Test guide
Galactosemia Tests
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. Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent.
What it is for
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. Source: MedlinePlus, National Library of Medicine. Medical test information is public domain. Source identity and definition checked automatically on 2026-10-18. No individual clinical interpretation or human reviewer is asserted.
Limitations
Reference intervals and interpretation depend on the laboratory, specimen, method and clinical context. This source definition is educational information; it does not establish a diagnosis, product approval or suitability for an individual.
Also known as
- galactosemia newborn screening test, GALT test
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