The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Neonatal Diabetes and Maturity-Onset Diabetes of the Young

Neonatal Diabetes Mellitus (NDM) is diabetes diagnosed within the first 6 months of life and can be characterized as either permanent (PNDM), requiring lifelong treatment, or transient (TNDM), which typically resolves by 18 months of age. NDM is rare with an incidence of approximately 1:1,000,000-260,000 live births.

Maturity-onset diabetes of the young (MODY) is more common than NDM and usually first occurs in children or adolescents but may be mild and not detected until adulthood. It is predicted that MODY accounts for approximately 1-2% of all type 2 Diabetes caes with an incidence of approximately 100 cases per million in the UK population.

Our New Neonatal Diabetes/MODY Syndrome Sequencing Panel* includes sequencing of the 27 genes listed: GCK, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, GATA6, PTF1A, RFX6, ZFP57, GLIS3, EIF2AK3, NEUROG3, INSR, SLC2A2, IER3IP1, WFS1, CISD2, HADH, GLUD1, CP, FOXP3, AKT2

Comprehensive sequence coverage of the coding regions and splice junctions of all genes in this panel will be performed.  Targets of interests will be captured and amplified using Agilent HaloPlex target enrichment system.  The constructed genomic DNA library will be sequenced using Illumina technology and reads will be aligned to the reference sequence.  Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.  All novel and/or potentially pathogenic variants will be confirmed by Sanger sequencing.  The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20bp.


*The most common MODY genes - HNF1A, HNF4A, HNF1B- are not currently available for testing in this panel. The tests for these genes are exclusively licensed to Athena Diagnostics.