children s health issues
Galactosemia
Diagnosis of Galactosemia
Blood and urine tests Galactosemia is detectable with a blood test. This test is done as a routine Newborn Screening Tests in all states in the United States. Before conception, adults with a sibling or child known to have the disorder can be tested to find out whether they carry the gene that causes the disease. If two carriers conceive a child, that child has a 1 in 4 chance of being born with the disease. Another test is done to look for elevated levels of galactose in the urine. 