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 54 genes and 19 mtDNA loci in which pathogenic variants have been reported to cause MODY or diabetes as part of a monogenic syndrome such as MIDD (maternally inherited diabetes and deafness) or RCAD (renal cysts and diabetes syndrome). Testing for pathogenic variants in multiple genes increases the number of patients in whom a monogenic form of diabetes is identified and identifies patients with syndromic subtypes of monogenic diabetes where there is no clinical suspicion of the disorder (Colclough et al 2022 Diabetes 71: 530-537, PMID: 34789499 http://link.springer.com/article/10.1007%2Fs00125-013-2962-5).

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