Beta-Glucuronidase, Blood (Referred Out) - Saskatoon
Discipline
Biochemistry
Overview
Description
Test Ordering Requirements
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Requisitions must have specific test indicated
Forms required
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Miscellaneous Specimen Requisition Form #101878
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or SHR Laboratory Medicine Community Laboratory Requisition Form #101064
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or Acute Care Phlebotomy Requisition Form #101062
Alias
- Sly Syndrome (MPS V11)
- I – Cell (ML11)
Specimen Information
Specimen types accepted
- Whole blood
Specimen collection container
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Preferred collection container: Dark Green (Lithium Heparin) 4.0 mL
- Alternative collection container: Dark Green (Sodium Heparin) 4.0 mL or Lavender (EDTA) 4.0 mL
Required volume
- Optimal volume: 4 mL whole blood
- Minimum/pediatric volume: 1 mL whole blood
Transport and stability
- Whole blood must be received within 24 hours of collection
- Store whole blood at room temperature
- The Neonatal Screen card will be spotted when whole blood received in the lab.
- Neonatal Screen Card should be spotted with whole blood within 24 hours of collection.
- Once spotted, the Neonatal Screen Card should be allowed to dry for 3-4 hours & shipped to referral laboratory at ambient temperature.
Rejection criteria
- Specimens received where the proper collection protocols were not followed
- Pathology and Laboratory Medicine Acceptance and Rejection Criteria
Testing Information
Relevant clinical history
- Family history
- Must include diagnosis and/or patient symptoms on the requisition
Clinical interpretation
- Result interpretation should be correlated with clinical and other laboratory findings.
Performance
Methodology
- Quantifies levels of beta-glucuronidase via the 4-methylumbelliferyl substrate
Days/times performed
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Maximum laboratory time
- 2 week turnaround time by referral laboratory
Other information
Additional Comments
- 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.
Last Updated: October 4, 2024