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

21 days


Mary Eggington/Ava Mishra

Phone: (03) 8341 6355

Specimen Requirements

0.5 ml clear CSF


NB: results are uninterpretable from blood-stained samples. If the sample is blood stained, it may be possible to rectify this by centrifuging the sample before it is frozen.

Sample should be frozen for storage and transport.