Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

ABSTRACT:

Background/aims

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.

Methods

An HNF1B score was assigned for 686 UK referrals for HNF1B genetic testing using clinical information available at referral. The performance of the score was evaluated by receiver-operating characteristic curve analysis. The relative discriminatory ability of different clinical featu

SUBMITTER: Clissold R 

PROVIDER: S-EPMC4822678 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature