Preferred Sample Type
Suitable Specimen Types
- Li Hep Plasma
Specimen Transport
Transport to Ref Lab at room temperature within 24hrs of collection.Sample Processing in Laboratory
ASAP to BHH.Sample Preparation
Do not centrifugeMUST send whole blood at room temperature to reference lab within 24hrs of venepuncture.
Turnaround Time
3 weeksSample Stability
4 ºCGalactose-1-Phosphate
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). Gal-1-PUT is used to exclude galactosaemia (also called galactosaemia screen). However transfusions may invalidate the results, in which case galactose-1-phosphate can usually be measured as an alternative.
Measurement of galactose-1-phosphate in erythrocytes is part of the monitoring of patients who are placed on a galactose free diet.
Patient Preparation
Patient must not have had any recent transfusions
Notes
Please contact duty biochemist (bleep 2506) before requesting this test.
EDTA samples are not suitable.
Galactose-1-phosphate is measured in erythrocytes to monitor patients with galactosaemia.
Reference Range
Provided by reference laboratory.
Specifications
- EQA Scheme?: No