Article

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR Testing

2025-05-25

Abstract excerpt

Developmental disabilities and congenital anomalies are common pediatric conditions that often require extensive genetic testing to determine an underlying cause. Traditionally, chromosomal microarrays (CMA) and Fragile X testing have served as first-tier diagnostics, but these tests are limited in scope and often necessitate follow-up sequencing assays. Whole Genome Sequencing (WGS) offers a single, comprehensive...

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Literature Corpus work: 64f9cc9b-cfba-5535-b00e-0219e619137f
DOI: 10.1101/2025.05.24.25328260

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