The University of Chicago Genetic Services is a leader in providing clinical genetic testing, and we are pleased to announce we are expanding our testing menu for neonatal diabetes!

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. Although the majority of cases of neonatal diabetes involve isolated diabetes, many of the known monogenic causes are characterized by a variety of syndromic features.

The most common cause of transient neonatal diabetes is overexpression of imprinted genes PLAGL1 and HYMAI at 6q24, due to either paternal uniparental disomy of chromosome 6 (UPD6), duplication of 6q24 on the paternally inherited allele, or hypomethylation of the maternally inherited allele. Other rarer causes of TNDM include mutations in ABCC8, KCNJ11, ZFP57 and INS. Permanent neonatal diabetes is most frequently caused by mutations in ABCC8, KCNJ11, or INS. Other rare causes include mutations in GCK and PDX1. Mutations in EIF2AK3 and FOXP3 are associated with multisystem disorders of which neonatal diabetes may be a feature.

New testing options now available for neonatal diabetes include our Comprehensive Neonatal Diabetes Mutation Analysis, which includes 6q24 methylation-specific MLPA (MS-MLPA), and sequence analysis of the following 8 genes: ABCC8, KCNJ11, INS, GCK, PDX1, EIF2AK3, FOXP3, and ZPF57. MS-MLPA will detect copy number variations and methylation abnormalities in the 6q24 region. 6q24 MS-MLPA for transient neonatal diabetes is also now available as a stand-alone test.

Please refer to our website or contact us for more information.