GALACTOSEMIA GENE MUTATION DETECTION / EDTA BLOOD

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NABL Cap Accredited     
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

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 8,925.00

Sample Type: EDTA BLOOD

Fasting Not Required


Booking Procedure:
  1. Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
  2. Sample will be collected by our technician at your address at given slot.
  3. You can make the payment to the technician at the time of collection
  4. Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
  5. Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.

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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