Acid Sphingomyelinase, Dried Blood Spot (Referred Out) - Saskatoon
Discipline
Biochemistry
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
- Niemann-Pick A or B
Specimen Information
Specimen types accepted
- Whole blood
Specimen collection container
- Preferred collection container: Dark Green (Lithium Heparin) 4.0 mL
- Alternative collection containers:
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
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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 information
- Results should be interpreted in the context of clinical findings and other laboratory data.
Performance
Methodology
- Ultra-performance liquid chromatography and tandem mass spectrometry (UPLC-MS/MS)
Days/times performed
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Maximum laboratory time
- 2 week turnaround time by referral laboratory
Other information
- The Neonatal Screen card will be spotted when whole blood received in the lab.
- Sphingomyelinase is responsible for breakdown of sphingomyelin
- Acid sphingomyelinases deficiency has been classified into two categories: Niemann-Pick Type A (neuronopathic) and Niemann-Pick Type B (non-neuronopathatic)
- Acid sphingomyelinase enzyme activity is commonly used as the first line test for Niemann-Pick A/B disease
- Diagnosis of Niemann-Pick A/B is made by demonstrating acid sphingomyelinase deficiency
Last Updated: September 27, 2024