Laboratory Medicine ›› 2024, Vol. 39 ›› Issue (2): 103-106.DOI: 10.3969/j.issn.1673-8640.2024.02.001
Received:
2024-01-09
Revised:
2024-02-05
Online:
2024-02-28
Published:
2024-03-26
Contact:
YU Yongguo
CLC Number:
JING Mengxia, YU Yongguo. Clinical application of different molecular detection techniques in children's rare genetic diseases[J]. Laboratory Medicine, 2024, 39(2): 103-106.
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URL: https://www.shjyyx.com/EN/10.3969/j.issn.1673-8640.2024.02.001
方法 | CNV | SV | mtDNA变异 | SNV | |
---|---|---|---|---|---|
编码区 | 非编码区 | ||||
染色体核型分析 | 大片段 | 是 | 否 | 否 | 否 |
FISH | 是 | 是 | 否 | 否 | 否 |
CMA | 是 | 否 | 否 | 否 | 否 |
Sanger测序 | 否 | 否 | 是 | 是 | 是 |
Panel测序 | 有限① | 否 | 可测② | 是 | 可测② |
WES | 有限① | 否 | 可测② | 是 | 否 |
WGS | 是 | 是 | 是 | 是 | 是 |
方法 | CNV | SV | mtDNA变异 | SNV | |
---|---|---|---|---|---|
编码区 | 非编码区 | ||||
染色体核型分析 | 大片段 | 是 | 否 | 否 | 否 |
FISH | 是 | 是 | 否 | 否 | 否 |
CMA | 是 | 否 | 否 | 否 | 否 |
Sanger测序 | 否 | 否 | 是 | 是 | 是 |
Panel测序 | 有限① | 否 | 可测② | 是 | 可测② |
WES | 有限① | 否 | 可测② | 是 | 否 |
WGS | 是 | 是 | 是 | 是 | 是 |
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