Testing is available for Gaucher disease
An assay of glucocerebrosidase activity can help confirm a diagnosis. Many commercial labs offer testing of glucocerebrosidase activity:
|Test||Gaucher Disease Enzyme Assay (Glucocerebrosidase)|
|Keyword search||Gaucher disease, glucocerebrosidase|
|Typical specimen type||5-10mL whole blood|
You can order this test directly from your patient’s chart if your EHR is connected to your preferred labs.