Galactose-1-Phosphate Uridyl Transferase (Gal-1-PUT) Galactosaemia screen
Gal-1-PUT is an enzyme in galactose metabolism. Deficiency in this causes the most common form of galactosaemia.
If galactosaemia is suspected a common clinical history can include: lethargy, poor feeding, vomiting, jaundice, failure to thrive and liver failure.
|Heparin (no gel)
|Specialist Laboratory Medicine
St James hospital
|Minimum volume: 0.5 mL
Instructions for lab: Do not separate as whole blood required. Send to Block 46. If storage required (overnight or over the weekend) store at room temperature.
Please discuss with Biochemical Genetics lab prior to rejecting any samples.
|Whole blood. Gently but well mix to avoid blood clots. Analysis unreliable if patient has been transfused in past 6 weeks; if so please contact the Biochemical Genetics lab before sample collection.
|Ref. Range Notes
|Enzyme activity reported as normal or absent.
|Galactosaemia screen: GPUT1J
|Galactosaemia screen: JGPUT