Diabetes Genes

Targeted Next Generation Sequencing

Analysis of 71 Monogenic Diabetes Genes

The Exeter Molecular Genetics Laboratory offers a customised, targeted next generation sequencing capture assay for variant analysis of 71 known/putative monogenic diabetes genes and 6 mitochondrial DNA (mtDNA) variants associated with diabetes.  Analysis of a sub-set of genes is performed for paediatric and early adult onset diabetes (including MODY and insulin resistance disorders), neonatal diabetes and autoimmune forms of neonatal diabetes.

For patients with paediatric and early adult onset diabetes a panel of 39 genes is sequenced that includes 11 MODY genes (ABCC8, APPL1, GCKHNF1A, HNF4AINSKCNJ11, NEUROD1, PDX1, RFX6 and ZFP57), 19 genes where diabetes occurs as part of a syndrome (CEL, CISD2, DCAF17, DNAJC3, DUT, DYRK1B, GATA4, GATA6, HNF1B, MANF, MAFA, PAX6, PCBD1, PIK3R1, PPP1R15B, SLC29A3, TRMT10A, WFS1, ZBTB20), 9 genes where pathogenic variants cause diabetes through severe insulin resistance with or without partial lipodystrophy (AKT2, CIDECINSR, LIPE, LMNA, PLIN1, POLD1, PPARG and ZMPSTE24) and the mtDNA variants m.3243A>G, m.8344A>G, m.12258C>A, m.12271T>C, m.14684C>T and m.14709T>C causing mitochondrial diabetes.

A panel of 35 genes is sequenced for patients diagnosed with neonatal diabetes under the age of 6 months (ABCC8, AGPAT2, BSCL2, CISD2, CNOT1, COQ2, COQ9, EIF2B1, EIF2S3, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, IL2RA, INS, INSR, KCNJ11, LPL, LRBA, MNX1, NEUROD1, NEUROG3, NKX2-2, PDX1, PTF1A (coding and distal enhancer regions), RFX6, SLC19A2, SLC2A2, STAT3, WFS1 and ZFP57) and a panel of 15 genes is sequenced for patients with neonatal diabetes and autoimmune disease (AIRECTLA4, DOCK8, FOXP3, IL2RA, ITCH, JAK1, LRBA, NFKB1, SIRT1, SLC29A3, STAT1, STAT3, STAT5B and TNFAIP3).