--- Query Results ---

  
Program:Genetics and Genomics
 
Test Name:Biotinidase (G&G South ACH)
Test Code:BIOT-S, BIOT-P
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:Test performed on a biweekly basis.
TAT:21 days
 
Preferred Tube/Container:Non-additive (red top - NOT SST)
Alternate:Sodium heparin (dark green - NOT PST)
Lithium heparin (dark green - NOT PST)
 
Specimen Requirements:Collect 1 x 4.0 mL SST tube (or alternate tube type).
 
Min. Sample Required:0.5 mL serum or plasma
 
Specimen Processing:At ACH only
The primary heparinized tube can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 8:30 am – 2:30 pm, Monday through Friday.

For all other collections
1. Centrifuge.
2. Transfer plasma or serum to aliquot tube.
3. Write "NaHep", "LiHep" or "Red Top" on the aliquot tube label.
4. Freeze.
 
Specimen Handling:Transport frozen samples on ice. Samples must not thaw during transport.
 
Additional Information:Samples will be rejected if:
  • Primary tube not refrigerated
  • Aliquot tube received thawed
  • Tube type not written on aliquot tube label
  •  
    Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
     
    Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.
     
    Indications:This test is for the diagnosis of biotinidase deficiency based on clinical presentation or as a confirmatory test for screen positive newborns.
    Screening of all newborns for biotinidase deficiency is done as part of Newborn Metabolic Screen.
    Method:Biotinidase activity is measured based on the amount of lysine liberated from the biocytin substrate using an amino acid analyzer.
    Method Details:Partial deficiency or carriers may have activity at the low end of the reference interval.
    Prematurity can lead to decreased enzymatic activity within the first days to weeks of life, and chronic liver dysfunction can also lead to decreased activity.
     
    Reference Interval:
    Serum/Plasma Biotinidase    3.5 – 13.5   nmol/min/ml plasma
     
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
     
     
    Last Updated On:Monday, March 26, 2018
    Date of Last Review:Jan 2 2018 12:00AM