--- Query Results ---

Program:Genetics and Genomics
Test Name:Alpha-Glucosidase, T-lymphocyte (G&G South ACH)
Test Code:A-GLU-T
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
Availability:Test is performed on a monthly basis.
TAT:30 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 mL whole blood
Specimen Processing:Do NOT centrifuge. Do NOT aliquot. Do NOT refrigerate or freeze.

If the sample needs to be stored following draw, store whole blood in original tube on benchtop at room temperature. Primary tube must remain at room temperature at all times.
Specimen Handling:If not collected at ACH, transport whole blood to ACH at room temperature.
All samples SHOULD arrive before 14:00h and have been collected NO LONGER than 48 hours prior to arrival.
Additional Information:It is recommended that patients go to ACH OP Lab for specimen collection.
The 3.0 mL of whole blood will be sufficient to test for multiple lysosomal enzymes in T-lymphocytes, if requested.

Samples will be rejected if:
  • Primary tube not kept at room temperature
  • Any aliquot tube is received.
  • Any sample other than 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.
    Requests for testing should be supported by a high index of clinical suspicion specific to the disorder in question.
    Indications:For the investigation of Pompe disease (a.k.a., alpha-glucosidase deficiency, acid maltase deficiency, glycogen storage disease type II, glycogenosis type II) - a lysosomal storage disorder.
    Method:Alpha-Glucosidase activity is measured fluorometrically using a 4-methylumbelliferyl-linked substrate.
    Method Details:This procedure involves the establishment of an IL-2 stimulated T-lymphocyte culture and storage of cell pellets for the purpose of lysosomal enzyme testing.

    Residual enzyme activity below 15% of the mean of the reference range cannot be reliably detected by this assay. Type and age of onset of symptoms as well as additional diagnostic testing may be needed to confirm severity of disease present.
    Reference Interval:
    alpha-Glucosidase    33 - 91   nmol/hour/mg protein
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
    Last Updated On:Friday, June 29, 2018
    Date of Last Review:Jan 2 2018 12:00AM