MERRF MUTATION DETECTION BY PCR / EDTA BLOOD

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This test detects specific mitochondrial gene mutations associated with MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome, a rare neuromuscular disorder. Using PCR technology, it identifies common mutations—most frequently the A8344G mutation—in mitochondrial DNA. The test is useful for confirming clinical suspicion in patients with symptoms such as muscle weakness, seizures, ataxia, and hearing loss. It also helps in family studies, genetic counseling, and planning long-term management. Sample processed from EDTA whole blood.

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Price: Rs. 10,500.00

Sample Type: EDTA Blood

Fasting Not Required


Notes: M0036

Frequently Asked Questions (FAQ's):

What is the purpose of the MERRF Mutation Detection test?
This test helps confirm the diagnosis of MERRF syndrome by identifying specific mitochondrial DNA mutations.

What sample is required?
EDTA whole blood is required for mutation analysis by PCR.

Who should undergo this test?
Individuals presenting with symptoms like myoclonic seizures, muscle stiffness, poor coordination, developmental delay, or with a family history of mitochondrial disorders.

Is genetic counseling recommended?
Yes, counseling is important due to maternal inheritance patterns and for family planning decisions.

How long does the report take?

Reports are usually available within 10–14 working days depending on laboratory workflow 

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