This page represents genomic investigations available for a diverse array of genetic conditions that affect infants and children from birth or shortly thereafter. By studying the genetics and genomics of these disorders, researchers can identify the underlying causes and develop targeted approaches to diagnosis, treatment, and prevention. This work may lead to improved health outcomes and quality of life for affected individuals and their families.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Recommended Newborn Screening Panels
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