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Alpha-Mannosidase, Blood (Referred Out) - Saskatoon

Discipline

Biochemistry

Overview

Description

Test Ordering Requirements

Forms required

Alias

  • Mannosidosis

Specimen Information

Specimen types accepted

  • Whole blood

Specimen collection container

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 & shipped to referral laboratory at ambient temperature.

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

  • Liquid chromatography - tandem mass spectrometry

Days/times performed

Availability​
  • Monday to Thursday, 8:00 a.m. to 2:00 p.m.
Testing site​
  • Referred out by St. Paul's Hospital Laboratory to Greenwood Genetic Center

Maximum laboratory time

  • 2 week turnaround time by referral laboratory

Other information

Additional comments

  • To evaluate alpha-mannosidosis; a lysosomal storage disorder
  • Requests for testing should be supported by a high index of suspicion specific to the disorder, and/or by the results of an abnormal urine oligosaccharides screen and evidence from other relevant testing
  • The Neonatal Screen Card will be spotted when whole blood received in the lab. Alpha-mannosidase enzyme activity is determined using dried blood spots

Last Updated: October 3, 2024