Maturity-onset diabetes of the young (MODY) and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction. Genetic defects in the pancreatic beta cells result in the decrease of insulin production required for glucose utilization thereby leading to very high blood sugar levels. MODY is inherited in an autosomal dominant manner and cases can also arise de-novo (for the first time) in the affected individual.
The Igenomix Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel can be used to make a directed and accurate differential diagnosis of neonatal and paediatric hyperglycemia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix MODY and Neonatal Diabetes Mellitus Precision Panel is indicated for those patients with clinical suspicion of diabetes presenting with the following manifestations:
- Diabetes under the age of 35
- Family history
- Frequent urination
- Blurry vision
- Recurrent skin infections
- Recurrent yeast infections
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for early insulin therapy, dietary modifications, and primary prevention to reduce comorbidities associated with diabetes.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
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Firdous, P., Nissar, K., Ali, S., Ganai, B. A., Shabir, U., Hassan, T., & Masoodi, S. R. (2018). Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives. Frontiers in endocrinology, 9, 253. https://doi.org/10.3389/fendo.2018.00253
Anık, A., Çatlı, G., Abacı, A., & Böber, E. (2015). Maturity-onset diabetes of the young (MODY): an update. Journal of pediatric endocrinology & metabolism : JPEM, 28(3-4), 251–263. https://doi.org/10.1515/jpem-2014-0384
Valkovicova, T., Skopkova, M., Stanik, J., & Gasperikova, D. (2019). Novel insights into genetics and clinics of the HNF1A-MODY. Endocrine regulations, 53(2), 110–134. https://doi.org/10.2478/enr-2019-0013