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

7 days


Phone: 1300 11 8247
Email: [email protected]

Specimen Requirements

0.5 ml of clear CSF, snap frozen on dry ice.


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

Sample should be frozen for storage and transport.