Endocrine Abstracts

Background: Establishing a genetic diagnosis in patients presenting with potential monogenic endocrine disorders can provide benefits for the individual and wider family. Next-generation sequencing (NGS) gene panels provide a time- and cost-efficient platform for testing. A Scottish NGS endocrine testing platform, comprising 30 genes (11 individual panels), was established in 2018. A national genomic test-directory provides eligibility criteria for testing, bu...