评估一种用于状细胞疾病新生儿查的新串联质谱法
Céline Renoux1,2,3,4, Estelle Roland5, Séverine Ruet1
1Laboratoire de Biologie Médicale Multi-Sites (LBMMS), Service de Biochimie et Biologie Moléculaire Grand Est, Hospices Civils de Lyon, 69500 Bron, France.
International journal of neonatal screening
|December 27, 2024
概括
一个新的双重质谱 (MS/MS) 套件显示了状细胞疾病新生儿查 (SCD NBS) 的高精度. 这种方法对于现有MS/MS技术的实验室是有效的,支持SCD NBS的更广泛实施.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 在法国,状细胞病新生儿查 (SCD NBS) 正在扩大.
- 在全球范围内,Tandem质谱 (MS/MS) 在SCD NBS中未得到充分利用.
- 现有的确认方法包括MALDI-TOF和CE-HPLC.
研究的目的:
- 评估一个专门的MS/MS套件用于SCD NBS.
- 将MS/MS结果与已知方法 (MALDI-TOF和CE-HPLC) 进行比较.
- 评估MS/MS套件对SCD NBS的敏感性和特异性.
主要方法:
- 在Waters Xevo TQ-D系统上使用了针对性MS/MS血红包.
- 使用制造商提供的软件分析信号比率.
- 将MS/MS结果与参考中心的MALDI-TOF和CE-HPLC进行比较.
主要成果:
- 测试了1333个样本,其中1324个样本在各种方法中显示一致的结果.
- 通过调整信号比值来识别和纠正不一致的结果.
- 在值调整后,SCD NBS的灵敏度和特异性接近100%.
结论:
- 在MS/MS Hemo套件是SCD NBS的有效工具.
- 这种方法特别适用于现有MS/MS基础设施的实验室.
- 建议在具有更多阳性病例的大型队列中进一步验证.
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