NBS Total Galactose, Dried Blood Spot

The NBS Total Galactose, Dried Blood Spot test is a newborn screening test that measures the total amount of galactose in a dried blood spot sample collected from a newborn’s heel. It is used to screen for galactosaemia, a rare inherited metabolic disorder in which the body cannot properly break down galactose, a sugar naturally present in breast milk, infant formula, and dairy products. As a result, toxic substances accumulate in the body and can rapidly damage the liver, brain, eyes, and other organs. Babies with classic galactosaemia usually appear healthy at birth but may develop serious complications within days of starting milk feeds, making early detection through newborn screening critical. The test helps identify affected infants before severe symptoms develop, allowing prompt dietary intervention and significantly improving outcomes.

Who Should Get This Test Done?

This test may be recommended if:

●     Newborn is undergoing routine newborn screening for inherited metabolic disorders.

●     Baby develops symptoms such as poor feeding, vomiting, jaundice, lethargy, or failure to thrive during the first weeks of life.

●     Newborn has unexplained liver dysfunction, liver enlargement, hypoglycaemia, bleeding problems, or other signs of a metabolic disorder.

●     Baby develops severe E. coli infection or cataracts during the neonatal period.

●     There is a family history of galactosaemia, a previously affected child, or a sibling diagnosed with galactosaemia.

Why Consider This Test?

Galactosaemia is one of the most important disorders included in newborn screening because early diagnosis can be lifesaving. Without treatment, affected infants are at high risk of severe infections, liver failure, developmental complications, and even death within the first weeks of life. Identifying the condition early allows immediate introduction of a galactose-free diet, preventing many of the serious complications associated with the disease. Early treatment also improves long-term developmental outcomes and reduces the risk of neurological and reproductive complications later in life.

More Information

The test is performed using a few drops of blood collected from the baby’s heel, usually between 48 and 72 hours after birth, once feeding has been established. The test measures total galactose, including both free galactose and galactose-1-phosphate. An elevated result is considered a screening positive and requires urgent confirmatory testing, which may include enzyme analysis, galactose-1-phosphate measurement, and genetic testing. Because newborn screening is designed to identify babies at risk rather than provide a definitive diagnosis, abnormal results should always be followed by specialist evaluation.

Other Names

●     Newborn Screening Galactose Test

●     Galactosaemia Newborn Screen

●     Dried Blood Spot Galactose Test

●     Total Galactose Neonatal Screening

●     Heel Prick Galactose Test

●     Galactose Metabolic Screening Test

●     NBS Galactosaemia Screen

●     Galactose-1-Phosphate Newborn Screening

●     Neonatal Galactose Metabolism Test