Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.
Author
Clissold, Rhian L.
Shields, Beverley
Ellard, Sian
Hattersley, Andrew T.
Bingham, Coralie
Date
2015-05-22Journal
NephronType
Journal ArticleResearch Support, Non-U.S. Gov't
Publisher
KargerDOI
10.1159/000398819Rights
Archived with thanks to NephronMetadata
Show full item recordAbstract
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.