Neonatal diabetes mellitus (NDM) is defined by insulin-requiring diabetes diagnosed in the first 6 months of life. 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. NDM is a relatively rare disorder that affects approximately 1:215,000 to 1:260,000 live births. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. NDM can be either permanent (PNDM) requiring lifelong treatment or transient (TNDM). In transient NDM cases the diabetes spontaneously remits, relapse is common and usually occurs during adolescence. The majority of mutations causing PNDM are de novo in origin. Nearly half of all cases of PNDM are due to activating mutations in KCNJ11 and ABCC8; their diabetes can be remarkably well controlled by oral sulfonylureas tablets instead of injected insulin leading to improved glucose regulation, quality of life and lower costs of treatment. Not all cases of neonatal diabetes are responsive to sulfonylurea treatment, however, making a genetic diagnosis will have implications for other family members by correcting their diagnosis and treatment and allowing appropriate genetic counseling.
Our Neonatal Diabetes Sequencing Panel includes sequence analysis of the following 11 genes: ABCC8, EIF2AK3, FOXP3, GATA4, GCK, INS, KCNJ11, MNX1, NKX2-2, PDX1, and ZFP57.
Any gene in the Neonatal Diabetes 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.