Neonatal diabetes mellitus (NDM) is a rare form of diabetes that is likely to have a monogenic cause, particularly when diagnosed before 6 months of age. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Approximately half of the NDM cases are transient (TNDM) but can ultimately relapse. In contrast, permanent NDM (PNDM) cases need continual treatment from diagnosis.
Our Comprehensive Neonatal Diabetes Mutation Analysis includes 6q24 methylation-specific MLPA, and sequence analysis of the following 11 genes: ABCC8, EIF2AK3, FOXP3, GATA4, GCK, INS, KCNJ11, MNX1, NKX2-2, PDX1, and ZFP57.
Please use our endocrinology requisition form to order this testing.