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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test

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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test

Short Name: MELAS Mutation Detection Test

Also known as: MELAS Test, MELAS Mutation Analysis, Mitochondrial DNA Test for MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole blood samples. Results in Sample accepted Monday by 9 am; report delivered by Friday via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

Genetic Mutation Detection🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in mitochondrial DNA that cause Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS), aiding in diagnosis and management of the condition.

Test Code
1258
Price
₹7,500
Sample Type
Whole blood
Result Time
Sample accepted Monday by 9 am; report delivered by Friday via online portal, email, or WhatsApp.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting required. Inform the healthcare provider about any medications or recent procedures.

Method: Blood draw

Step 2

Laboratory Analysis

A phlebotomist will collect a blood sample from a vein in the arm using a lavender top (EDTA) tube. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. The sample will be refrigerated and shipped to the lab. Avoid strenuous activity with the arm used for collection.

Timeline: Sample accepted Monday by 9 am; report delivered by Friday via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:Complete the Genomics Clinical Information Requisition Form (Form 20). No fasting or special preparation is required.
2
During the Test:Blood sample collection via venipuncture; typically takes 5-10 minutes.
3
After the Test:Resume normal activities. Monitor the puncture site for any discomfort.

About This Test

Who Should Get This Test

To detect mutations in mitochondrial DNA that cause Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS), aiding in diagnosis and management of the condition.

How to Prepare

  • Collect 4 mL (2 mL min.) of whole blood in a lavender top (EDTA) tube.
  • Ship refrigerated; do not freeze.
  • Include the duly filled Genomics Clinical Information Requisition Form (Form 20).

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing is crucial for confirming MELAS diagnosis, enabling early intervention and management of symptoms to improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodBlood draw

Sample Stability

Room Temperature6 hours
Refrigerator (2-8°C)1 week
FrozenNot stable (NA)
Sample Rejection Criteria:
  • Sample not refrigerated during transport
  • Incorrect tube type or insufficient volume
  • Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
  • Sample hemolyzed, clotted, or contaminated

Understanding Your Results

Results indicate the presence or absence of specific mitochondrial DNA mutations associated with MELAS syndrome.
📊

Positive (Mutation Detected)

Confirms a genetic diagnosis of MELAS. Correlation with clinical symptoms is essential for management.

📊

Negative (No Mutation Detected)

No common MELAS-associated mutation identified. Does not entirely rule out MELAS or other mitochondrial disorders; further testing may be recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if experiencing symptoms such as seizures, stroke-like episodes, muscle weakness, lactic acidosis, or neurological decline, especially in childhood or early adulthood.

Limitations

  • May not detect all rare or novel mitochondrial mutations
  • Results should be interpreted in conjunction with clinical findings and family history
  • Cannot rule out other mitochondrial disorders without additional testing

Risks & Considerations

  • Minor bruising or pain at the puncture site
  • Rare risk of infection or dizziness

Interfering Factors

  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Contamination during collection or transport
  • Recent blood transfusion (may affect DNA analysis)

Compare With Similar Tests

TestMitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection TestLactic Acid TestMuscle BiopsyBrain MRI
ComparisonMitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test

Frequently Asked Questions

What is MELAS syndrome?
MELAS is a rare genetic disorder caused by mitochondrial DNA mutations, leading to energy production issues and symptoms like seizures, stroke-like episodes, and lactic acidosis.
Who should consider the MELAS Mutation Detection Test?
Individuals with symptoms such as recurrent seizures, muscle weakness, lactic acidosis, or neurological issues suggestive of mitochondrial disorder.
How is the test performed?
The test analyzes a blood sample using PCR and sequencing to detect specific mitochondrial DNA mutations associated with MELAS.
What is the cost of the MELAS test at DNA Labs India?
The test costs INR 7500, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home collection for online bookings in numerous cities across India.
How long does it take to get the results?
Results are typically available within 5 business days if the sample is received by Monday 9 am.
What does a positive result mean?
A positive result confirms the presence of a MELAS-associated mutation, aiding in diagnosis, but should be correlated with clinical symptoms.
What does a negative result mean?
A negative result means no common MELAS mutations were detected, but it does not rule out the condition entirely; further evaluation may be needed.
Is fasting required before the test?
No, fasting is not required. However, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Can children undergo this test?
Yes, the test is suitable for all ages, as MELAS symptoms often begin in childhood.
Is genetic counseling recommended after testing?
Yes, genetic counseling is advised to understand results, implications, and family planning options.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising or discomfort. No significant risks are associated with genetic testing itself.
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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