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Test Code GBAW Beta-Glucosidase, Leukocytes


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.


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

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)

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

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

Report Available

5 to 9 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82963