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

      Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel

      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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          • What to do if…
        • Prevent Inherited Diseases
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          • NACE
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      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
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          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
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