FRIEDREICH ATAXIA MUTATION ANALYSIS / EDTA BLOOD

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The Friedreich Ataxia Mutation Analysis at Metropolis Healthcare detects expansions in the FXN gene associated with Friedreich Ataxia, a progressive neurogenetic disorder. This test helps confirm the diagnosis in individuals presenting with coordination difficulties, gait abnormalities, or early-onset ataxia. It is also useful for carrier testing and family screening. Metropolis Healthcare uses high-precision molecular techniques to ensure accurate and reliable genetic results

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Price: Rs. 7,475.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: F0051

Frequently Asked Questions (FAQ's):

What does the Friedreich Ataxia mutation test detect?
It identifies GAA repeat expansions in the FXN gene linked to Friedreich Ataxia.

Who should undergo this test?
Individuals with symptoms of ataxia, muscle weakness, or a family history of the condition.

How does Metropolis Healthcare perform this test?
Metropolis uses advanced molecular assays to measure GAA repeat size in the FXN gene.

Is this test useful for carriers?
Yes, it can detect carriers who may not show symptoms but can pass the mutation to children.

What sample is required?
An EDTA blood sample is collected for genetic analysis.

Do I need any preparation?
No special preparation or fasting is required.

Can this test confirm the diagnosis?
Yes, it provides definitive confirmation of Friedreich Ataxia when mutations are detected.

How long do results from Metropolis Healthcare take?
Results are typically available within a few working days, depending on analysis complexity

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