|Values are valid only on day of printing.|
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
This test is used to monitor dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase.
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.
To diagnose epimerase deficiency, order GALE / UDP-Galactose 4' Epimerase, Blood.
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
This assay is used to monitor dietary compliance for patients with galactose-1-phosphate uridyltransferase (GALT) deficiency or uridine diphosphate galactose-4-epimerase (GALE) deficiency.
See Galactosemia Testing Algorithm in Special Instructions