Diagnosis of Gaucher disease
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name