A CALL FOR REFORM

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CHROMOSOMAL MICROARRAY VS. WHOLE EXOME SEQUENCING

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“𝓜𝓲𝓬𝓻𝓸𝓪𝓻𝓻𝓪𝔂𝓼 𝓱𝓮𝓵𝓹 𝓾𝓼 𝓯𝓲𝓷𝓭 𝓶𝓲𝓼𝓼𝓲𝓷𝓰 𝓸𝓻 𝓮𝔁𝓽𝓻𝓪 𝓬𝓱𝓻𝓸𝓶𝓸𝓼𝓸𝓶𝓪𝓵 𝓹𝓲𝓮𝓬𝓮𝓼; 𝓦𝓔𝓢 𝓽𝓪𝓴𝓮𝓼 𝓾𝓼 𝓭𝓮𝓮𝓹𝓮𝓻, 𝓲𝓷𝓽𝓸 𝓽𝓱𝓮 𝓬𝓸𝓭𝓲𝓷𝓰 𝓻𝓮𝓰𝓲𝓸𝓷𝓼 𝔀𝓱𝓮𝓻𝓮 𝓻𝓪𝓻𝓮 𝓿𝓪𝓻𝓲𝓪𝓷𝓽𝓼 𝓱𝓲𝓭𝓮.” — Ellen Matloff 🧬 Chromosomal Microarray (CMA) and Whole Exome Sequencing (WES) are cornerstones of modern genomic diagnostics. Each offers unique insights: CMA identifies large-scale structural changes like copy number variations (CNVs), while WES investigates the exome; the protein-coding portion where most pathogenic mutations reside. 🔹 CMA is a first-line tool for neurodevelopmental disorders, intellectual disability, and congenital anomalies. It scans for chromosomal imbalances missed by karyotyping, offering ~15–20% diagnostic yield in such cases. Its speed and cost-effectiveness make it a go-to for initial evaluations. 🔹 WES, by contrast, dives into the exonic 1–2% of the genome that harbors ~85% of known disease-causing ...
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