Cost 
$1,500.00
TAT 
4-6 weeks
CPT Code 
81407
Test Code 
2139
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

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 Deletion/Duplication panel includes deletion/cuplication analysis of the following 6 genes: INS, GCK, PDX1, EIF2Ak3, ZFP57, FOXP3.

Please use our endocrinology requisition form to order this testing.