|Print View Attached Docs:|
|Alias Names:||Acid Beta-Glucosidase / BGL|
|Specimen Collection Details|
|Collection:||One 8.5 mL yellow top tube (ACD). Collect Monday-Wednesday before 1:00 pm only, and not the day before a holiday.|
|Handling:||Do not transfer blood to other containers. Refrigerate. Do not freeze. Specimen must arrive at reference laboratory within 48 hours of collection.|
|Standard Volume:||6 mL whole blood|
|Minimum Volume:||5 mL whole blood|
|Comments:||Useful for diagnosis of Gaucher’s Disease. Not recommended for carrier detection. This method is not recommended for carrier detection unless a family study is done simultaneously. Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.
Beta-glucosidase is a lysosomal enzyme required for the hydrolysis of glucocerebroside. Glucocerebroside is an intermediate in the degradation of more complex glycosphingolipids; the deposition of glucocerebroside in macrophages of the reticuloendothelial system leads to the “Gaucher’s cells” found in spleen, bone marrow, lung, and liver. Organomegaly, thrombocytopenia, and bone pain result. Gaucher’s disease, inherited as an autosomal recessive disease, is caused by a deficiency of beta-glucosidase resulting in increased storage of glucosylceramide. There are three clinical types of Gaucher’s disease: adult/chronic; acute neuropathic/infantile; subacute neuropathic/juvenile (splenomegaly and hepatomegaly are usually present). These are also designated Types I through III, respectively. Type I is usually found in Jewish kindreds. Treatment with Ceridase is currently being used for moderate to severely affected patients. Involvement of the central nervous system is limited to the infantile type. Gaucher’s cells are characteristic of the disease and are large histiocytes derived from endothelial cells and found in spleen, liver, bone marrow, lymph nodes, and lungs.
|Rejection Criteria:||Gross hemolysis; use of tube other than specified; specimen other than whole blood.|
|0.08-0.35 U/10(10) cells|
|Values <0.05 U/10(10) cells are consistent with a diagnosis of Gaucher disease.|
|Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.|