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HelpTest Code GBAW Beta-Glucosidase, Leukocytes
Reporting Name
Beta-Glucosidase, LeukocytesUseful For
Diagnosis of Gaucher disease
This test is not intended for carrier detection.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole Blood ACDAdvisory 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
Testing Algorithm
The following are available in Special Instructions:
-Newborn Screen Follow-up for Gaucher Disease
-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 4 days | |
| Ambient | 72 hours |
Special Instructions
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 daysReject 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.