Acid β-Glucosidase (Gaucher Disease)

Test Description:

Gaucher disease is the most common lysosomal storage disease, affecting approximately 1 in 40,000 people in the general population and 1 in 450 in the Ashkenazi (Eastern European) Jewish population. The condition is inherited in an autosomal recessive pattern and caused by deficiency of a-glucocerebrosidase which leads to accumulation of glucocerebroside (glucosylceramide) in cells of monocyte or macrophage lineage including spleen, liver and bone marrow. Symptoms of the disease vary from mild to severe and may appear at any age, from infancy to adulthood. Common symptoms include hepatosplenomegaly, anemia, thrombocytopenia, bone pain and fractures and excessive fatigue. Flurometric enzyme analysis using artificial substrate 4-methylumbelliferyl (4-MU)-a-glucoside is used to measure a-glucosidase activity in leukocyte for diagnosing Gaucher disease. This assay is not reliable for detection of gene carriers. Carrier testing can be accomplished through molecular analysis of the GBA gene.

Specimen Requirements:
2 tubes of 5-10 ml of blood in sodium heparin (green top) tube or 1-2 leukocyte pellets

Shipping:
Ship whole blood at room temperature. Sample must be received within 24 hrs of collection.
Ship leukocyte pellet frozen on dry ice.

Turnaround Time: 10-14 days

CPT Codes: 80500, 82963, 84155

Requisition Form: General Test Requisition [PDF]