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Galactosemia Gene Mutations

Available viaHome Collection, Lab Visit
GenderMale & Female
Contains2 parameters
Earliest reports in8 Working Days
PreparationNo preparation needed

Overview of Galactosemia Gene Mutations in Thane

What is the Galactosemia Gene Mutations Test?

This test detects mutations in the GALT gene, responsible for galactosemia, a disorder affecting galactose metabolism.


Who should get this test?

This test is recommended for:

Newborns with a positive newborn screening result.
Infants presenting with jaundice, vomiting, or failure to thrive.
Individuals with a family history of galactosemia.



How is the test performed?

A blood sample is analyzed using DNA sequencing or PCR to detect mutations in the GALT gene.


What do the results indicate?


Positive Mutation: Confirms galactosemia diagnosis.
Negative Mutation: Rules out galactosemia but does not exclude other metabolic disorders.



Why is this test important?

Early detection and management prevent severe complications, including liver damage and developmental delays.

Test included

Galactosemia Gene Mutations includes 2 parameters

  • Specimen Source
  • Galactosemia Gene Mutations

Test code

RD1434

CPT and Loinc codes

Department

  • Advanced Molecular Diagnostics R&d

Turn around time

8 Working Days

Test run frequency

Every Day TIME - 09:30

Performing locations

2 labs across India

Specimen vol. and vacutainer information

SpecimenVacutainerVolume
Blood SpotNeoNatal Cards2
Edta Whole BloodLavender Vacutainer3 ML

Specimen stability information

Blood Spot, Edta Whole Blood

Galactosemia Gene Mutations test price for other cities
City namePrice
Galactosemia Gene Mutations test price in Chennai₹9000
Galactosemia Gene Mutations test price in Gurugram₹9000
Galactosemia Gene Mutations test price in Hyderabad₹9000
Galactosemia Gene Mutations test price in Amritsar₹9000
Galactosemia Gene Mutations test price in Kolkata₹9000
Galactosemia Gene Mutations test price in Lucknow₹9000
Galactosemia Gene Mutations test price in Mumbai₹7490
Galactosemia Gene Mutations test price in Mysuru₹7500
Galactosemia Gene Mutations test price in New delhi₹9000
Galactosemia Gene Mutations test price in Bengaluru₹9000

Galactosemia Gene Mutations

₹7490

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GALACTOSEMIA GENE MUTATIONS Test in Other Cities

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