If your child has had a positive screen for galactosemia through a newborn screening program, other tests still need to be done in order to confirm the diagnosis. One of these special tests detects the amount of GALT enzyme present in red blood cells and is often used to confirm galactosemia.
Other blood or urine tests may be helpful to determine whether your child needs treatment or whether treatment is working properly. Ask your doctor if you have any questions about testing for galactosemia.