Pathology Handbook

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Galactoscreen

Alternative Names:Beutler test
Galactose-1-phosphate uridyl transferase (GALT) activity
Galactoscreen
Laboratory:Molecular
Test Code:VCG
Medicare rebatable:No
Registration Instructions:

Cost: $52

Specimen Types:Blood
Container Types:
Lithium Heparin (without Gel)Lithium Heparin (without Gel)
Adults Volume or Mass:1 mL
Minimum/Paediatric Volume or Mass:1 mL
Collection & Request Instructions:

Specimen Requirements

At least 0.5 ml blood in a heparin (Green top) tube.

Collect whole blood specimen prior to any blood transfusion.

Transport Instructions:Store at 4C
Processing Instructions:Do Not Centrifuge
Store at 4'C
http://www.vcgs.org.au/pathology/sections/Metaboli
Assay Frequency:Daily
External Laboratory:Victorian Clinical Genetics Service
  External Laboratory details...
Additional Notes:

Reporting time: 1 day

Overview

A metabolic disorder results when an enzyme responsible for the breakdown of our food is defective which results in compounds, also known as metabolites, accumulating in blood or urine. Incorrect metabolism means your body might have too much or too little of a metabolite which can have detrimental impacts on normal growth and development.

Notes

For the diagnosis of GALT deficiency. Other forms of galactosaemia are not detected.

Contacts

Phone: 1300 11 8247
Email: vcgs@vcgs.org.au