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Health Library

Wilson Disease

Wilson disease is a rare genetic disorder that is passed from parents to children (inherited). It prevents your body from getting rid of extra copper in your system.
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Health Library

Types of Genetic Testing

Chromosome studies may be performed when a child is born with multiple birth defects. They may also be done when people have certain types of leukemias and lymphomas, to look for specific chromosome rearrangements associated with these types of cancers. Direct DNA studies look directly at the gene in question for an error.
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Health Library

Gaucher Disease

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs, such as your spleen and liver.
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