- Diabetes Genes
- Tests for Diabetes Subtypes
- Guidelines for Genetic Testing in MODY
Guidelines for Genetic Testing in MODY
Diagnostic testing for maturity-onset diabetes of the young (MODY) should be performed where it is going to change clinical management. This is likely to be in cases where there is uncertainty either in the diagnosis or in how a patient should be treated. As with any other laboratory test it is important that there is selection on clinical grounds to make the test appropriate. These are guidelines to the situations where we think testing would be helpful.
Clinicians are advised to read the latest ISPAD Clinical Practice Consensus Guidelines for monogenic diabetes which provide recommendations for identifying patients that should be referred for monogenic diabetes testing (Hattersley et al 2018 Pediatr Diabetes 19: 47-63, available at https://doi.org/10.1111/pedi.12772).
Children and young adults with mild hyperglycaemia: testing for glucokinase gene mutations
Gestational diabetes: testing for glucokinase gene mutations
Children and young adults with diabetes and a strong family history of diabetes: testing for hepatocyte nuclear factor 1A (HNF1A) gene mutations
Children and young adults with diabetes and a strong family history of diabetes: testing for hepatocyte nuclear factor 4A (HNF4A) gene mutations