This panel consists of 14 genes that have been associated with maturity-onset diabetes of the young (MODY) and some forms of familial hyperinsulinism. Maturity-onset diabetes of the young, or MODY, typically presents in adolescents or young adults under the age of 25. The features of this condition are atypical for both type 1 and type 2 diabetes mellitus as MODY is not usually associated with obesity, acanthosis nigricans, or hyperecholesterolemia, and response to insulin use for hyperglycemia is limited. MODY has an estimated prevalence of 1 in 10,000 adults with approximately 1-2% of all diabetics having this form. Patients with pathogenic variants in the HNF1A and HNF4A genes sometimes experience a worsening of hyperglycemia over time and may eventually require insulin for treatment. However, many individuals with MODY only require oral medications, while others have a stable level of hyperglycemia and may not need treatment at all.
MODY is inherited in an autosomal dominant pattern in the majority of cases, and familial hyperinsulinism often shows lower penetrance than MODY.
Confirmation of pathogenic variants can assist with accurate diagnosis and treatment as well as testing for other at-risk family members.