Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Mucopolysaccharidoses are disorders of the breakdown of glycosaminoglycans (GAGs). Clinical features include progressive connective tissue damage, dysmorphia, skeletal deformities, heptomegaly. Psychomotor retardation, respiratory disease and cardiac disease.
Quantitation of total GAGs is performed followed by 2D electrophoresis. Suggestive 2D patterns are confirmed by enzyme analysis in leucocytes.
MPS enzymes may be requested as follow-up to an abnormal urine screen or if known family history of a specific MPS disorder.
Specimen container paediatric:
Urine (plain white top container)
Specimen container adult:
Urine (plain white top container)
Minimum volume paediatric:
3 mL
Minimum volume adult:
3 mL
Sample stability:
Freeze the sample
Transport requirements:
First class post