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.