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 Leeds LS9 7TF |
| Advice | http://www.bimdg.org.uk/guidelines/guidelines-start.asp |
| 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 |
