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

Clissold, Rhian L.; Shields, Beverley; Ellard, Sian; Hattersley, Andrew T.; Bingham, Coralie

URI

http://hdl.handle.net/11287/618112

Author

Clissold, Rhian L.

Shields, Beverley

Ellard, Sian

Hattersley, Andrew T.

Bingham, Coralie

Date

2015-05-22

Journal

Nephron

Type

Journal Article
Research Support, Non-U.S. Gov't

Publisher

Karger

DOI

10.1159/000398819

Rights

Archived with thanks to Nephron

Metadata

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Abstract

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.

Citation

Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. 2015, 130 (2):134-40 Nephron

Publisher URL

http://www.karger.com/?DOI=10.1159/000398819

Note

This article is freely available from the publisher's site - click on the 'Additional Link' above to access the full text.