Galactosemia Gene Mutations

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.