Fabry Disease (aka Anderson-Fabry Disease, Alpha-galactosidase A deficiency) Specimen Blood spot card using EDTA blood sample. A minimum of 2 fully filled blood spots Please indicate if patient has consented for DNA analysis (not required in males with normal enzyme activity). Follow-up, confirmatory testing in plasma and leucocyte analysis is required in low enzyme activity, […]
ViewGaucher Disease (aka Beta-glucosidase deficiency, β-glucosidase deficiency) Specimen 6 ml EDTA blood sample. 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 results in the accumulation of harmful quantities of […]
ViewFabry Disease (aka Anderson-Fabry Disease, Alpha-galactosidase A deficiency) Specimen Blood spot card using EDTA blood sample. A minimum of 2 fully filled blood spots Please indicate if patient has consented for DNA analysis (not required in males with normal enzyme activity). Units nmol/hr/ml Reference Range 4 – 21.9 nmol/hr/ml Test Usage Fabry disease in an […]
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