Since the discovery that a mutation in the AKT1 gene causes Proteus, patients and families have the option to unergo genetic testing to confirm the diagnosis. A huge benefit to having genetic testing is that it can now help both doctors and patients to be sure that people are managed correctly and that the diagnosis is correct. Additionally, in order to participate in the MOSAIC clinical trial, patients must have previously undergone genetic testing to confirm they have the mutation.
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Genetic Testing is available to test for the AKT1 mutation. Please email Kim Green for further information.