https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/galactose-1-phosphate-uridyl-transferase/
Galactose -1-phosphate uridyl-transferase
EPIC
Galactosaemia (Gal-1-PUT)
Section
Chemical Pathology - Enzyme
Clinical indications
For diagnosis of classical galactosaemia (a disorder of carbohydrate metabolism characterised by the inability to metabolise galactose due to a deficiency of galactose-1-phosphate uridyl transferase)
Specimen requirement
2 mL lithium heparin whole blood. No transfusion within the prior 6 weeks
Dispatch and handling instructions
Send whole blood at ambient temperature to reach lab ideally within 24 hours of collection
Turnaround time
2 to 4 weeks
Synonym
Gal-1-PUT
Galactosemia
Galactosaemia
Is it IS0 15189 accredited?
Yes