|Values are valid only on day of printing.|
Diagnosis of Gaucher disease
Preferred specimen for diagnostic testing. 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.