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Order Code LABGOR, BGA Beta-Galactosidase, Leukocytes

Additional Codes

Mayo Test Code: BGA

Reporting Name

Beta-Galactosidase, Leukocytes

Useful For

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis

 

This test is not suitable for carrier detection.

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 Monday through Thursday only 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 referral 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 May;32[3]:443-450; Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H: Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik. 1974 July 15;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.