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Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

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BGL<br />

8788<br />

spots, and/or fibroblasts can confirm a diagnosis. A targeted mutation panel may allow for detection of<br />

disease-causing mutations in affected patients (GAUW/81235 Gaucher Disease, Mutation Analysis,<br />

GBA). In addition, full sequencing of the GBA gene allows for detection of disease-causing mutations<br />

in affected patients in whom a targeted mutation panel identifies only a single mutation. Treatment is<br />

available in the form of enzyme replacement therapy and/or substrate reduction therapy for types 1 and<br />

3. Individuals with type 3 may benefit from bone marrow transplantation. Currently, only supportive<br />

therapy is available for type 2.<br />

Useful For: Diagnosis of Gaucher disease<br />

Interpretation: Values

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