The present invention discloses a kit for detecting Turner syndrome based on the MLPA-NGS method, and a method for using and application thereof, wherein the kit comprises a CNV probe for detecting the copy number of the
DNA position to which the probe binds, a SNP probe for giving the SNP
genotype of the hybridization position of the probe on the
DNA, and a universal primer with an index sequence for amplifying the connected probe; each pair of probes is provided with a
characteristic sequence for distinguishing, so as to analyze the number of reads of each probe for the sequencing result, thereby analyzing the SNP
typing, the sequencing quality of the sample, the parent-child relationship of the core family, the parental origin of the
X chromosome, the relative copy number of the
X chromosome, and the parental origin of the
X chromosome mosaic. The MLPA-NGS method of the above kit has a large amount of detection information, can achieve the effect of the SNP
chip for the copy number of the X
chromosome, can achieve the effect of the STR for the analysis of the parental origin of the X
chromosome, has high sensitivity, is easy to operate, and is convenient for large-scale promotion.