Description / Indication
Globotriaosylceramide / Ceramidetrihexoside/ Gb3 is the main storage product in Fabry disease. Its determination in plasma and urine is useful in the diagnosis of male Fabry patients. Plasma Gb3 is not useful in female carriers and determination in urine has limited value.
Method
UPLC-MS/MS
TAT
On request
Price
On request
Materials:
Plasma
- Amount: 500 µl.
- Conditions: Dry ice.
- Specifics: EDTA plasma (preferred material), heparin plasma also suitable.
Urine
- Amount: 2ml, random specimen or 24-hour urine.
- Conditions: Dry ice.
* Note: This test is not covered by the ISO15189 accreditation of the laboratory.