Lysosomal Enzyme Screening

The SAS Enzyme Laboratory offers a series of grouped lysosomal enzyme assays using plasma and white cells to screen for lysosomal storage disorders.

For patients with neurodegeneration the following assays are carried out:

Plasma
White Cells
Hexosaminidase (total) Arylsulphatase A
Hexosaminidase A b-galactosidase
b-mannosidase Galactocerebrosidase
b-glucuronidase a-fucosidase
a-N-acetylgalactosaminidase a-mannosidase
Aspartylglucosaminidase

For patients with hepato(spleno)megaly with or without neurodegeneration the following assays are carried out:

Plasma
White Cells
b-glucuronidase b-glucosidase
b-mannosidase Sphingomyelinase
b-galactosidase
Acid Esterase
a-fucosidase
a-mannosidase

Specimen Reqirements: For a full screen please send 10 ml lithium heparin whole blood unseparated and unfrozen. Send at ambient temperature to the laboratory.

THE LABORATORY RECOMMENDS USE OF A COURIER SERVICE OR ROYAL MAIL SPECIAL DELIVERY FOR SENDING ALL SPECIMENS TO THE LABORATORY.

Please include brief clinical details. If less than 10 ml blood is received a complete screen may not be possible.
It may be appropriate to include urine for analysis of oligosaccharides and glycosaminoglycans with the blood sample for screening for a lysosomal storage disorders.

Back to Lysosomal Storage Disorders Index

Back to Alphabetical List of Assays Available


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