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.

Category

Cost

$350

Reporting time

21 days

Contacts

Mary Eggington/Ava Mishra

Phone: (03) 8341 6355

Specimen Requirements

At least 5 ml of urine (preferably early morning but random is acceptable). Store and transport frozen.

Notes

For the diagnosis of peroxisomal disorders, bile acid biosynthetic defects, CTX.