Diabetes Genes

A new test for all MODY genes

New DNA sequencing technology allows us to test for pathogenic variants in all the genes known to cause diabetes diagnosed outside of the neonatal period in a single test rather than analysing just one or two genes at a time. This targeted next generation sequencing test simultaneously analyses 41 genes in which pathogenic variants have been reported to cause MODY or another monogenic form of young-onset diabetes such as MIDD (maternally inherited diabetes and deafness) or partial lipodystrophy. Testing for pathogenic variants in multiple genes increases the number of patients in whom a monogenic form of diabetes is identified (Ellard et al 2013 Diabetologia 56: 1958-1963 http://link.springer.com/article/10.1007%2Fs00125-013-2962-5).

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