Clinical application of different molecular detection techniques in children's rare genetic diseases

doi:10.3969/j.issn.1673-8640.2024.02.001

Abstract

Abstract:

In the recent years，with the development of molecular detection techniques，the detection rate of rare gentic diseases in children has increased. According to the extent of chromosome affected，genetic variations can be classified into 4 categories：chromosome-level variation，sub-chromosome-level variation，small-scale-level variation and special type variation. It is crucial for different genetic variattions to choose the appropriate detection method. In this review，4 types of genetic variattions and their corresponding molecular detection techniques are summarized. The application of molecular detection techniques in the diagnosis and treatment of rare genetic diseases in children should be combined with the family actual situation and detection accuracy. Related guidelines or expert consensus should be issued to promote the clinical application of molecular detection techniques in children.

Key words: Rare disease, Genetic disease, Children, Molecular detection, Genetic variation

CLC Number:

R446.7

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.

Figures/Tables 1

References 21

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方法	CNV	SV	mtDNA变异	SNV
方法	CNV	SV	mtDNA变异	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
方法	CNV	SV	mtDNA变异	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