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.




Reporting time

5 days


Mary Eggington/Ava Mishra

Phone: (03) 8341 6355

Specimen Requirements

At least 5 ml of urine, store and transport frozen.


For diagnosis, samples taken during acute episodes are most suitable.

Otherwise, an early morning specimen is preferred but a random sample is also acceptable. Please provide brief clinical notes.