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Test Code GBAW Beta-Glucosidase, Leukocytes

Reporting Name

Beta-Glucosidase, Leukocytes

Useful For

Diagnosis of Gaucher disease

 

This test is not intended for carrier detection.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood ACD


Advisory Information


This test is preferred for diagnostic testing; however results are not reflective of carrier status. For carrier detection; order GAUP / Gaucher Disease, Mutation Analysis, GBA, Varies or GBAZ / Gaucher Disease, Full Gene Analysis, Varies. Call 800-533-1710 to discuss testing options.



Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 96 hours 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.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 4 days
  Ambient  72 hours

Reference Values

≥3.53 nmol/hour/mg protein

An interpretative report will be provided.

Note: Results from this assay do not reflect carrier status because of individual variation of beta-glucosidase enzyme levels.

Day(s) and Time(s) Performed

Specimens are processed Monday through Sunday.

Assay is 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

82963

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GBAW Beta-Glucosidase, Leukocytes 32540-7

 

Result ID Test Result Name Result LOINC Value
606273 Beta-Glucosidase, Leukocytes 32540-7
606274 Interpretation 59462-2
606275 Reviewed By 18771-6

Clinical Reference

1. Martins AM, Valadares ER, Porta G, et al: Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr. 2009 Oct;155(4 Suppl):S10-S18

2. Grabowski GA, Petsko GA, Kolodny EH: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, et al. eds. Scriver's The Online Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Medical Division; 2014. Accessed 2/11/19. Available at www.ommbid.com

3. Pastores GM, Hughes DA: Gaucher disease. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews. [Internet] University of Washington, Seattle; 2000. Updated 6/21/18. Accessed 2/11/19. Available at www.ncbi.nlm.nih.gov/books/NBK1269/

4. Weinreb NJ, Andersson HC, Banikazemi M, et al: Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med. 2008 Feb;168:326-328

5. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using tandem mass spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309

Method Description

The specimens are incubated with a mix of substrate and internal standard for acid sphingomyelinase (ASM), beta-glucocerebrosidase (ABG), acid alpha-glucosidase (GAA), alpha-galactosidase (GLA), galactocerebrosidase (GALC) and alpha-L-iduronidase (IDUA). The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)

Analytic Time

5 days

Reject Due To

Gross hemolysis Reject

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry

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.

Secondary ID

606273