ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2017) 51 DP2.2 | DOI: 10.1530/endoabs.51.DP2.2

Aids to correct genetic diagnosis in MODY: being smarter with laboratory medicine

Timothy McDonald


Rarely does the diagnosis of diabetes go beyond the broad classification of type 1 or type 2 diabetes. This is usually based on simple clinical criteria such as BMI, age of diagnosis and presence of ketosis. We know that approximately 15% of patients are wrongly diagnosed and therefore receive suboptimal treatment. In addition, rarer monogenic forms of diabetes are present in as many as 3% of patients in the paediatric clinic and are often misdiagnosed as type 1 or type 2 diabetes. The correct diagnosis in this group is important as knowing the genetic cause indicates the most appropriate treatment. In this lecture we will explore the traditional and new technologies we have available to us to improve diagnosis in diabetes and how we can combine blood tests with clinical probability models to maximise diagnostic accuracy.

Article tools

My recent searches

No recent searches.