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Pathology and Laboratory Medicine
Test Catalogue

​Beta-Glucuronidase, Dried Blood Spot

Chemistry


Specimen Requirements​ ​

Type​
  • ​Whole blood 
​Container
​Required Volume
  • Optimal Volume: 4mL whole blood 
  • Minimum/Pediatric Volume: 1mL whole blood

Stability/Storage
  • ​Whole blood must be received within 24 hours of collection 

  • Store whole blood at room temperature 

  • Neonatal Screen Card should be spotted with whole blood within 24 hours of collection 

  • Once spotted, the Neonatal Screen Card should be stored at -20°c or below if held for greater than 48 hours

Grounds for Rejection​

Testing Information​ ​

Availability​
  • ​Monday to Thursday 0800 – 1400 hours
Testing Site​
  • Referred out by St. Paul's Hospital Laboratory to Greenwood Genetic Center
​Results Reporting
  • 2 week turnaround time by referral laboratory
​Methodology
  • Quantifies levels of beta-glucuronidase via the 4-methylumbelliferyl substrate
​Clinical Interpretation
  • The Neonatal Screen card will be spotted when whole blood received in the lab.

  • This test can be used as a 1ST tier test for patients suspected with Mucopolysaccharidosis VII (MPS VII; also known as Sly syndrome).  MPS VII is a highly variable lysosomal disorder with a range of presentation from severe hydrops fetails in utero to a mild form with an intermediate phenotype including hepatomegaly, coarse facial features, and cognitive impairment.  MPS VII is caused by a deficiency of beta-glucuronidase. 
​Alternate Test Names
  • ​Sly Syndrome (MPS V11)
  • I – Cell (ML11)
​SHR LIS Test Code
  • ​GLUNB (For Laboratory Use Only)

Testing Ordering Requirements​ ​

Forms Required

Patient History​ ​

​Relevant Clinical History
  • ​Family history Must include diagnosis and/or patient symptoms on the requisition


​If you choose to print this information, it is valid only on date of print.

Laboratory Controlled Document LSM-383 v2

Last Modified: Tuesday, January 22, 2019 |
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