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Newly published: The Pulse of Genetic Counselors 2025 report shares motivations and challenges from over 100 genetic counselors. Learn more

Metabolic disorders and newborn screening

Hundreds of existing inherited metabolic disorders can contribute to a patient’s inability to break down or produce particular molecules in the body during metabolism. Genetic testing for inherited metabolic disorders, also called inborn errors of metabolism (IEM), can inform potential management and treatment decisions and may identify clinical trial opportunities for your patients.