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Genetic Testing for PTEN Hamartoma Tumor Syndrome (PHTS)

This report examines the clinical utility of PTEN genetic testing of patients at risk for, or diagnosed with, PTEN hamartoma tumor syndrome (PHTS) based upon clinical symptoms, with or without a family history suggestive of PHTS. The goal of this report is to assess how genetic testing of patients meeting this criteria changes patient management, informs treatment selection and/or prognosis, and impacts at-risk family members.

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