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Galactosemia Gene Mutations

The Galactosemia (GALT) Gene Mutation test detects mutations in the GALT gene responsible for the breakdown of galactose. Galactosemia is a metabolic disorder that can cause liver damage and cognitive impairment if untreated. Early diagnosis helps in dietary management and preventing complications.

Also known asGalactosemia (GALT) Gene mutation Galactosemia (GALT) Gene mutation

Available via

Home Collection, Lab Visit

Contains

2 parameters

Earliest reports in

8 Working Days

Test details

Galactosemia Gene Mutations Test in Pune Overview

Preparations

No special preparations needed

Test included
Galactosemia Gene Mutations includes 2 parameters

  • Specimen Source
  • Galactosemia Gene Mutations
Frequently Asked Questions

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

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.

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

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

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

Test code

RD1434

Specimen vol. and vacutainer information
SpecimenVacutainerVolume
Blood SpotNeoNatal Cards2
Edta Whole BloodLavender Vacutainer3 ML

Specimen stability information

Blood Spot, Edta Whole Blood

Specimen rejection criteria

Test run frequency

Every Day TIME - 09:30

Turn around time

8 Working Days

Performing locations

Department

  • Advanced Molecular Diagnostics R&d

CPT and Loinc codes

Galactosemia Gene Mutations

₹9000

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