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
Leeds
LS9 7TF
Advice
British Inherited Metabolic Diseases Group
Contact
For further details please contact Leeds Pathology customer services: [email protected].
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.