GALACTOSEMIA CLASSICAL (TRANSFERASE), QUANTITATIVE, BLOOD
Classical Galactosemia due to complete deficiency of Galactose -1- phosphate uridyltransferase is characterized by poor growth, mental retardation, speech abnormalities, vision impairment due to cataract and liver enlargement. Partial deficiency of Galactose -1- phosphate uridyltransferase leads to Galactosemia Duarte variant.
Test Type: Blood
Pre-test Information: Avoid sample collection for 60 days post transfusion
Report Delivery: Sample Daily by 4 pm; Report 5 Days