Gaucher Disease (aka Beta-glucosidase deficiency, β-glucosidase deficiency) Specimen EDTA blood sample used to make a blood spot card in the laboratory. Sample cannot be shared for other tests. Units nmol/hr/ml Reference Range 1 – 5 nmol/mg/hr Test Usage Gaucher disease (β-glucosidase deficiency) is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase […]
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