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Genomics Precision Diagnostic > Endocrinology > Endocrinology Maturity Onset Diabetes of the Young and Neonatal Diabetes

Maturity Onset Diabetes of the Young and Neonatal Diabetes

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.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • 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.  

Indication

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  
  • Thirst  
  • Dehydration  
  • Blurry vision  
  • Recurrent skin infections  
  • Recurrent yeast infections  

Clinical Utility

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. 

Genes & Diseases

Methodology

References

See scientific referrals

Urakami T. (2019). Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes, metabolic syndrome and obesity : targets and therapy, 12, 1047–1056. https://doi.org/10.2147/DMSO.S179793 

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 

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      • Infertility Panels
      • EMBRACE
      • PGT-A
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