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Leigh Syndrome Mitochondrial Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

Leigh Syndrome Mitochondrial Mutation Detection Test

Short Name: Leigh Syndrome Mutation Test

Also known as: Leigh's Disease Genetic Test, Mitochondrial DNA Mutation Test for Leigh Syndrome, Leigh Syndrome Genetic Analysis

Leigh Syndrome Mitochondrial Mutation Detection Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole blood samples. Results in Sample accepted by Monday 9 AM; reports available by Friday.. Free home collection in 300+ cities across India.

Genetic Mutation Detection🏠 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 test is to detect mutations in mitochondrial DNA that cause Leigh syndrome, aiding in accurate diagnosis, prognosis assessment, and guiding appropriate medical management and family planning decisions.

Test Code
1159
Price
₹7,500
Sample Type
Whole blood
Result Time
Sample accepted by Monday 9 AM; reports available by Friday.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and signed by a healthcare provider.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball to prevent bruising.

Timeline: Sample accepted by Monday 9 AM; reports available by Friday.

Patient Instructions

1
Before the Test:Complete the Genomics Clinical Information Requisition Form (Form 20) and discuss symptoms with your healthcare provider.
2
During the Test:A blood sample will be drawn from a vein in your arm.
3
After the Test:You may resume normal activities. Apply pressure to the puncture site if needed.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in mitochondrial DNA that cause Leigh syndrome, aiding in accurate diagnosis, prognosis assessment, and guiding appropriate medical management and family planning decisions.

How to Prepare

  • Collect 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube.
  • Ship sample refrigerated. DO NOT FREEZE.
  • Include the duly filled Genomics Clinical Information Requisition Form (Form 20).

Doctor's Notes

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

"Genetic testing for Leigh syndrome is essential for accurate diagnosis and personalized management. Early intervention can significantly improve outcomes for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL min.)
Container1 Lavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerator
Frozen
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improper container or labeling
  • Missing requisition form

Understanding Your Results

Results indicate the presence or absence of pathogenic mitochondrial DNA mutations associated with Leigh syndrome. Interpretation should be done in conjunction with clinical findings and family history.
📊

Negative

No pathogenic mutations detected. Clinical correlation is advised if symptoms persist.

📊

Positive

Pathogenic mutation(s) identified, confirming diagnosis of Leigh syndrome. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms suggestive of Leigh syndrome are present, or if test results are positive, for comprehensive management and family planning advice.

Limitations

  • ⚠Only detects known mitochondrial mutations associated with Leigh syndrome
  • ⚠Cannot rule out other genetic or metabolic disorders
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection at puncture site, slight pain.

Interfering Factors

  • ●Sample hemolysis
  • ●Improper sample storage
  • ●Contamination
  • ●Incorrect sample container

Compare With Similar Tests

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ComparisonLeigh Syndrome Mitochondrial Mutation Detection Test

Frequently Asked Questions

What is Leigh Syndrome?
Leigh syndrome is a rare genetic disorder affecting the central nervous system, caused by mitochondrial DNA mutations leading to progressive neurological deterioration.
What causes Leigh Syndrome?
It is primarily caused by mutations in mitochondrial DNA, which impair cellular energy production. In some cases, nuclear DNA mutations may be involved.
How is Leigh Syndrome diagnosed?
Diagnosis involves clinical evaluation, neuroimaging, and genetic testing such as the Leigh Syndrome Mitochondrial Mutation Detection Test to identify specific mutations.
What is the Leigh Syndrome Mitochondrial Mutation Detection Test?
This test analyzes mitochondrial DNA from a blood sample to detect mutations associated with Leigh syndrome, aiding in accurate diagnosis.
How is the test performed?
The test uses PCR and sequencing techniques on a whole blood sample to identify mutations in mitochondrial DNA.
What is the cost of the test?
The test costs INR 7500 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What are the symptoms of Leigh Syndrome?
Common symptoms include developmental delays, movement disorders, muscle weakness, breathing difficulties, seizures, and vision/hearing problems.
How long does it take to get the test results?
If the sample is received by Monday 9 AM, reports are typically available by Friday.
What should I do if the test is positive?
A positive result confirms Leigh syndrome; consult a neurologist or geneticist for management, treatment options, and family planning advice.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection at the puncture site.
Is the test covered by insurance?
Coverage depends on your insurance policy; check with your provider. The test is not covered under schemes like PMJAY or CGHS by default.
Is genetic counseling provided with the test results?
Yes, genetic counseling is included as part of the test package to help interpret results and discuss implications for family planning.
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.

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✓ 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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