BGLR - Overview: Beta-Glucuronidase, Fibroblasts

Test Catalog

Test ID: BGLR    
Beta-Glucuronidase, Fibroblasts

Useful For Suggests clinical disorders or settings where the test may be helpful

Detection of mucopolysaccharidosis type VII

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Diagnostic testing. Not recommended for carrier detection.


Deficiency of the enzyme beta-glucuronidase in fibroblasts is diagnostic for mucopolysaccharidosis VII (MPS VII) or Sly syndrome.


Enzyme analysis of beta-glucuronidase in fibroblasts cannot reliably detect carriers.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

BGLR: Fluorometric Enzyme Assay

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Beta-Glucuronidase, Fibroblasts

Aliases Lists additional common names for a test, as an aid in searching

Beta-Glucuronidase Deficiency
Glucuronidase Deficiency MPS
Glucuronidase, Beta
GUSB Deficiency
Mucopolysaccharidosis VII
Sly Syndrome