#6 How is the disease diagnosed?

     The diagnosis is based on labratory testing and clinical symptoms. The diagnosis is suspected among individuals who have bone problems, bleed very easily, change in blood cells, and an enlarged liver or spleen. What the labratory testing does is takes blood samples to measure the activity of the enymes. If the enzmes are in high levels, then the person does not have gaucher disease. If the person has a unnormal low amount of enzyme levels then the person probably has gaucher disease. You can also diagnose it by a different process, this would be by DNA analysis of the GBA gene for mutations. You do not need to have a bonemarrow or liver biopsy to diagnose gaucher disease.


"Learning About Gaucher Disease." Genome.gov. Sept. 2010. Web. 12 Mar. 2011. <http://www.genome.gov/25521505>.