Since it has been confirmed that a mutation to the AKT1 gene causes Proteus syndrome, it is now possible for physicians to confirm the diagnosis through genetic testing. In addition to helping physicians better determine a course of treatment, a demonstrated mutation in the AKT1 gene is required for patients to be eligible to participate in ArQule’s clinical trial of miransertib for the treatment of Proteus syndrome. Physicians should encourage patients to be genetically tested. 
 
For more details on how to access genetic testing for the AKT1 gene, please email Kim Green.