Workflow of combined biomarker and genetic newborn screening. (IMAGE)
Caption
Workflow of combined biomarker and genetic newborn screening. This schematic illustrates the integrated framework for neonatal combined screening, linking disease and gene selection with standardized operational procedures. The workflow includes informed consent, dried blood spot collection, parallel biomarker analysis and targeted next-generation sequencing, dual result interpretation, and confirmatory testing for positive cases. By synchronizing biochemical and genomic data, the system aims to improve diagnostic accuracy, accelerate clinical decision-making, and enable timely intervention during the critical early neonatal period.
Credit
World Journal of Pediatrics
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Credit must be given to the creator.
License
CC BY