Skip to main content
DNA Labs India

MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test

Short Name: MT-TV NGS

Also known as: MT-TV gene sequencing, Mitochondrial tRNA-Valine gene NGS, Leigh syndrome MT-TV inherited risk test

MT-TV Gene Neonatal death due Leigh syndrome, MT-TV 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 available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the MT-TV gene associated with Leigh syndrome and neonatal death risk, and to support clinical diagnosis, carrier identification, and reproductive genetic counseling.

Test Code
4397
ICD Code
G31.81
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Inform your referring doctor about current symptoms, medications, and family history. A genetic counseling session may be recommended before the test to draw a family pedigree.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample will be drawn by a trained phlebotomist. For FTA card, a single drop of blood is placed on the card and allowed to air dry.

Step 3

Report Delivery

You can resume normal activities immediately. No restrictions are needed after sample collection.

Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended before testing to draw a three-generation pedigree and discuss recurrence risk.
2
During the Test:You will provide a blood sample or FTA card specimen. No sedation is required.
3
After the Test:Await results for 3-4 weeks. A genetic counselor can help interpret the findings and plan next steps.

About This Test

Who Should Get This Test

To detect pathogenic variants in the MT-TV gene associated with Leigh syndrome and neonatal death risk, and to support clinical diagnosis, carrier identification, and reproductive genetic counseling.

How to Prepare

  • Blood can be collected in an EDTA vacutainer
  • FTA card should be air-dried before packing
  • Ensure the sample is labeled with patient name, date of birth, and collection time
  • Samples should be transported at ambient temperature

Doctor's Notes

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

"An NGS genetic test for MT-TV should be offered alongside formal genetic counseling, particularly when interpreting maternal inheritance and recurrence risk for family planning."

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 NGS; typically 2-5 ml whole blood or one blood spot on FTA card
ContainerEDTA tube / FTA card / extracted DNA vial
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood (EDTA): 24-48 hours at room temperature
Extracted DNA: 1 week at 2-8°C
FTA card: Stable for months at room temperature
Extracted DNA should be frozen at -20°C if storage is prolonged
Sample Rejection Criteria:
  • Improperly labeled sample
  • Insufficient sample quantity
  • Clotted or hemolyzed blood
  • Frozen whole blood sample
  • Heparinized blood sample

Understanding Your Results

The MT-TV NGS test report should be interpreted by a clinical geneticist. Variant classification follows ACMG/AMP guidelines. A positive result confirms the molecular diagnosis only in the appropriate clinical context.
📊

Pathogenic/likely pathogenic variant detected

Consistent with MT-TV related Leigh syndrome. Genetic counseling is strongly recommended.

📊

No pathogenic variant detected

MT-TV-related cause is not identified. Other nuclear or mitochondrial genetic causes should be considered.

📊

Variant of uncertain significance (VUS)

Further familial segregation studies and functional investigations may be required.

⚠️ When to Consult a Doctor:

If a child has neurodevelopmental regression, hypotonia, seizures, respiratory abnormalities, optic atrophy, or a sibling with Leigh syndrome, consult a pediatric neurologist, clinical geneticist, or maternal-fetal medicine specialist for timely evaluation.

Limitations

  • ⚠NGS may not detect large mitochondrial DNA rearrangements or deep intronic nuclear gene variants
  • ⚠Results should be interpreted in conjunction with clinical, biochemical, and imaging findings
  • ⚠Variants of uncertain significance may require additional family studies or functional testing
  • ⚠A negative MT-TV result does not exclude Leigh syndrome caused by other nuclear or mitochondrial genes

Risks & Considerations

  • ●Pain or bruising at the venipuncture site
  • ●Minimal risk of bleeding or infection
  • ●Psychological impact of receiving a positive genetic result

Interfering Factors

  • ●Recent blood transfusion may cause DNA contamination from donor cells
  • ●Prior allogeneic bone marrow transplantation may alter leukocyte-derived DNA results
  • ●Heteroplasmy levels below the assay detection threshold may be missed
  • ●Use of heparinized blood may inhibit PCR and NGS reactions

Compare With Similar Tests

TestMT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test
ComparisonMT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test

Frequently Asked Questions

What is the MT-TV gene and how is it related to Leigh syndrome?
The MT-TV gene encodes the mitochondrial transfer RNA for valine. Pathogenic variants in this gene impair mitochondrial protein synthesis and reduce ATP production, causing Leigh syndrome in infancy, leading to progressive neurological disease and sometimes neonatal death.
What is the cost of the MT-TV related NGS genetic test at DNA Labs India?
The test costs Rs 20000. This includes NGS-based analysis of the MT-TV gene and the clinical report. Online bookings also receive free home sample collection across India.
What sample is needed for the MT-TV NGS test?
Blood in an EDTA tube, extracted DNA, or one drop of blood collected on an FTA card can be used.
How long will it take to get reports?
The report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
Who should get this MT-TV gene test?
Individuals with clinical suspicion of Leigh syndrome, infants with unexplained developmental regression or seizures, people with a family history of mitochondrial disease, and couples planning pregnancy where a parent is at risk of carrying an MT-TV mutation.
Is fasting required before sample collection?
No, fasting is not required. The test can be performed at any time of the day.
Why does DNA Labs India provide raw data files with the report?
DNA Labs India believes in full transparency. We provide Raw Data, FASTQ, and VCF files along with the conclusive clinical report so you can seek independent interpretation if desired.
Can this test identify carriers of the MT-TV mutation?
Yes, it can identify the presence of a pathogenic MT-TV variant in at-risk family members. Because MT-TV is mitochondrial DNA, maternal inheritance influences recurrence risk, so genetic counseling is recommended.
What could a positive result mean?
A pathogenic or likely pathogenic variant in MT-TV confirms the molecular diagnosis of MT-TV related Leigh syndrome in a symptomatic individual. It also allows family risk assessment and reproductive planning.
What is the technology used for this test?
Next-Generation Sequencing (NGS) technology is used to analyze the MT-TV gene for mutations, providing high-resolution sequence coverage.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and over 200 other locations across India.
Should I follow any pre-test instructions?
Your referring doctor may ask for a genetic counseling session to draw a pedigree chart. Inform the laboratory about any known family members with Leigh syndrome or related mitochondrial disorders.
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.