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Are there tests to confirm the doctor's diagnosis of gaucher's disease?

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Dr. Marilynn Frederiksen
Obstetrics & Gynecology - Maternal Fetal Medicine

In brief: 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.

In brief: 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.
Dr. Marilynn Frederiksen
Dr. Marilynn Frederiksen
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