|Test||GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE BIOCHEMICAL PHENOTYPING, ERYTHROCYTES|
|Description||This assay is useful for determining the likely genotype when
quantitative galactose-1-phosphate uridyltransferase (GALT)
data suggests a GG or DG genotype (a patient with a GG genotype
must be on a galactose-free diet). The biochemical phenotype of a
child should be identified when the activity of GALT is 10.0 U/g of
hemoglobin or less. Clinical symptoms are not noted with higher
GALT activity. A quantitative GALT level (#8333 "Galactose-1-Phosphate Uridyltransferase [GALT], Blood") is used in addition to the isoelectric focusing for accurate interpretation. If GALT has not been done previously, it must be ordered at an additional charge.
|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.
NOTE: Patient's age is required on the test form for processing.
|Reference Values||Descriptive report|
|Analytic Time||1 Day|
|Day(s) Test Set Up||Monday, Friday|