Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
Test Code: 451780
Performing Lab: LabCorp
CPT Code: 84155 001 82963 001
Synonym
Gaucher Enzyme Analysis
Specimen Type
Whole Blood
Specimen Container
Adult: Two 10 mL lavender-top (EDTA) tubes. Pediatric: One lavender-top (EDTA) tube.
Volume
10 mL
Unacceptable Conditions
Gross hemolysis; frozen sample; past viability window; unable to isolate white blood cells
Temperature
Refrigerate after collection. Transport to the testing laboratory using cool packs. Do NOT allow the sample to freeze. Time-sensitive; specimens must be received within four days of collection; please collect/ship Monday through Thursday ONLY.
Methodology
Glucocerebrosidase (leukocyte) is measured by fluorometric enzyme assay using 4-methylumbelliferyl-beta-D-glucosida as substrate, with/without glucocerebrosidase-specific inhibitor.
| Result Code | Result Name | LOINC |
|---|---|---|
| 451982 | Ethnicity | 42784-9 |
| 450164 | Patient History | 11329-0 |
| 450165 | Family History | 8670-2 |
| 450166 | Indication | 42349-1 |
| 451983 | Mutation Analysis | UNLOINC |
| 451988 | Glucocerebrosidase/WBC | 35303-7 |
| 451119 | Interpretation | 77202-0 |
| 450171 | Comments | 49549-9 |
| 451120 | Director | 72486-4 |
| 451984 | Disclaimer: | 62364-5 |
| 450173 | Gaucher Enzyme Analysis PDF | 50398-7 |
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