This genetic test analyzes mutations in the mitochondrial DNA associated with Neurogenic Ataxia and Retinitis Pigmentosa (NARP) syndrome. NARP is a rare mitochondrial disorder affecting the nervous system, vision, and muscle function. Symptoms may include progressive ataxia, peripheral neuropathy, muscle weakness, and visual impairment. Early and accurate genetic diagnosis helps in clinical management, supportive therapies, and family screening. Testing is performed using EDTA blood
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Price:
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Sample Type: EDTA Blood
Fasting Not Required
Notes: N0002
Frequently Asked Questions (FAQ's):
What is NARP syndrome?
NARP is a progressive mitochondrial condition characterized by impaired balance (ataxia), nerve damage, and vision loss due to retinal degeneration.
Why is this test performed?
It is recommended when NARP or related mitochondrial disorders are suspected based on neurological or ophthalmologic symptoms.
What sample is required for testing?
EDTA whole blood is required for mitochondrial DNA analysis.
Is genetic counseling needed?
Yes, genetic counseling is strongly recommended for interpretation and family planning decisions.
Is fasting needed for this test?
No, fasting is not required