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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Otorhinolaryngologic Diseases
Exploring the genetic factors involved in otorhinolaryngologic diseases, which affect the ear, nose, and throat, can lead to a better understanding of these conditions and their underlying mechanisms. Genomic research can aid in early detection, […]
Respiratory Tract Diseases
Investigating the genetic factors associated with respiratory tract diseases can provide valuable insights into the development and progression of these conditions affecting the lungs and airways. Genomic research can contribute to early detection, prevention, and […]
Recommended Newborn Screening Panels
Newborn screening panels aim to identify genetic disorders early in life , allowing for timely intervention and improved health outcomes. The use of genomics in newborn screening can facilitate the detection of a broad range […]