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Gaucher Disease (GBA), Enzyme Activity in Leukocytes
2014459
Ordering Recommendation

Use to diagnose Gaucher disease only; not indicated for carrier screening.

Mnemonic
GBA ENZYME
Methodology
Quantitative Fluorometry
Performed
Varies
Reported
3-10 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Yellow (ACD), Lavender (K2EDTA), Lavender (K3EDTA), or Green (Sodium Heparin). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated 
Unacceptable Conditions
Grossly hemolyzed specimens. 
Remarks
Additional information is required: Clinical Indication for testing. 
Stability
Ambient: Unacceptable; Refrigerated: 3 days; Frozen: Unacceptable 
Reference Interval
4.6 - 12.0 nmol hydrolyzed/hr/mg protein
Interpretive Data
Refer to report.

Components
Component Test Code*Component Chart NameLOINC
2014460Gaucher GBA Activity Leukocytes Interp48767-8
2014461Gaucher GBA Activity Leukocytes32540-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Gaucher
  • GBA
  • glucocerebrosidase
  • glucosidase