CeGaT now provides a new Focused-Panel for the diagnosis of suspected MODY-(Maturity Onset Diabetes of the Young) syndrome.
MODY is an autosomal dominant form of diabetes caused by large-effect mutations in the MODY associated genes. Intrinsic β-cell defects and malfunction of insulin secretion or glucose metabolism are key features of disease. It is estimated that about 2-5% ¹ of all diabetes cases are caused by monogenic mutations within MODY associated genes, and are therefore part of the MODY spectrum. However, MODY can be misclassified as type 1 or type 2 diabetes, often leading to inadequate therapy choices.
Diagnostic analysis of MODY should be considered in children or adolescents after ruling out type 1 diabetes, due to an absence of islet cell autoantibodies, or when a family history of diabetes exists. Additionally, about 2% of diagnosed gestational diabetes cases are misclassified MODY ², therefore we also recommend MODY Focused-Panel analysis in these cases.
The CeGaT Focused-Panel includes fast and parallel sequencing of 12 genes associated with MODY. The detection of disease causing genetic alteration is the only way to verify the diagnosis of MODY and to clarify an appropriate therapeutic approach.
The new panel is now available. Our diagnostics support team is available at +49 7071 565 44 55 or firstname.lastname@example.org.
¹ Valerie M Schwitzgebel; JDI 2014; Many faces of monogenic diabetes
² S3-Leitlinie der Fachgesellschaften DDG und DGGG zum Gestationsdiabetes