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Galactosemia Gene Mutations

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

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

₹9000

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