Spinal muscular atrophy (SMA) is one of the most common genetic disorders worldwide, and genetic testing plays a key role in its diagnosis and prevention. The last decade has seen a continuous flow of new methods for SMA genetic testing that, along with traditional approaches, have affected clinical practice patterns to some degree. Targeting different application scenarios and selecting the appropriate technique for genetic testing have become priorities for optimizing the clinical pathway for SMA. In this review, we summarize the latest technological innovations in genetic testing for SMA, including MassArray®, digital PCR (dPCR), next-generation sequencing (NGS), and third-generation sequencing (TGS). Implementation recommendations for rationally choosing different technical strategies in the tertiary prevention of SMA are also explored.

中文翻译：

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脊髓性肌萎缩症基因检测的最新进展


脊髓性肌萎缩症（SMA）是世界范围内最常见的遗传性疾病之一，基因检测在其诊断和预防中发挥着关键作用。过去十年，SMA 基因检测新方法不断涌现，这些方法与传统方法一起在一定程度上影响了临床实践模式。针对不同的应用场景，选择合适的基因检测技术，成为优化SMA临床路径的重点。在这篇综述中，我们总结了 SMA 基因检测的最新技术创新，包括 MassArray®、数字 PCR (dPCR)、二代测序 (NGS) 和三代测序 (TGS)。探讨了SMA三级预防中合理选择不同技术策略的实施建议。