Galactosemias newborn screen interpretation

A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents.

A galactosemia test is used to help diagnose galactosemia in a baby. It may also help identify whether it is a GALT, GALK, or GALE deficiency.