Point of Care Testing, Rapid Next Generation Sequencing and Artificial Intelligence in Pediatric and Neonatal Healthcare: A Narrative Review

Laboratory tests play a crucial role in the diagnostic process for both adults and children. Indeed, they are essential for evaluating health status and formulating effective treatment strategies in the presence of disease. However, in the case of pediatrics, distinct physiological and developmental features of children should be taken into account when compared to adults. Consequently, it is necessary to consider some factors, such as reference intervals that vary significantly at different stages of development due to sexual development, cerebral maturation, and biological and environmental influences; furthermore, it must be considered that extremely small volumes of biological samples are often necessary to obtain accurate laboratory results. Finally, timely test results are critical, especially for pediatric conditions that are treatable when diagnosed early. This review article provides a comprehensive overview of advanced diagnostic technologies, including rapid next-generation sequencing and complex point-of-care testing, within the context of pediatric laboratory medicine. Special attention is given to diagnostic tools that support neonatal and pediatric intensive care units, with a focus on how innovative technologies, particularly those utilizing artificial intelligence algorithms, can accelerate diagnostic workflows.