Preferred Sample Type
Suitable Specimen Types
- Li Hep
Specimen Transport
Please send to Ref Lab same day via round robin, courier or taxi. Do notsend by first or second-class post. Need to make arrangements with BCH and duty biochemist prior to dispatch. If not able to send same day store packed cells at 4 oC overnight.Sample Processing in Laboratory
Usual.Sample Preparation
Send whole blood/packed cells to Ref Lab .If sample cannot be sent same day store packed cells at 4 degrees, stable for several days.
Turnaround Time
1 weekSample Stability
4 ºCGalactose-1-phosphate Uridyl Transferase (Gal-1-PUT) (Also called 'Galactosaemia Screen)
General Information
Galactosaemia is a disorder of galactose metabolism which, if untreated, results in cirrhosis of the liver, blindness and mental retardation. Children with galactosaemia usually develop symptoms within a few days of starting lactose-containing milk. If detected early, the introduction of a galactose-free diet prevents the abnormalities from developing. Galactosaemia type 1 is due to a hereditary absence of the enzyme galactose-1-phosphate uridyl transferase (Gal-1-PUT).
False positives:
- Very old specimen/transport deterioration
- G6PD deficient patient
- High red cell concentration
- Incorrect anticoagulant eg. EDTA
- Severe anaemia.
False negatives:
- Blood transfusion
This test is for measurement of Galactose-1-phosphate Uridyl Transferase activity and is not for DNA analysis.
Indications for galactosaemia screen:
- prolonged jaunice with no liver dysfunction
- cataracts
- acute liver failure
- chronic liver disease
- hypoglycaemia
- rickets, tubulopathy
Patient Preparation
A blood transfusion within 6 weeks of sampling may invalidate results.
Notes
NB. Please contact duty biochemist (bleep 2506) before requesting this test.
EDTA samples are not suitable.
A blood transfusion within 6 weeks of sampling may invalidate results.
If above screening test is positive, send 2 mL of heparinised blood together with that of parents if possible.
PLEASE NOTE from 1st January 2018 the referral laboratory will no longer be carrying out a galactosaemia screen and a tyrosinaemia screen on all requests for either test. The tyrosinaemia screen has changed from a qualitative PBG synthase inhibition test to a quantitative succinly acetone which is more specific for tyrosinaemia type 1 (sample type is either dried blood sopts or plasma). Clinical indications for tyrosinaemia screen are acute liver failure, chronic liver disease, hypoglycaemia and rickets. It is not indicated in prolonged jaundice with no liver dysfunction or cataracts. As with the galactosaemia screen if clinical details are available appropriate testing will be performed by the referral laboratory.
Reference Range
Provided by reference laboratory
Specifications
- EQA Scheme?: Yes