细胞核型分析：NGS测序法
（NGS测序技术）可检测23对染色体的数目异常、1 mb碱基拷贝数变异，异常细胞比例。
分析说明：
本方法采用高通量测序技术对送检样品进行低深度全基因组检测。先将DNA打断成150bp左右的片段，再进行全基因组建库和扩增，用高通量测序平台进行全基因组测序分析。在进行reads数统计和GC矫正等数据处理之后，以一组正常女性样品为参考组，采用Z值分析法统计送检样品的各个基因组窗口（bin）的Z值，从而实现拷贝数变异的检测。
参考文献：
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