Skip to main content
DNA Labs India

MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test

DNA Labs India | ISO 9001:2015 Certified

MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test

Short Name: MERRF Mutation Detection Test

Also known as: MERRF syndrome, Myoclonic Epilepsy with Ragged Red Fibres

MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test test available at DNA Labs India for ₹16,000. Uses PCR on Whole blood samples. Results in Report available in 10 days. Free home collection in 300+ cities across India.

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

To identify pathogenic mutations in mitochondrial DNA associated with MERRF syndrome for diagnostic confirmation and management.

Test Code
1229
Price
₹16,000
Sample Type
Whole blood
Result Time
Report available in 10 days
Fasting Required
No
Method
PCR
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and submitted with the sample.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood will be drawn from a vein in your arm using standard venipuncture procedure.

Step 3

Report Delivery

Apply pressure to the puncture site for a few minutes. Avoid heavy lifting with that arm.

Timeline: Report available in 10 days

Patient Instructions

1
Before the Test:Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and submitted with the sample.
2
During the Test:Standard blood draw procedure will be performed.
3
After the Test:Apply pressure to the puncture site and avoid strenuous activity.

About This Test

Who Should Get This Test

To identify pathogenic mutations in mitochondrial DNA associated with MERRF syndrome for diagnostic confirmation and management.

How to Prepare

  • Collect 4 mL whole blood in a lavender top EDTA tube
  • Label the sample with patient details
  • Ship refrigerated, do not freeze
  • Include completed Form 20

Doctor's Notes

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

"Genetic testing for MERRF is crucial for accurate diagnosis and management, especially in families with a history of mitochondrial disorders."

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

Refrigerated: up to 1 week
Not suitable for frozen storage
Sample Rejection Criteria:
  • Insufficient sample volume (<2 mL)
  • Hemolyzed or clotted sample
  • Incorrect tube type
  • Missing or incomplete Form 20

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in mitochondrial DNA associated with MERRF.
Positive: Mutation detected, supporting diagnosis of MERRF syndrome
Negative: No mutation detected, but clinical correlation is advised due to possible other causes
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If you experience symptoms such as myoclonic seizures, progressive muscle weakness, or have a family history of mitochondrial disorders, consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all rare mitochondrial mutations
  • ⚠Requires correlation with clinical symptoms and family history
  • ⚠Interpretation should be performed by a geneticist

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolysis

Compare With Similar Tests

TestMERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection TestWhole Mitochondrial Genome SequencingEpilepsy Gene Panel
ComparisonMERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test

Frequently Asked Questions

What is MERRF syndrome?
MERRF syndrome is a rare mitochondrial disorder that affects the nervous system and muscles, causing symptoms like myoclonic epilepsy and ragged red fibres in muscle tissue.
What causes MERRF syndrome?
It is primarily caused by mutations in mitochondrial DNA, such as the m.8344A>G mutation in the MT-TK gene, which is maternally inherited.
What are the common symptoms of MERRF?
Common symptoms include myoclonic seizures, muscle weakness and wasting, ataxia, hearing loss, vision problems, cognitive impairment, and cardiac abnormalities.
How is MERRF diagnosed?
Diagnosis involves a combination of clinical symptoms, family history, and genetic testing, such as the MERRF mutation detection test.
What does the MERRF mutation detection test involve?
The test uses PCR to detect specific mutations in mitochondrial DNA from a blood sample.
How much does the MERRF test cost in India?
The cost is INR 16,000, with free home sample collection available in many cities.
Is home collection available for this test?
Yes, free home collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 10 days after sample collection.
What sample is required for the test?
4 mL of whole blood collected in an EDTA tube is required.
Are there any risks associated with the test?
Risks are minimal, including minor bruising at the blood draw site and rare infection risk.
What should I do if the test is positive?
Consult a neurologist or geneticist for further evaluation, management, and genetic counseling.
Can MERRF syndrome be treated?
There is no cure, but symptoms can be managed with medications, physical therapy, and supportive care.
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

Myotonic Dystrophy Comprehensive Profile Test

₹11,000

MYF6 Gene Centronuclear Myopathy Type 3 NGS Genetic Test

₹20,000

DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test

₹7,500

KIF7 Gene Acrocallosal Syndrome NGS Genetic Test

₹20,000

APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test

₹20,000

CST3 Gene Cerebral Amyloid Angiopathy NGS Genetic Test

₹20,000
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.