|Values are valid only on day of printing.|
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia
Confirmation of abnormal state newborn screening results
Enzyme testing only. See GCT / Galactosemia Reflex, Blood for comprehensive diagnostic, carrier testing, and follow-up of abnormal 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.
GCT / Galactosemia Reflex, Blood is the preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results.
For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
See Galactosemia Testing Algorithm in Special Instructions.
Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)