--- Query Results --- | ||||
Program: | Genetics and Genomics | |||
Test Name: | Beta-Galactosidase, T-lymphocyte (G&G South ACH) | |||
Test Code: | B-GAL | |||
Performing Site: | Alberta Children's Hospital | |||
Performing Dept: | Biochemical Genetics | |||
Availability: | Test is performed on a monthly basis. | |||
TAT: | 45 days | |||
Preferred Tube/Container: | Sodium heparin (dark green - NOT PST) | |||
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 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 14:00 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: | |||
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 beta-galactosidase deficiency leading to either Morquio B Syndrome (a.k.a., mucopolysaccharidosis type VI) or GM1 Gangliosidosis (a.k.a., Landing disease) - lysosomal storage disorders. | |||
Method: | Beta-Galactosidase 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 purposes of lysosomal enzyme testing. | |||
Reference Interval: |
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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 | |||