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Test ID: BGLR
Beta-Glucuronidase, Fibroblasts

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

Detection of Type VII mucopolysaccharide storage disease

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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The enzyme beta-glucuronidase is required for the degradation of nearly all mucopolysaccharides. Its deficiency results in an autosomal recessive mucopolysaccharide storage disease designated Type VII. The phenotypic presentation of the patient may vary significantly in that the onset may be noted anywhere from infancy to adulthood. Generally, dysostosis multiplex is present, but intelligence may be near normal.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

0.34-1.24 U/g of cellular protein

Interpretation Provides information to assist in interpretation of the test results

Patients with Type VII mucopolysaccharide storage disease (Sly syndrome) are deficient of beta glucuronidase.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Diagnosis of this lysosomal disorder is only available on fibroblasts. Carriers have not been reliably detected by thismethod.

 

Interfering factors:

-Lack of viable cells or bacterial contamination

-Failure to transport tissue in an appropriate media

-Excessive transport time,

-Exposure of the specimen to temperature extremes (freezing or  >30 degrees C)

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

Neufeld EF, Muenzer J: The mucopolysaccharidoses.  In The Metabolic and Molecular Basis of Inherited Disease.  Vol. 3. 8th edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, NY, McGraw-Hill Book Company, 2001, pp 3421-3441

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