Sign in →

Test Code BGA Beta-Galactosidase, Leukocytes

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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

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

Interpretation

Very-low enzyme activity levels are consistent with GM1 gangliosidosis and Morquio B disease. Clinical findings must be used to differentiate between those 2 diseases. The deficiency of beta-galactosidase combined with neuraminidase deficiency is characteristic of galactosialidosis.

Clinical Reference

1. Suzuki Y, Nanba E, Matsuda J, Higaki K, Oshima A: Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed March 01, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225547263

2. d'Azzo A, Andria G, Bonten E, Annunziata I: Galactosialidosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed March 01, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225547663

 

3. Caciotti A, Garman SC, Rivera-Colon Y, et al: GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011 Jul;1812(7):782-790. doi: 10.1016/j.bbadis.2011.03.018

4. Kingma SDK, Ceulemans B, Kenis S, Jonckheere AI: Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?. JIMD Rep. 2021 Mar;59(1):90-103. doi: 10.1002/jmd2.12204

Report Available

2 to 8 days

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.