Galactosemia Gene Mutations

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.