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Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia
Confirmation of abnormal state newborn screening results
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.
This test provides enzymatic testing for the diagnosis of galactose-1-phosphate uridyltransferase (GALT) deficiency.
See Galactosemia Testing Algorithm in Special Instructions.
Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)