Description / Indication
Glucosylsphingosine / lysoglucosylcerebroside is a storageproduct in Gaucher disease. Its determination is useful in the diagnosis of Gaucher disease due to glucocerebrosidase (beta-glucosidase) deficiency or due to an activator protein (Saposin B) deficiency.
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).