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Test Code GBAW Beta-Glucosidase, Leukocytes

Important Note

SAMPLE ONLY HAS 6 DAYS STABILITY TO REACH MAYO LABORATORIES. Do not collect specimen on Fridays through Sundays, eve of public holidays and public holidays. 

Additional Codes

Epic Ordering Code LAB3041913
NBS code LBC11774
Service code 37105

Reporting Name

Beta-Glucosidase, Leukocytes

Specimen Type

Whole Blood ACD


Ordering Guidance


This test is preferred for diagnostic testing but does not reliably detect carriers. For carrier detection, order GBA / Gaucher Disease, GBA1 Gene Sequencing with Deletion/Duplication, Varies). 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. 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.



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.


National University Hospital-Singapore Note:

Specimen type: Whole blood
Container type: Lavender top (EDTA)
Volume : 6 mL

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.

Specimen Minimum Volume

4 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Testing Algorithm

For additional information see Newborn Screen Follow-up for Gaucher Disease

 

If the patient has abnormal newborn screening results for Gaucher disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Testing performed: Monday, Thursday

Report Available

2 to 5 days
National University Hospital-Singapore Note:

Please note that this is a referral test requiring transport to the external testing facility and an additional 3-5 days is required.

Reference Values

≥2.88 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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Diagnosis of Gaucher disease

 

This test is not intended for carrier detection.

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

Secondary ID

606273

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.
National University Hospital-Singapore Additional Information:

Last updated  07/07/2026