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Biotinidase

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: 7 days
Specimen type

Plasma or Serum

Specimen requirements

0.5 mL 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
Canada
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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