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Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
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.
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
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.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451780||Gaucher Enzyme Analysis||451982||Ethnicity||42787-9|
|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||N/A|
|451780||Gaucher Enzyme Analysis||451988||Glucocerebrosidase/WBC||35303-7|
|451780||Gaucher Enzyme Analysis||451119||Interpretation||77202-0|
|451780||Gaucher Enzyme Analysis||450171||Comments||49549-9|
|451780||Gaucher Enzyme Analysis||451120||Director||72486-4|
|451780||Gaucher Enzyme Analysis||451984||Disclaimer:||42364-5|
|451780||Gaucher Enzyme Analysis||450173||Gaucher Enzyme Analysis PDF||50398-7|