The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
De Franco, E.
Houghton, J. A. L.
Lango Allen, H.
Mackay, D. J. G.
Temple, I. K.
Hattersley, Andrew T.
Research Support, Non-U.S. Gov't
RightsArchived with thanks to Lancet (London, England)
MetadataShow full item record
Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.