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Test Code BGAW Beta-Galactosidase, Blood

Reporting Name

Beta-Galactosidase, B

Useful For

Diagnosis of GM1 gangliosidosis,  Morquio syndrome B, and galactosialidosis in whole blood specimens

 

This test is not useful for carrier detection.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Additional Testing Requirements


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 (NEURF / Neuraminidase, Fibroblasts).



Necessary Information


Provide a reason for referral with each specimen.



Specimen Required


Container/Tube: 

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL


Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 7 days
  Refrigerated  7 days

Reference Values

≥5.0 nmol/hour/mL

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

Test Classification

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

CPT Code Information

82657

Specimen Minimum Volume

0.5 mL

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BGAW Beta-Galactosidase, B 16454-1

 

Result ID Test Result Name Result LOINC Value
60987 Beta-Galactosidase, B 16454-1
34428 Interpretation 69047-9
34427 Reason for Referral 42349-1
34432 Reviewed By 18771-6

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Method Name

Fluorometric Enzyme Assay

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Testing Algorithm

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.