Chemical Pathology - Enzyme

Clinical indications

For diagnosis of mucopolysaccharidoses - a group of inherited diseases characterised by excessive storage and excretion of glycosaminoglycans (GAGs), long-chain carbohydrate polymers consisting largely of characteristic repeating disaccharide units

Specimen requirement

1. 5 mL fresh random urine collected in a plain universal container with no preservative or

2. Amniotic fluid

Dispatch and handling instructions

1. Freeze sample and send frozen by special post. Do NOT allow sample to thaw. To reach lab as soon as possible

2. Contact the Enzyme Laboratory PRIOR to sampling and shipping

Turnaround time

1. 4 weeks

2. As soon as practically possible


GAGs, MPS, Mucopolysaccharides, Mucopolysaccharidosis, Dermatan sulphate, Heparan sulphate, Keratan sulphate, Chondriotin sulphate

Is it IS0 15189 accredited?

1. Yes

2. Yes