Arylsulfatase B, Blood ( Referred Out)- Saskatoon
Discipline
Overview
Description
Test Ordering Requirements
Forms required
-
Requisitions must have specific test indicated
-
Miscellaneous Specimen Requisition Form #101878 or
-
SHR Laboratory Medicine Community Laboratory Requisition Form #101064 or
-
Acute Care Phlebotomy Requisition Form #101062
Alias
- Maroteaux – Lamy Syndrome
Specimen Information
Specimen types accepted
- Whole blood
Specimen collection container
- Preferred collection container: Dark Green (Lithium Heparin) 4 mL
-
Alternative collection container: Dark Green (Sodium Heparin) 4 mL
-
Alternative collection container: Lavender (EDTA) 4 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
-
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 and 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
- Available upon request
Days/times performed
| Availability |
|
| Testing Site |
|
Maximum laboratory time
- 2 week turnaround time by referral laboratory
Other information
Additional comments
- 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 VI (MPS VI; also known as Maroteaux-Lamy syndrome)
-
MPS VI is an autosomal-recessive disorder caused by defects in the ARSB gene, which encodes arylsulfatase B (N-acetylgalactosamine-4-sulfatase). The deficiency or arylsulfatase B leads to accumulation of DS in the skin, cornea, cartilage and bones. Similar to other MPS disorders, the severity of MPS VI varies from mild to severe
Last Updated: October 3, 2024