Skip to main content
DNA Labs India

MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test

Short Name: MT-TQ Gene Myopathy NGS Test

Also known as: MT-TQ Related NGS Genetic Test, Mitochondrial Myopathy NGS Panel, MT-TQ Gene Sequencing Test

MT-TQ Gene Myopathy, MT-TQ 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 in 3 to 4 weeks from the date of sample receipt.. 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

The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TQ gene to confirm or exclude a diagnosis of MT-TQ-related mitochondrial myopathy. It is also intended to guide recurrence-risk counselling for families and to support clinical management.

Test Code
4382
ICD Code
G71.3
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. However, patients should carry any previous neurological, metabolic, or muscle biopsy reports and provide family history during genetic counselling.

Method: Peripheral blood draw, extracted DNA sample, or one drop of blood on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample, or a few drops of blood will be spotted on an FTA card. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

No restrictions. You may resume normal activities. The sample will be sent to the laboratory for DNA extraction and NGS analysis.

Timeline: Reports are delivered in 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before the test to draw a pedigree chart and discuss the family history of MT-TQ gene myopathy or related neurological disorders.
2
During the Test:No special preparation is needed. A blood sample is collected, or the patient may provide an extracted DNA sample or FTA card blood spot.
3
After the Test:After sample collection, the patient can resume regular activities. The sample will be processed in the genetics laboratory, and results will be shared after 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TQ gene to confirm or exclude a diagnosis of MT-TQ-related mitochondrial myopathy. It is also intended to guide recurrence-risk counselling for families and to support clinical management.

How to Prepare

  • Blood should be collected in an appropriate EDTA tube if required.
  • If using FTA card, allow the blood spot to air dry before packing.
  • Ensure the sample is labelled with the patient's name and unique ID.
  • Home collection may be arranged at a convenient time by booking online.

Doctor's Notes

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

"In suspected mitochondrial myopathies, the decision to test should be made jointly by the neurologist, clinical geneticist, and the patient's family. Pre-test genetic counselling can clarify the diagnostic yield and recurrence risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA tube / FTA card
Collection MethodPeripheral blood draw, extracted DNA sample, or one drop of blood on FTA card

Sample Stability

Whole blood in EDTATransport at room temperature and process according to laboratory protocol
FTA card blood spotStable at room temperature for extended storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample quantity
  • Mislabelled or unlabelled samples
  • Samples leaking during transport
  • Inappropriate or damaged sample container

Understanding Your Results

The clinical report is prepared by qualified genetic professionals and must be interpreted in the context of the patient's symptoms, family history, and neurological findings.
Pathogenic variant detected: indicates a probable diagnosis of MT-TQ-related mitochondrial myopathy; genetic counselling is recommended.
Likely pathogenic variant detected: highly suggestive of disease, but additional family or functional studies may be helpful.
Variant of uncertain significance (VUS): cannot be classified as pathogenic or benign; further evaluation may be needed.
No pathogenic variant detected: negative result does not rule out mitochondrial myopathy; other genetic and biochemical causes should be considered.
⚠️ When to Consult a Doctor:

If you or your child experience unexplained muscle weakness, fatigue that worsens with activity, vision or hearing loss, or have a family history of mitochondrial disease, consult a neurologist or clinical geneticist. Genetic testing should not replace a full clinical and metabolic work-up.

Limitations

  • ⚠A negative result does not exclude mitochondrial disease caused by variants in other mitochondrial genes or nuclear-encoded mitochondrial genes.
  • ⚠The test may not detect very low-level heteroplasmy below the analytical sensitivity of the NGS platform.
  • ⚠A variant of uncertain significance may be reported; additional testing may be required.
  • ⚠The targeted MT-TQ test is not a whole mitochondrial genome analysis unless explicitly requested.

Risks & Considerations

  • ●No significant physical risks beyond minor bruising at the blood collection site
  • ●Possible emotional stress from an uncertain or positive genetic result
  • ●A genetic result may have implications for other family members

Interfering Factors

  • ●Very low level mitochondrial heteroplasmy may not be reliably detected by NGS
  • ●Sample contamination or DNA degradation
  • ●Insufficient quantity of extracted DNA
  • ●Variant of uncertain significance requiring additional functional or family studies

Compare With Similar Tests

TestMT-TQ Gene Myopathy, MT-TQ related NGS Genetic TestMT-TQ Gene Myopathy NGS Genetic TestMitochondrial Genome NGS Genetic Test
ComparisonMT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test

Frequently Asked Questions

What is MT-TQ gene myopathy?
MT-TQ gene myopathy is a rare mitochondrial disorder caused by changes in the MT-TQ gene, which provides instructions for the mitochondrial tRNA for glutamine. It leads to impaired energy production, causing muscle weakness, fatigue, vision and hearing problems, and other neurological symptoms.
What are the symptoms of MT-TQ related myopathy?
Common symptoms include muscle weakness, fatigue, myalgia, cramps, difficulty walking, vision or hearing loss, balance and coordination issues, speech or swallowing difficulties, and respiratory problems. Onset and severity vary widely.
How is MT-TQ gene myopathy diagnosed?
Diagnosis is based on clinical findings, neurological examination, family history, blood tests, EMG, muscle biopsy, and genetic confirmation. NGS-based testing of the MT-TQ gene helps detect causative variants.
What does the MT-TQ related NGS genetic test detect?
This test uses next-generation sequencing to detect mutations, including point variants and small insertions/deletions, in the MT-TQ gene. The test report includes clinical interpretation and raw data files.
How much does the MT-TQ gene myopathy NGS test cost in India?
DNA Labs India offers this test at Rs 20,000, which includes free home sample collection in many cities. Please confirm the exact price and any additional charges at the time of booking.
What sample is needed for the test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card. The sample is used for DNA extraction and NGS analysis.
Is fasting required for this genetic test?
No, fasting is not required for the MT-TQ gene NGS genetic test. However, please follow any instructions given by the referring physician.
How long will it take to get the reports?
The reports are usually available in 3 to 4 weeks. They will be sent online and may also be shared by email or WhatsApp as per the laboratory's process.
Will I receive raw data with the clinical report?
Yes. DNA Labs India shares raw data files, including FASTQ and VCF, along with the conclusive clinical report for transparency and independent verification if needed.
Who should consider this test?
Individuals with unexplained muscle weakness, fatigue, exercise intolerance, vision or hearing loss, balance problems, or a family history of mitochondrial myopathy should discuss this test with a neurologist or clinical geneticist.
Why is genetic counselling recommended before this test?
Genetic counselling helps review family history, draw a pedigree chart, explain the inheritance pattern, and ensure the test is appropriate. It also helps patients understand possible results and their impact.
Does DNA Labs India provide home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings of this test in major cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and others.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.