|Values are valid only on day of printing.|
Diagnosis of Gaucher disease
Not recommended for carrier detection; instead order GAUP / Gaucher Disease, Mutation Analysis, GBA.
Gaucher disease (GD) is a lysosomal storage disorder that encompasses a spectrum of clinical features ranging from asymptomatic to perinatal lethal.
Type 1 is the most common form of GD (95% of cases) and is the presentation commonly found among Ashkenazi Jewish patients.
Diagnosis of GD depends on the demonstration of absent or deficient activity of acid beta-glucosidase in leukocytes or other nucleated cells.
Because of the overlap in enzyme activity between carriers and noncarriers, this test cannot be used to establish carrier status.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.
BGLT: Fluorometric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage