Assays / Genetic Enzymes / 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:

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

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