Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.
Clissold, Rhian L.
Hattersley, Andrew T.
Research Support, Non-U.S. Gov't
RightsArchived with thanks to Nephron
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Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predictive value (NPV) of 99%. We aimed at testing the clinical utility of this score in a large number of referrals for HNF1B genetic testing to the UK diagnostic testing service for the HNF1B gene.