Abstract
Genetic testing can improve the diagnosis of rare genetic diseases of obesity and identify patients who may benefit from targeted therapeutic intervention. For example, patients with genetic defects in the melanocortin 4 (MC4R) pathway may present with severe early-onset obesity and hyperphagia. Historically, however, genetic testing in patients with obesity has been limited. The Uncovering Rare Obesity diagnostic genetic testing program aims to enhance access to genetic testing for these patients.
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