. Results are interpreted using established nomenclature and ACMG guidelines.
Positive/Pathogenic variant: Indicates the presence of a MT-TL2 mutation associated with mitochondrial encephalomyopathy.
Negative/No variant: No detectable pathogenic variant in the MT-TL2 gene; however, a pathogenic variant in another mitochondrial gene or nuclear gene cannot be excluded.
Variant of Uncertain Significance (VUS): A change in the MT-TL2 gene with unclear clinical significance. Additional studies and family testing may be required.
⚠️ When to Consult a Doctor:

If you experience unexplained muscle weakness, seizures, visual/hearing loss, or have a family member diagnosed with mitochondrial encephalomyopathy, please consult a neurologist or clinical geneticist.

Limitations

  • ⚠Detects variants in the targeted mitochondrial genome; may not detect nuclear-mitochondrial interaction disorders
  • ⚠Heteroplasmy levels below detection threshold may be missed
  • ⚠Test does not assess functional impact of variations

Risks & Considerations

  • ●Minimal: possible bruising at the blood draw site, dizziness, or infection (rare).

Interfering Factors

  • ●Sample contamination with DNA from another species
  • ●Maternal age-related heteroplasmy
  • ●Low-quality or degraded DNA

Compare With Similar Tests

TestMT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic TestMELAS DNA TestMitochondrial Genome Full SequencingNuclear Mitochondrial Gene Panel
ComparisonMT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test

Frequently Asked Questions

What is the MT-TL2 gene encephalomyopathy?
It is a mitochondrial encephalomyopathy caused by mutations in the MT-TL2 gene, leading to brain and muscle dysfunction.
What is the cost of the MT-TL2 NGS Genetic Test at DNA Labs India?
The test costs Rs 20000, which includes free home sample collection.
What is NGS technology?
NGS (next-generation sequencing) is a modern DNA sequencing method that rapidly sequences mitochondrial DNA to detect variations in the MT-TL2 gene.
What sample type is required?
Blood or extracted DNA or a spot of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long will it take to get the report?
Reports are available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the MT-TL2 gene, confirming the diagnosis.
What does a negative result mean?
It means no pathogenic variant was found in the MT-TL2 gene, but other gene mutations are not excluded.
Does DNA Labs India provide raw data with the report?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical report.
Who should undergo this test?
Individuals with symptoms of mitochondrial encephalomyopathy or a family history of MT-TL2-related disorders.
Is home sample collection available?
Yes, free home sample collection is offered across many cities in India.
Can this test help with family planning?
Yes, genetic testing is important for identifying carriers and making informed reproductive choices.
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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