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Order Code LABGOR, BGA Beta-Galactosidase, Leukocytes

Additional Codes

Mayo Test Code: BGA

Reporting Name

Beta-Galactosidase, Leukocytes

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood ACD


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen only Monday through Thursday and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.



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

Reference Values

≥1.56 nmol/min/mg

Day(s) Performed

Preanalytical processing: Monday through Sunday

Assay performed: Tuesday

CPT Code Information

82657

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.