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Genetic Testing for Hereditary Hemorrhagic Telangiectasia

This report examines the clinical utility of genetic testing for hereditary hemorrhagic telangiectasia (HHT) in pediatric and adult patients who are symptomatic for HHT and/or have a family history of HHT. The evidence for the use of genetic testing is evaluated in symptomatic and asymptomatic individuals with a family history of HHT, with respect to medical management, testing at-risk family members, and confirmation of diagnosis.

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