細胞核型分析：NGS測序法
（NGS測序技術）可檢測23對染色體的數(shù)目異常、1 mb堿基拷貝數(shù)變異，異常細胞比例。
分析說明：
本方法采用高通量測序技術對送檢樣品進行低深度全基因組檢測。先將DNA打斷成150bp左右的片段，再進行全基因組建庫和擴增，用高通量測序平臺進行全基因組測序分析。在進行reads數(shù)統(tǒng)計和GC矯正等數(shù)據(jù)處理之后，以一組正常女性樣品為參考組，采用Z值分析法統(tǒng)計送檢樣品的各個基因組窗口（bin）的Z值，從而實現(xiàn)拷貝數(shù)變異的檢測。
參考文獻：
Leary, RJ, et al. Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci Transl Med. 2012, 4(162): 162ra154.
Chiu RWK, Cantor CR, Lo YMD. Non-invasive prenatal diagnosis by single molecule counting technologies. Trends Genet 2009;25:324 –31.
Koboldt DC et al., 2013. The Next-Generation Sequencing Revolution and Its Impact on Genomics. Cell. 2013 September 26; 155(1): 27–38.
Chiu RWK, Chan KCA, Gao Y, Lau VYM, Zheng W, et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proceedings of the National Academy of Sciences 105: 20458–20463.
Heitzer E, Auer M, Hoffmann EM, Pichler M, Gasch C, Ulz P, et al. . Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer. Int J Cancer. (2013) 133:346–56.
細胞核型分析：G顯帶。
