From False Positives to Accurate Diagnosis: Digital PCR Technology Reshapes the New Paradigm in SMA Genetic Testing

Recently, Professor Xiangdong Kong’s team from The First Affiliated Hospital of Zhengzhou University published an important research finding in the prestigious journal Orphanet Journal of Rare Diseases. This study provides a comprehensive gene analysis of 680 suspected SMA (Spinal Muscular Atrophy) families, marking it as the largest SMA genetic diagnostic study globally. The findings provide crucial insights for the diagnosis and treatment of this rare disease.

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