Ordering Recommendation

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

New York DOH Approval Status

This test is New York state approved.

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

Methodology

Quantitative Fluorometry

Performed

Mon

Reported

3-10 days

Reference Interval

4.6 - 12.0 nmol hydrolyzed/hr/mg protein

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

82657

Components

Component Test Code* Component Chart Name LOINC
2014460 Gaucher GBA Activity Leukocytes Interp 48767-8
2014461 Gaucher GBA Activity Leukocytes 32540-7
* 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
Gaucher Disease (GBA), Enzyme Activity in Leukocytes