Category: Gaucher Disease Diagnosis

Gaucher and Other Rare Genetic Disease Diagnosis

The Gaucher disease diagnostic journey can be long, but new diagnostic aids offer hope for a faster, more accurate process.

Gaucher Disease Screening vs. Testing

Gaucher disease affects up to 6,000 people living in the United States. This rare disorder results from certain genetic mutations that occur on the GBA1 gene. In fact, more than 400 possible mutations can be present on this gene, and while some are more common than others, all can lead to the development of Gaucher… Read More »

Can Gaucher Disease Carriers Have Symptoms?

The National Gaucher Foundation has received several inquiries from people identified as carriers who are experiencing Gaucher disease (pronounced go-SHAY) symptoms. Many people are curious about whether or not Gaucher disease carriers can have symptoms. The short answer is no, but it is possible that some people were misdiagnosed. This post explores how Gaucher disease… Read More »

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