Physicians diagnose Gaucher disease (pronounced go-SHAY) with a standard blood test called a beta-glucosidase leukocyte (BGL) test available through major laboratories, i.e. Counsyl, …

The BGL test is used to determine the level of beta-glucocerebrosidase activity in the blood. A small amount of blood is collected from the patient and tested in a laboratory. A hospital stay is …

Testing for Gaucher disease (pronounced go-SHAY) is easy and involves a standard blood test called a beta-glucosidase leukocyte (BGL) test. Patients must often request it because most …

Flow Injection Analysis-Tandem Mass Spectrometry. This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CUA requirements. This …

Gaucher disease occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of approximately 1 in 15. It is a lysosomal storage disorder with …

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Gaucher disease. Enzyme testing is included in the diagnostic workup for infants following a …

Demonstration of deficient beta-glucosidase enzyme activity is considered the gold standard to confirm a diagnosis of Gaucher disease. In addition, this assay can be used to clarify …

Since most doctors are unfamiliar with Gaucher disease, you may need to ask for this test. The test is called a beta-glucosidase leucocytes (BGL) test. Reasons you might request a BGL test …

Enzyme determinations in DBS samples are useful screening tests in clinically suspected individuals. Samples with BGLU activity below cut-off values require confirmation by …

Confirmation testing can be done through a beta-glucosidase leukocyte (BGL) test or genetic testing. The BGL test checks for insufficient levels of enzyme activity while the genetic test …