Gaucher Disease Enzyme Analysis (Glucocerebrosidase)

CPT: 82963; 84155
Print Share

Test Details

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.

Methodology

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

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

Clinical Information

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451780 Gaucher Enzyme Analysis 451982 Ethnicity Pending
451780 Gaucher Enzyme Analysis 450164 Patient History 11329-0
451780 Gaucher Enzyme Analysis 450165 Family History 8670-2
451780 Gaucher Enzyme Analysis 450166 Indication 42349-1
451780 Gaucher Enzyme Analysis 451983 Mutation Analysis Pending
451780 Gaucher Enzyme Analysis 451988 Glucocerebrosidase/WBC Pending
451780 Gaucher Enzyme Analysis 451119 Interpretation 51968-6
451780 Gaucher Enzyme Analysis 450171 Comments 8251-1
451780 Gaucher Enzyme Analysis 451120 Director 72486-4
451780 Gaucher Enzyme Analysis 451984 Disclaimer: N/A
451780 Gaucher Enzyme Analysis 450173 Gaucher Enzyme Analysis PDF 50398-7
451780 Gaucher Enzyme Analysis 451784 Gaucher Enzyme Analysis N/A

For Providers

Please login to order a test.

 

© 2017  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf