Diagnostic genetic testing for monogenic diabetes and congenital hyperinsulinemia
Houghton, Jane A. L.
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Monogenic diabetes and hyperinsulinism are genetically heterogeneous disorders. The determination of the genetic etiology defines the diagnostic subtype, predicts prognosis, and importantly can guide clinical management. This chapter focuses on the processes and methodologies utilized in the diagnostic testing for monogenic diabetes and congenital hyperinsulinism (i.e., Sanger sequencing and targeted next-generation sequencing).