Malignant hyperthymia testing with NGS

We conducted a retrospective, single-center study to assess the impact of PGx testing during routine clinical practice at the LPUH Clinical Pharmacogenetics Unit. The malignant hyperthymia testing was performed by analyzing the coding regions of the RYR1 and CACNA1S genes by a massive sequencing panel (NGS). RYR1 and CACN1S genes are only analyzed in patients who have presented an event clinically compatible with malignant hyperthermia.

本研究为回顾性单中心研究，旨在评估LPUH临床药物遗传学单元开展的药物基因组学（Pharmacogenomics, PGx）检测在常规临床实践中的应用效果。针对临床表型符合恶性高热（Malignant Hyperthermia, MH）的患者，本研究采用下一代测序（Next-Generation Sequencing, NGS）技术构建的大规模测序组套，对RYR1与CACNA1S基因的编码区进行测序分析，以开展恶性高热相关检测。