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Test Catalogue


Metabolic Diseases Laboratory

​ ​Ordering Recommendation

  • ​ ​Prior consultation with a metabolic specialist is recommended, call RUH MDL at 655 – 1082 for confirmation

Specimen Requirements​ ​

  • ​Whole blood
​Required Volume
  • Optimal Volume: 3 mL whole blood
  • Minimum Volume: 1 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)
  • Capillary Volume: may be collected on a PKU card, send card to RUH MDL

  • ​Whole blood:
    • 5 days at 2 – 8 °C
  • PKU Card:
    • 1 month at room temperature
Grounds for Rejection​

Testing Information​ ​

  • ​Monday to Friday 0800 – 1600 hours
Testing Site​
  • ​SDCL
​Results Reporting
  • ​7 days
  • ​Available upon request
​Clinical Interpretation
  • ​Available upon request
​Specimen Retention
  • ​Available upon request
​Alternate Test Names
  • ​Biotinidase deficiency
​SHR LIS Test Code
  • ​BIO (For Laboratory Use Only)

Testing Ordering Requirements​ ​

​Preferred Specimen Collection
  • ​RUH Selective Test Centre
Forms Required

Patient History​ ​

​Relevant Clinical History
  • ​Family history

​If you choose to print this information, it is valid only on date of print.

Laboratory Controlled Document LSM-385

Last Modified: Wednesday, February 3, 2016 |
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