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HelpOrder Code LABGOR, BGA Beta-Galactosidase, Leukocytes
Additional Codes
Mayo Test Code: BGA
Reporting Name
Beta-Galactosidase, LeukocytesPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole Blood ACDShipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.
Necessary Information
Provide a reason for testing with each specimen.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Specimen Minimum Volume
5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days | YELLOW TOP/ACD |
| Ambient | 6 days | YELLOW TOP/ACD |
Special Instructions
Reference Values
≥1.56 nmol/min/mg
Day(s) Performed
Preanalytical processing: Monday through Friday, Sunday
Assay performed: Tuesday
CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BGA | Beta-Galactosidase, Leukocytes | 24061-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 8486 | Beta-Galactosidase, Leukocytes | 24061-4 |
| 34979 | Interpretation (BGA) | 59462-2 |
| 34907 | Reviewed By | 18771-6 |
Genetics Test Information
Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.
Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome type B.
A diagnosis of galactosialidosis must be additionally demonstrated by a deficiency of neuraminidase.
Method Description
The deficiency of beta-galactosidase is demonstrable using the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside. The enzyme hydrolyzes the artificial substrate to produce 4-methylumbelliferone, which is measured fluorometrically.(Ho MW, O'Brien JS. Differential effect of chloride ions on galactosidase isoenzymes: a method for separate assay. Clin Chim Acta. 1971;32[3]:443-450; Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H. Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik. 1974;23[2]:149-158. doi:10.1007/BF00282212; Cowan T, Pasquali M. Laboratory Investigations of Inborn Errors of Metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)
Reject Due To
| Gross hemolysis | Reject |
Method Name
Fluorometric
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Testing Algorithm
For information see Lysosomal Disorders Diagnostic Algorithm, Part 1.
Useful For
Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis
This test is not suitable for carrier detection.