Genetic testing and screening in children

ASEM 文献综述

Official Canadian Paediatric Society document (2022) on “Genetic testing and screening in children”. Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility t.

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