Heparan N Sulfatase, Whole Blood (Referred Out) - Saskatoon
Discipline
Biochemistry
Overview
Description
- Collection only available on Monday to Wednesday morning 0800-1200 hours
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
- MPS IIIA
- Mucopolysaccharidosis Type IIIA
Specimen Information
Specimen types accepted
- Whole Blood
Specimen collection container
- Preferred collection container: Dark Green (Lithium Heparin) 4.0mL
- Alternative collection container: Dark Green (Sodium Heparin) 4.0mL
Required volume
- Optimal volume: Two full 4 mL collection tubes
- Minimum/pediatric volume: 5 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.)
Transport and stability
- Whole blood must be sent to lab without delay.
- Collect and keep at room temperature.
- Ship whole blood at room temperature to referral laboratory.
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
- Spectrophotometric/ Fluorometric Enzyme Assay
Days/times performed
Availability |
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Testing site |
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Maximum laboratory time
- 2 week turnaround time by referral laboratory
Other information
Additional comments
- This test is useful for the identification of mucopolysaccharidosis Type IIIA (MPS III; also known as Sanfilippo syndrome).
- MPS III includes four subtypes: 1) MPS IIIA is the most severe form, caused by the deficiency of heparan-N-Sulfatase; 2) MPS IIIB caused by the deficiency of alpha-N-acetylglucosaminidase; 3) MPS IIIC caused by the deficiency of glucosamine-N-acetyltransferase; 4) MPS IIID caused by the deficiency of N-acetylglucosamine-6-sulfatase.
- The four subtypes of MPS III cannot be distinguished clinically; the enzyme testing can be used as a 1st tier test to aid in the diagnosis of MPS III.
Last Updated: October 9, 2024