Diagnosis of Gaucher disease
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Not recommended for carrier detection; instead order GAUW / Gaucher Disease, Mutation Analysis, GBA.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
> or =4.85 nmol/min/mg protein
This enzyme is deficient in Gaucher disease.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Leukocytes are the preferred specimen for the diagnosis of Gaucher disease.
Carrier testing using this assay is not reliable. To determine carrier status, order GAUW / Gaucher Disease, Mutation Analysis, GBA.
Interfering factors include lack of viable cells, bacterial contamination, failure to transport tissue in an appropriate media, excessive transport time, and exposure of the specimen to temperature extremes (freezing or >30 degrees C).
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Martins AM, Valadares ER, Porta G, et al: Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009 Oct;155(4 Suppl):S10-S18
2. Beulter E, Grabowski GA: Gaucher disease. In The Metabolic and Molecular Basis of Inherited Disease. Vol 3. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill, 2001, pp 3635-3656
3. Pastores GM, Hughes DA: Gaucher disease. In GeneReviews. Seattle: University of Washington, Seattle; 1993. Edited by RA Pagon, TD Bird, CR Dolan, et al. Updated 2013 Sep 19]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/