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Test ID BGA 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.

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 Name

Fluorometric

Reporting Name

Beta-Galactosidase, Leukocytes

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. 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

Reference Values

≥1.56 nmol/min/mg

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Assay performed: Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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.

Report Available

2 to 8 days

NY State Approved

Yes

Disease States

  • Galactosialidosis

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.