Gaucher Disease Enzyme Analysis (Glucocerebrosidase)

CPT: 82963; 84155
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Special Instructions

Specimens must arrive at testing laboratory within four days of collection. Collect Monday through Wednesday only. While enzyme testing is offered as a standalone test, it is strongly recommended that clients opt for both DNA and enzyme testing.

Expected Turnaround Time

3 - 13 days

Related Documents

Specimen Requirements


Whole blood


10 mL


Adult: Two 10-mL lavender-top (EDTA) tubes. Pediatric: One lavender-top (EDTA) tube.

Storage Instructions

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.

Causes for Rejection

Gross hemolysis; frozen sample; past viability window; unable to isolate white blood cells

Test Details


Gaucher disease occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of approximately 1 in 15. It is a lysosomal storage disorder with variable severity that, if untreated, may result in anemia, hepatosplenomegaly, nosebleeds, and fractures. In the more severe and rare form, the brain and nervous system are involved. Enzyme analysis is performed in individuals suspected of having the disease, who may need enzyme replacement therapy.


Glucocerebrosidase (leukocyte) is measured by fluorometric enzyme assay using 4-methylumbelliferyl-beta-D-glucosida as substrate, with/without glucocerebrosidase-specific inhibitor.


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451780 Gaucher Enzyme Analysis 35303-7 451982 Ethnicity 42784-9
451780 Gaucher Enzyme Analysis 35303-7 450164 Patient History 11329-0
451780 Gaucher Enzyme Analysis 35303-7 450165 Family History 8670-2
451780 Gaucher Enzyme Analysis 35303-7 450166 Indication 42349-1
451780 Gaucher Enzyme Analysis 35303-7 451983 Mutation Analysis n/a
451780 Gaucher Enzyme Analysis 35303-7 451988 Glucocerebrosidase/WBC 35303-7
451780 Gaucher Enzyme Analysis 35303-7 451119 Interpretation 77202-0
451780 Gaucher Enzyme Analysis 35303-7 450171 Comments 49549-9
451780 Gaucher Enzyme Analysis 35303-7 451120 Director 72486-4
451780 Gaucher Enzyme Analysis 35303-7 451984 Disclaimer: 62364-5
451780 Gaucher Enzyme Analysis 35303-7 450173 Gaucher Enzyme Analysis PDF 50398-7

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