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Pathology and Laboratory Medicine
Test Catalogue



Specimen Requirements​ ​

  • ​Whole blood
  • Dried blood spots are made when specimen is received in the lab
​Required Volume
  • Optimal Volume: 4 mL whole blood
  • Minimum/Pediatric Volume: 1 mL whole blood
    (Submitting the minimum volume makes it impossible to repeat the test or perform confirmatory/reflex testing. In some situations, a minimum volume may require a second collection)
  • ​Whole blood must be received within 24 hours of collection
  • Keep at room temperature
  • Lysosomal Storage Disorder Card should be spotted with whole blood within 24 hours of collection
  • Once spotted, the Lysosomal Storage Disorder Card should be stored at -20°C or below if held for greater than 48 hours
Grounds for Rejection​

Testing Information​ ​

  • ​Monday to Friday 0800 – 1400 hours
Testing Site​
  • ​Referred out by St. Paul's Hospital Laboratory to Dynacare NEXT (Laval, QC)
​Results Reporting
  • ​Routine results within 10-12 days
  • ​Fluorometric Enzyme Assay
​Clinical Interpretation
  • Result interpretation should be correlated with clinical and other laboratory findings
​Additional Comments
  • This test can be used to aid in the diagnosis of Gaucher's disease (GD).
  • GD is another highly variable lysosomal storage disorder, and it has been divided into five subgroups: Type I, Type II. Type III, perinatal-lethal and cardiovascular. GD type I is the most common type. Patients typically present with anemia, thrombocytopenia, hepatosplenomegaly, fatigue, pulmonary disease, and bony problems (osteoporosis, lytic lesions and avascular necrosis). Patients usually do not have neurologic abnomalities,and cognitive function is not affected
  • All forms of GD are caused by mutations in the GBA gene, which encodes beta glucosidase, the enzyme breaking down glucosylcerebroside. The enzyme deficiency leads to accumulation of glycosylcerbroside afffecting mononuclear phagocytosis and resulting in the presence of "Gaucher cells"
​Alternate Test Names
  • ​Gaucher’s Disease
  • GBA deficiency
  • Glucocerebrosidase
  • Acid beta-glucosidase
​SHR LIS Test Code
  • ​GLUSB (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-382 v3

Last Modified: Thursday, September 12, 2019 |
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