Supra-Regional Assay Service
Centres for Analysis and Clinical Interpretation
Assays

Assays / Genetic Enzymes / Mucopolysaccharidoses (MPS)

Disorder

Enzyme or Test

Screen for all MPS

Glycosaminoglycans

Hurler disease* and Scheie disease*(MPSI)

a-iduronidase

Hunter disease* (MPS II)

Iduronate sulphatase

Sanfilippo disease type A* (MPS IIIA)

Heparan sulphamidase

Sanfilippo disease type B* (MPS IIIB)

a-N-acetylglucosaminidase

Sanfilippo disease type C* (MPS IIIC)

Glucosamine N-acetyltransferase

Morquio disease type A* (MPS IVA)

N-acetylgalactosamine 6-sulphatase

Morquio disease type B* (MPS IVB)

b-galactosidase

Maroteaux-Lamy disease* (MPS VI)

Arylsulphatase B

Sly disease* (MPS VII)

b-glucuronidase

Multiple sulphatase deficiency

Arylsulphatase A and other sulphatases

(* = prenatal diagnosis available)

Back to Lysosomal Storage Disorders Index

Back to Alphabetical List of Assays Available