The Leeds Teaching Hospitals NHS Trust

Galactose-1-Phosphate Uridyl Transferase (Gal-1-PUT) Galactosaemia screen

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.

Tube Heparin (no gel)
ID 29951
Availability Weekdays
Turn Around 7 days
Send to Specialist Laboratory Medicine
Block 46
St James hospital
Beckett Street
Collection Con 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.
Frequency As required
Sample REQ 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.
Telepath Galactosaemia screen: GPUT1J
ICE Codes Galactosaemia screen: JGPUT