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A member asked:
Are there tests to confirm the doctor's diagnosis of gaucher's disease?
A doctor has provided 1 answer
Gaucher's disease: Gaucher's is a genetic disease affecting the way in which glucosylceramide is metabolized. There are 3 forms of the disease: type i is adult or chronic; type ii is infantile, and type iii is juvenile form. Type i is seen in the ashkenazi jewish population. Type ii is a fulminant disease appearing in infancy. Type iii is only seen in swedish populations. There is genetic testing for the disease.
Answered 7/20/2012
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