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.
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