genetic discoveries

How do Genetic Discoveries Impact Pediatric Diagnostics?

Genetic discoveries have revolutionized pediatric diagnostics by enabling earlier and more accurate detection of genetic disorders. Techniques such as next-generation sequencing (NGS) and whole exome sequencing (WES) allow for comprehensive analysis of a child's genetic code. These technologies have been instrumental in diagnosing rare diseases, such as cystic fibrosis and Duchenne muscular dystrophy, often before symptoms appear.

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