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Pathology and Laboratory Medicine
Test Catalogue

​Beta-Galactosidase, Dried Blood Spot

Chemistry


​ ​Ordering Recommendation

  • ​This test is quantitative enzyme activity, and the enzyme activity is measured using the dried blood spots

Specimen Requirements​ ​

Type​
  • ​Whole blood
​Container

​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)
​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 level of beta-galactosidase via the 4-methylumbelliferylsubstrate
​Clinical Interpretation
  • Results should be interpreted in the context of patient history, clinical findings and other laboratory data
​Additional Comments
  • ​The Neonatal Screen card will be spotted when whole blood received in the lab 
  • This test is useful to distinguish between Mucopolysaccharidosis (MPS) type IV A and B. 
  • MPS IV is also known as Morquio Syndrome MPS IVB is caused by deficiency of the enzyme beta-galactosidase encoded by the GLB1 gene location on chromosome 3p21.33; MPV IVA is caused by mutations in the GALNS gene on chromosome 16q24 that encodes on the enzyme N-acetylgalactosamine-6-sulfate (responsible for degradation of keratin sulfate and chondrotin-6-sulfate). Patients with MPSIVB have decreased affinity and catalytic activity of the enzyme for keratin sulfate with preservation of degradative activity for GM1 ganglioside
​Alternate Test Names
  • MPS IVB​
  • Morquio Syndrome
​SHR LIS Test Code
  • ​GALAB (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-381 v2

Last Modified: Tuesday, January 22, 2019 |
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