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Gaucher Disease Enzyme Analysis (Glucocerebrosidase)

CPT 82963; 84155

Test Details

Methodology

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

Result Turnaround Time

3 - 13 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

Use

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.

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.

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Container

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

LOINC® Map

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
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451982
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code450164
Result Code NamePatient History
UofM
Result LOINC11329-0
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code450165
Result Code NameFamily History
UofM
Result LOINC8670-2
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code450166
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451983
Result Code NameMutation Analysis
UofM
Result LOINCN/A
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451988
Result Code NameGlucocerebrosidase/WBC
UofM
Result LOINC35303-7
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451119
Result Code NameInterpretation
UofM
Result LOINC77202-0
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code450171
Result Code NameComments
UofM
Result LOINC49549-9
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451120
Result Code NameDirector
UofM
Result LOINC72486-4
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code451984
Result Code NameDisclaimer:
UofM
Result LOINC62364-5
Order Code451780
Order Code NameGaucher Enzyme Analysis
Order Loinc35303-7
Result Code450173
Result Code NameGaucher Enzyme Analysis PDF
UofM
Result LOINC50398-7