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Screening test for galactosemia
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
Classic galactosemia can be diagnosed by analysis of GALT enzyme.
The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood
For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
This test is not appropriate for the diagnosis or monitoring of galactosemia. For diagnosis, see GCT / Galactosemia Reflex, Blood. For monitoring, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
See Galactosemia Testing Algorithm in Special Instructions