Monogenic diabetes mellitus includes a heterogeneous group of diabetes types that are caused by mutations in single genes. It is estimated that the monogenic forms of diabetes could represent as much as 1–2% of all cases of diabetes mellitus. The main phenotypes suggestive of an underlying monogenic cause include neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young (MODY) and very rare diabetes-associated syndromes.
Neonatal Diabetes Mellitus (NDM) is diabetes diagnosed within the first 6 months of life and can be characterized as either permanent (PNDM), requiring lifelong treatment, or transient (TNDM), which typically resolves by 18 months of age. NDM is rare with an incidence of approximately 1:1,000,000-260,000 live births.
Maturity-onset diabetes of the young (MODY) is more common than NDM and usually first occurs in children or adolescents but may be mild and not detected until adulthood. It is predicted that MODY accounts for approximately 1-2% of all type 2 Diabetes caes with an incidence of approximately 100 cases per million in the UK population.
Approximately thirty genes that are highly expressed in the pancreatic beta-cell have been identified in these monogenic subtypes of diabetes, and many other genes have been implicated in syndromes that often include diabetes. Several etiological mechanisms of beta-cell dysfunction are involved including reduced beta-cell number, failure of glucose sensing and increased destruction of the beta-cell, which result in inadequate insulin secretion despite chronic hyperglycemia.
Our Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Sequencing Panel includes sequence analysis of the following 30 genes: ABCC8, AKT2, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, IER3IP1, INS, INSR, KCNJ11, KLF11, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1, ZFP57.
Any gene in the Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
Please use our endocrinology requisition form to order this testing.