Galactosemia Tests

Explanation

Galactosemia tests investigate inherited problems with processing galactose, a sugar found in milk and other foods.

What does newborn screening check?

Galactosemia affects the body’s ability to process galactose, a type of sugar. Newborn screening uses a small blood sample. It may measure the activity of an enzyme the body needs to process galactose and may also assess galactose-related substances in the blood.

What happens after an unusual result?

An out-of-range screening result does not confirm galactosemia. Follow-up may include additional blood or urine tests and genetic testing. Because classic galactosemia can cause serious illness early in life, prompt follow-up matters even when a baby does not yet appear unwell. The exact follow-up depends on the screening program and clinical assessment.

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