Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Lango Allen, H.
De Franco, Elisa
Houghton, J. A. L.
Hattersley, Andrew T.
Weedon, M. N.
Caswell, Richard C.
TypeResearch Support, Non-U.S. Gov't
RightsArchived with thanks to Diabetologia
MetadataShow full item record
Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.