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Alternate test name

Biotinidase Deficiency

Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
Activity measured spectrophotometrically using N-biotinyl-p-aminobenzoate substrate.
Expected turn-around time
Routine: 3 weeks Newborn screen samples: 3 days
Specimen type

Plasma or serum

Specimen requirements

200 µL of plasma (Green Top Sodium or Lithium Heparin Tube) or serum (Red Top Serum Tube).

Storage and transportation
  • Store at -20°C and transport frozen on dry ice.
Special requirements
  • Separate and freeze within 1 hour of collection.
Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

Diagnosis of Biotinidase deficiency

Disease condition

Biotinidase Deficiency

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