Biotinidase Quantitative, Blood (Referred out) - Saskatoon
Discipline
Biochemistry
Overview
Alias
- Biotin-amide amidohydrolase
- Biotinidase deficiency
Specimen Information
Specimen types accepted
- Serum
Specimen collection container
- Preferred Collection Container: Red (No Additive) 6.0mL
Collection procedure
- Collect on ice
- Centrifuge and aliquot serum within 1 hour of collection
- Send to SPH on an ice pack
- Freeze serum immediately upon receipt in lab
Required volume
- Optimal Volume: 6.0mL whole blood
- Minimum/Pediatric Volume: 1.0mL 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
- Store frozen serum at minimum -20°C or below
- Send to referral lab on dry ice
- Frozen specimens are stable for 30 days
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
- Spectrophotometry
Days/times performed
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Maximum laboratory time
- 12 weeks turnaround time by referral laboratory
Other information
- This test is used to confirm abnormal biotinidase enzyme activities for screen positive newborns
- Biotinidase activity level is reported
- Individuals with profound biotinidase deficiency contain less than 10% of normal biotinidase activity; individuals with partial biotinidase deficiency contain 10-30% of normal biotinidase activity. Most patients are responsive to biotin and develop normally if treated with biotin before symptoms occur
- 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 #10162
Last Updated: October 4, 2024