4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.
Enzyme assay
Sample Daily by 4 pm; Report 5 days
Classical Galactosemia due to complete deficiency of Galactose -1- phosphate uridyltransferase is characterised by poor growth, mental retardation, speech abnormalities, vison impairment due to cataract and liver enlargement. Partial deficiency of Galactose -1- phosphate uridyltransferase leads to Galactosemia Duarte variant.
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Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.