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Xcelom Limited (Global)
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Building a Targeted LRS Panel for Newborn CAH Screening
How Long-Read Sequencing resolves the CYP21A2-TNXB highly homologous pseudogene challenge and enhances first-tier screening. Introduction: The Evolution of Newborn Screening Compared to traditional biochemical assays, Genetic Newborn Screening (NBS) offers a distinct advantage: clearer results, reduced unnecessary follow-up, and the ability to detect conditions that lack early-stage biochemical markers. Thanks to advancements in sequencing technology, laboratories can now sc
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