Description / Indication
Glucosylceramide / GlcCer is the main storage product in Gaucher disease. Its determination in plasma and urine is useful in the diagnosis of Gaucher disease due to glucocerebrosidase (beta-glucosidase) deficiency or due to an activator protein (Saposin C) deficiency.
Method
UPLC tandem MS
TAT
On request
Price
On request
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: This test can only be performed in EDTA plasma (not in heparin plasma).
Urine
- Amount: 2 ml, random specimen or 24-hour collection.
- Conditions: Dry ice.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.