SAS Centre : Assays : Genetic Enzymes : Mucolipidoses


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

Assays / Genetic Enzymes / Mucolipidoses

Disorder	Enzyme or Test
Screen for all mucolipidoses	Oligosaccharides
a-mannosidosis*	a-mannosidase
b-mannosidosis*	b-mannosidase
Fucosidosis*	a-fucosidase
Sialidosis	a-N-acetylneuraminidase
Galactosialidosis	a-N-acetylneuraminidase and b-galactosidase
Aspartylglycosaminuria*	Aspartylglucosaminidase
Schindler disease*	a-N-acetylgalactosaminidase

(* = prenatal diagnosis available)