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DNA Labs India

Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test

DNA Labs India | ISO 9001:2015 Certified

Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test

Short Name: LS & ME Gene Panel

Also known as: Mitochondrial Encephalopathy Gene Panel, Leigh Syndrome Genetic Test, Mitochondrial DNA Panel

Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel Test test available at DNA Labs India for ₹36,000. Uses Next Generation Sequencing (NGS) on Amniotic fluid/ Chorionic villi/ Peripheral blood samples. Results in 4-6 weeks. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify genetic mutations responsible for Leigh Syndrome and Mitochondrial Encephalopathy, enabling precise diagnosis, guiding treatment strategies, and facilitating family planning and genetic counseling.

Test Code
3075
Price
₹36,000
Sample Type
Amniotic fluid/ Chorionic villi/ Peripheral blood
Result Time
4-6 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A doctor's prescription is required, except for surgery, pregnancy, or travel abroad cases. Ensure proper sample labeling and documentation.

Method: Venipuncture for blood, amniocentesis for amniotic fluid, chorionic villus sampling (CVS) for chorionic villi

Step 2

Laboratory Analysis

Sample collection is performed by a trained phlebotomist or medical professional using sterile techniques. For blood, venipuncture is done; for amniotic fluid or CVS, specialized procedures are followed.

Step 3

Report Delivery

The sample is securely packaged and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 4-6 weeks

Patient Instructions

1
Before the Test:Obtain a doctor's prescription. Inform the lab about any medications or recent procedures. No fasting is required.
2
During the Test:The test involves DNA extraction from the sample followed by Next Generation Sequencing (NGS) to analyze the mitochondrial genome and nuclear genes.
3
After the Test:Results are reviewed by a geneticist and a detailed report is generated. Genetic counseling may be offered based on findings.

About This Test

Who Should Get This Test

The purpose of this test is to identify genetic mutations responsible for Leigh Syndrome and Mitochondrial Encephalopathy, enabling precise diagnosis, guiding treatment strategies, and facilitating family planning and genetic counseling.

How to Prepare

  • For peripheral blood: Collect in EDTA vacutainer (3 ml)
  • For amniotic fluid: Use a sterile container
  • For chorionic villi: Place in sterile normal saline container
  • Maintain cool pack during transport

Doctor's Notes

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

"This gene panel is crucial for early diagnosis of mitochondrial disorders, enabling timely management and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid/ Chorionic villi/ Peripheral blood
Sample Volume3 ml for blood; varies for other samples
ContainerSterile container/ Sterile Normal Saline Container/EDTA Vacutainer (3 ml)
Collection MethodVenipuncture for blood, amniocentesis for amniotic fluid, chorionic villus sampling (CVS) for chorionic villi

Sample Stability

Blood: Stable for 24-48 hours at room temperature
Amniotic fluid/Chorionic villi: Process immediately or store at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Unlabeled or mislabeled sample
  • Contaminated container

Understanding Your Results

Results are interpreted by analyzing the presence of genetic variants in the targeted genes. A positive result indicates a pathogenic mutation associated with the disorder, while a negative result suggests no detectable mutations in the analyzed genes.
📊

Positive

Pathogenic variant detected, confirming diagnosis of Leigh Syndrome or Mitochondrial Encephalopathy

📊

Negative

No pathogenic variants detected in the analyzed genes; clinical correlation recommended

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but clinical significance is unknown; further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist, worsen, or if there is a family history of mitochondrial disorders. Genetic counseling is recommended for positive results.

Limitations

  • May not detect all possible mutations
  • Variants of uncertain significance (VUS) may be identified
  • Does not rule out other genetic or non-genetic causes

Risks & Considerations

  • Minimal risk for blood draw: bruising, infection
  • For amniocentesis/CVS: risk of miscarriage, infection, or injury to fetus

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is the Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel?
It is a genetic test that analyzes mitochondrial and nuclear DNA to diagnose Leigh Syndrome and Mitochondrial Encephalopathy using NGS technology.
What is the cost of this test?
The test costs INR 36000 at DNA Labs India, with free home sample collection available.
What samples are required for the test?
Samples can be amniotic fluid, chorionic villi, or peripheral blood collected in appropriate containers.
Is fasting required before the test?
No, fasting is not required for this test.
How long does it take to get results?
Results are typically available in 4-6 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What does a positive result mean?
A positive result indicates a pathogenic genetic mutation associated with Leigh Syndrome or Mitochondrial Encephalopathy.
Can this test detect all mutations?
While comprehensive, it may not detect all possible mutations, and variants of uncertain significance may be identified.
Do I need a doctor's prescription for this test?
Yes, a doctor's prescription is required, except for surgery, pregnancy, or travel abroad cases.
What are the risks of the test?
Risks are minimal for blood draw; for amniocentesis or CVS, there is a small risk of miscarriage or infection.
Is the test covered by insurance?
Coverage depends on your insurance policy; it is not typically covered under government schemes like PMJAY.
How should I prepare for sample collection?
Follow collection instructions, ensure proper labeling, and maintain sample stability with a cool pack if needed.
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 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.

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