GALACTOSEMIA GENE MUTATION DETECTION / EDTA BLOOD

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The Galactosemia Gene Mutation Detection test by Metropolis Healthcare identifies pathogenic variants in the GALT gene responsible for classic galactosemia, a metabolic disorder affecting the body’s ability to process galactose. Early detection is crucial, as untreated galactosemia can lead to liver dysfunction, feeding intolerance, cataracts, and developmental delays. This test uses advanced molecular techniques to accurately detect common and clinically relevant mutations from an EDTA blood sample. Metropolis Healthcare ensures reliable analysis to support prompt diagnosis, dietary management, and genetic counselling

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Price: Rs. 8,925.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0074

Frequently Asked Questions (FAQ's):

What does this test detect?
It identifies mutations in the GALT gene that cause classic galactosemia, a disorder affecting galactose metabolism.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses high-precision molecular methods to detect common GALT gene mutations with clinical significance.

Who should consider this test?
Newborns with abnormal metabolic screening, infants with feeding issues or liver dysfunction, and families with a history of galactosemia.

What sample is required?
An EDTA whole blood sample is used for DNA extraction and genetic mutation analysis.

Is fasting or preparation required?
No fasting or special preparation is needed for this test.

How long do results take at Metropolis Healthcare?
Reports are typically available within a few working days depending on laboratory processing.

How will the results help?
They confirm diagnosis, guide dietary restrictions (galactose-free diet), and support genetic counselling for families.

Can this test be used for carrier screening?
Yes, Metropolis Healthcare can use this test to identify carriers, especially in families with known GALT mutations.

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