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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


Ordering Guidance


This test is preferred for diagnostic testing but does not reliably detect carriers. For carrier detection, order GBAZ / Gaucher Disease, Full Gene Analysis, Varies or CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies (specify GBA Gene List ID IEMCP-M4F13T). Call 800-533-1710 to discuss testing options.



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.



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 whole blood original tube. Do not aliquot.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

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) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Monday, Wednesday

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 US 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. Daykin EC, Ryan E, Sidransky E: Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002

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 June 21, 2018. Accessed March 1, 2022. 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, beta-glucocerebrosidase, acid alpha-glucosidase, alpha-galactosidase, galactocerebrosidase and alpha-L-iduronidase. The sample is then purified by liquid-liquid extraction. The extract is evaporated and reconstituted before analysis by tandem mass spectrometry.(Unpublished Mayo method)

Report Available

5 to 9 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:

-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.

Secondary ID

606273