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.
Typically < 2 weeks
At least 2 ml of blood in a serum gel tube. Separate and freeze serum for storage and transport.
For the diagnosis of congenital disorders of glycosylation (CDG).