Alberta Precision Laboratories

--- Query Results ---

Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Alpha-Glucosidase, T-cell (Synonym: Pompe, Glycogen storage disease type II, Acid maltase deficiency, Lysosomal Enzymes Panel)

Clinical 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.

Test Includes:

Alpha-Glucosidase activity

Ordering Alert:

For those sites that routinely refer tests to Edmonton zone labs, refer to Alpha-glucosidase, Dried Blood Spot.

Connect Care Users: Order Lysosomal Enzymes (LAB4043), then select the enzyme(s) to be tested. If ordering through Requisition Entry, order the individual enzyme.

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.

Shipping and Handling Alert:

Specimen must be received by a specific time. See Transportation section for details.

LABID (Connect Care):

LAB9917

Test Code:

CALGARY ZONE	BGLBL; IN BGL TEST NAME FIELD ENTER AGLU
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Blood

Primary Container:

Green Top – NAHEP (no gel)

Alternate Containers:

Green Top - LIHEP (no gel)

Minimum Collection Volume:

3.0 mL whole blood

Specimen Collection Requirements:

Collect one Sodium Heparin (or alternate) tube.

Note: 3.0 mL of whole blood will be sufficient to test for multiple lysosomal enzymes in T-cells, if requested.

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Room temperature

Processing:

Do NOT centrifuge.
Do NOT aliquot.
Do NOT refrigerate or freeze.

Transportation:

Transport whole blood at room temperature.

All specimens MUST arrive in lab by 14:00 and within 48 hours of time of collection Monday through Thursday.

If the specimen is collected on a Friday, the specimen MUST arrive in lab by 12:00 on same day of collection.

Method:

Fluorometric

Method and Interpretation of Results:

Alpha-Glucosidase activity is measured fluorometrically using a 4-methylumbelliferyl-linked substrate.

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 required to confirm severity of disease.

Routine Turn Around Time:

30 days

Testing Schedule:

Monthly

Reference Interval:

Enzyme Activity	Range	Units
alpha-Glucosidase	33 - 91	nmol/hour/mg protein

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children’s Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics South 403-955-7379

Last Updated On:

Monday, August 29, 2022

Date of Last Review:

Aug 1 2022 12:00AM