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October 12, 2025International Journal of Neonatal ScreeningOpen Access

Analytical Validation of a Genomic Newborn Screening Workflow

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Authors

KHKristine HovhannesyanLHLaura HelouBCBenoît Charloteaux

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Overview

Analytical validation shows that gene panel sequencing improves newborn screening for treatable conditions, addressing limitations in current practices.

Key Points

  • Gene panel sequencing enhances newborn screening accuracy by detecting treatable conditions missed by conventional methods.
  • The analytical validation achieved high reliability with strict quality control, assessing sensitivity and precision across over 5900 samples.
  • Automation of DNA extraction significantly improved scalability, ensuring a consistent workflow for newborn screening.
  • Focusing on pathogenic variants minimized false positives, enhancing the clinical actionability of the newborn screening program.

Cite This Study

Hovhannesyan et al. (2025) studied this question.

synapsesocial.com/papers/68ebffcfdef9fcb308ff23b5https://doi.org/10.3390/ijns11040091
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