--- Query Results ---

  
Program:Genetics and Genomics
 
Test Name:Galactose-1-Phosphate Uridyltransferase (G&G South ACH)
Test Code:G1PUT
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:Test performed on a biweekly basis.
TAT:14 days
 
Preferred Tube/Container:Sodium Heparin (dark green top)
Alternate:Lithium heparin (dark green - NOT PST)
 
Specimen Requirements:Collect 1 x 4.0 mL sodium heparin tube (or alternate tube type).
 
Min. Sample Required:3.0 mL whole blood
 
Specimen Processing:Do NOT centrifuge. Do NOT aliquot. Do NOT freeze.

Place whole blood sample on ice.
 
Specimen Handling:Transport sample on ice (not frozen). Ensure tube is not in direct contact with ice pack so specimen does not freeze.

For ACH Rapid Response Lab (RRL) Specimen Receiving Only: Please call ACH Biochemical Genetics Lab (403-955-7379) upon sample receipt for sample pick-up.
 
Additional Information:It is recommended that patients go to ACH OP lab for specimen collection.

Patients should arrive before noon on weekdays to ensure that the ACH Biochemical Genetics Lab receives the specimen before 14:00.

Samples will be rejected if:
  • Not refrigerated
  • Not received in primary collection tube
  • Any sample other than heparinized whole blood is submitted
  •  
    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.

    For Alberta-born patients: Samples received for Galactose-1-Phosphate Uridyltransferase testing will be further investigated to determine if a newborn screen result is available.

    For Alberta-born patients with no available newborn screen result and for non-Alberta-born patients a bloodspot card will be sent to the University of Alberta Newborn Metabolic Screen & Biochemical Genetics Lab for a Galactosemia Screen.

    For monitoring known galactosemic patients on dietary therapy, please order Galactose-1-Phosphate, Quantitative.
     
    Indications:This test is for the investigation of classic galactosemia (i.e., galactose-1-phosphate uridyltransferase deficiency) in a patient based on clinical presentation.
    Method:Galactose-1-phosphate uridyltransferase activity is measured spectrophotometrically.
    Method Details:Three enzymatic reactions are involved. In the first, endogenous galactose-1-phosphate uridyltransferase (G1PUT) in the RBC lysate catalyzes the reaction between galactose-1-phosphate (G1P) and Uridine-5’-diphosphoglucose (UDPG) to produce glucose-1-phoshate. Two additional reactions are performed in which an increase in absorption of NADPH at 340nm is directly proportional to the glucose-1-phosphate derived from the catalytic activity of G1PUT in the sample.
     
    Reference Interval:
    Galactose-1-Phosphate Uridyltransferase    15.7 – 25.3   units/g protein
     
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
     
     
    Last Updated On:Wednesday, July 31, 2019
    Date of Last Review:Jan 2 2018 12:00AM