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8333M
GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT), BLOOD

Test Code 8333M 
Test GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT), BLOOD 
Methodology Ultraviolet, Kinetic 
Description This assay is a quantitative measurement of the enzyme GALT
and provides an approximation of the patient’s biochemical phenotype. A deficiency of this enzyme is the most common cause of galactosemia. A galactokinase deficiency is the second most common cause of galactosemia. Those patients with GALT values of 10.0 U/g of hemoglobin or less should be definitively characterized by phenotyping, see #80341 "Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes." This assay is not useful for diet monitoring of galactosemics, see #80337 "Galactose-1-Phosphate (Gal-1-P), Erythrocytes.” 
Specimen Draw blood in a lavender-top (EDTA) tube(s), and send 5.0 mL (minimum: 2.0 mL) of EDTA whole blood refrigerated in a screw-capped, plastic vial. SPECIMEN CANNOT BE FROZEN. 
Reference Values 18.5 - 28.5 U/g of hemoglobin 
Analytic Time 3 Days 
Day(s) Test Set Up Monday through Friday 
CPT Code(s) 82775