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Updated: Jan 10, 2026

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在新生儿疾病的查和确认测试中使用多重复合,高通量DNA技术:范围审查

Terence Diane Fabella1,2,3, Joery den Hoed3, Lidewij Henneman1,2

  • 1Department of Human Genetics, Amsterdam UMC, Location Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.

International journal of neonatal screening
|November 24, 2025
PubMed
概括

新生儿查 (NBS) 正在推进基于DNA的技术,如下一代测序 (NGS),以更广泛地检测疾病. 使用NGS和生物化学测试的综合方法似乎是改善NBS程序的最佳方法.

关键词:
基于DNA的技术是基于DNA的.马萨拉雷 (MassARRAY) 是一个新生儿查 新生儿查这是下一代测序.qPCRR 是一个很好的方法.有针对性的测序.整体外基因组测序的测序进行全基因组测序.

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Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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