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. Approximately half of the NDM cases are transient (TNDM) but can ultimately relapse. In contrast, permanent NDM (PNDM) cases need continual treatment from diagnosis. NDM cases diagnosed before 6 months of age are usually autoantibody negative and have human leukocyte antigen (HLA) types similar to the general population, rather than HLA types known to be associated with type 1 diabetes that are found in those diagnosed at older ages.
The Comprehensive Neonatal Diabetes Mutation Analysis test includes sequence and deletion/duplication analysis of over 30 nuclear genes associated with neonatal diabetes, analysis for mitochondrial mutations m.3243A>G, m.8296A>G, m.14709T>C associated with diabetes and deafness, and methylation-specific MLPA to assess the imprinted genes at 6q24, the most common cause of transient neonatal diabetes.
