|Downtime form:||A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery|
|Pink top tube 6 mL (K2-EDTA)|
1) Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent.
2) A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is required for accurate interpretation.
A more comprehensive interpretation can be provided when parental specimens are also submitted for testing.
Since transfusion results in replacement of significant number of red cells, the assay should be deferred for 90 days post-transfusion.
Galactosemia Confirmation with Reflex to Galt Gene Analysis, Whole Blood