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href=\"https:\/\/med-net.com\/article\/%e5%9f%ba%e5%9b%a0%e6%aa%a2%e6%b8%ac%e6%98%af%e4%bb%80%e9%ba%bc%ef%bc%9f%e4%b8%8a%e7%8f%ad%e6%97%8f%e5%bf%85%e6%87%82%e7%9a%84%e5%81%a5%e5%ba%b7%e9%a2%a8%e9%9a%aa%e3%80%81%e9%a0%90%e9%98%b2%e6%80%a7.html\/#%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%E6%8E%A1%E9%9B%86%E6%96%B9%E5%BC%8F%EF%BC%9A%E6%9C%80%E5%B8%B8%E8%A6%8B%E7%9A%84%E4%B8%89%E7%A8%AE%E6%AA%A2%E9%AB%94\" title=\"\u57fa\u56e0\u6aa2\u6e2c\u63a1\u96c6\u65b9\u5f0f\uff1a\u6700\u5e38\u898b\u7684\u4e09\u7a2e\u6aa2\u9ad4\">\u57fa\u56e0\u6aa2\u6e2c\u63a1\u96c6\u65b9\u5f0f\uff1a\u6700\u5e38\u898b\u7684\u4e09\u7a2e\u6aa2\u9ad4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/med-net.com\/article\/%e5%9f%ba%e5%9b%a0%e6%aa%a2%e6%b8%ac%e6%98%af%e4%bb%80%e9%ba%bc%ef%bc%9f%e4%b8%8a%e7%8f%ad%e6%97%8f%e5%bf%85%e6%87%82%e7%9a%84%e5%81%a5%e5%ba%b7%e9%a2%a8%e9%9a%aa%e3%80%81%e9%a0%90%e9%98%b2%e6%80%a7.html\/#%E7%B5%90%E8%AA%9E%EF%BC%9A%E5%9F%BA%E5%9B%A0%E4%B8%8D%E6%9C%83%E6%94%B9%E8%AE%8A%EF%BC%8C%E4%BD%86%E4%BD%A0%E5%8F%AF%E4%BB%A5%E6%94%B9%E8%AE%8A%E5%81%A5%E5%BA%B7%E8%B5%B0%E5%90%91\" title=\"\u7d50\u8a9e\uff1a\u57fa\u56e0\u4e0d\u6703\u6539\u8b8a\uff0c\u4f46\u4f60\u53ef\u4ee5\u6539\u8b8a\u5065\u5eb7\u8d70\u5411\">\u7d50\u8a9e\uff1a\u57fa\u56e0\u4e0d\u6703\u6539\u8b8a\uff0c\u4f46\u4f60\u53ef\u4ee5\u6539\u8b8a\u5065\u5eb7\u8d70\u5411<\/a><\/li><\/ul><\/nav><\/div>\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%E6%98%AF%E4%BB%80%E9%BA%BC%EF%BC%9F%E7%9C%8B%E6%87%82%E4%BD%A0%E7%9A%84%E3%80%8C%E5%81%A5%E5%BA%B7%E4%BD%BF%E7%94%A8%E8%AA%AA%E6%98%8E%E6%9B%B8%E3%80%8D\"><\/span><strong>\u57fa\u56e0\u6aa2\u6e2c\u662f\u4ec0\u9ebc\uff1f\u770b\u61c2\u4f60\u7684\u300c\u5065\u5eb7\u4f7f\u7528\u8aaa\u660e\u66f8\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u57fa\u56e0\u6aa2\u6e2c\uff08Genetic Testing\uff09\u662f\u900f\u904e\u5206\u6790\u4eba\u9ad4 DNA \u5e8f\u5217\uff0c\u627e\u51fa\u53ef\u80fd\u5f71\u97ff\u5065\u5eb7\u3001\u9ad4\u8cea\u6216\u75be\u75c5\u98a8\u96aa\u7684\u57fa\u56e0\u8b8a\u7570\u3002<br \/>\n\u7c21\u55ae\u8b1b\uff0c\u5c31\u662f\u89e3\u8b80\u4f60\u8207\u751f\u4ff1\u4f86\u7684\u5065\u5eb7\u85cd\u5716\uff0c\u5305\u542b\uff1a<\/p>\n<ul>\n<li>\u764c\u75c7\u98a8\u96aa\u57fa\u56e0\uff08\u5982 BRCA1\/ BRCA2\uff09<\/li>\n<li>\u4e09\u9ad8\u3001\u80a5\u80d6\u7b49\u4ee3\u8b1d\u98a8\u96aa<\/li>\n<li>\u7528\u85e5\u53cd\u61c9\uff08\u85e5\u7269\u4ee3\u8b1d\u901f\u5ea6\uff09<\/li>\n<li>\u904e\u654f\u3001\u514d\u75ab\u76f8\u95dc\u57fa\u56e0<\/li>\n<li>\u904b\u52d5\u8207\u71df\u990a\u5438\u6536\u9ad4\u8cea<\/li>\n<\/ul>\n<p>\u6aa2\u6e2c\u76ee\u7684\u4e0d\u662f\u8a3a\u65b7\u75be\u75c5\uff0c\u800c\u662f\u63d0\u524d\u4e86\u89e3\u98a8\u96aa\uff0c\u8b93\u6bcf\u500b\u4eba\u90fd\u80fd\u4f9d\u81ea\u5df1\u7684\u9ad4\u8cea\u505a\u6700\u7cbe\u6e96\u7684\u5065\u5eb7\u7ba1\u7406\u3002<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%E7%9A%84%E6%8A%80%E8%A1%93%E6%BC%94%E9%80%B2%EF%BC%9A%E5%BE%9E%E5%B0%8F%E7%89%87%E6%AE%B5%E5%88%B0%E5%85%A8%E5%9F%BA%E5%9B%A0%E9%AB%94\"><\/span><strong>\u57fa\u56e0\u6aa2\u6e2c\u7684\u6280\u8853\u6f14\u9032\uff1a\u5f9e\u5c0f\u7247\u6bb5\u5230\u5168\u57fa\u56e0\u9ad4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u57fa\u56e0\u6aa2\u6e2c\u8fd1\u5341\u5e74\u6709\u5de8\u5927\u9032\u6b65\uff0c\u4e3b\u8981\u7d93\u6b77\u4e09\u500b\u6642\u4ee3\uff1a<\/p>\n<ol>\n<li><strong>\u7b2c\u4e00\u4ee3\uff1aSanger \u5b9a\u5e8f<\/strong><\/li>\n<\/ol>\n<ul>\n<li>\u4e3b\u8981\u5206\u6790\u5c0f\u7247\u6bb5 DNA<\/li>\n<li>\u904e\u53bb\u591a\u7528\u65bc\u91ab\u9662\u78ba\u8a8d\u7f55\u75c5\u6216\u7279\u5b9a\u7a81\u8b8a<\/li>\n<li>\u6210\u672c\u9ad8\u3001\u901f\u5ea6\u6162<\/li>\n<\/ul>\n<ol start=\"2\">\n<li><strong>\u7b2c\u4e8c\u4ee3\uff1a\u6b21\u4e16\u4ee3\u5b9a\u5e8f\uff08NGS\uff09<\/strong><\/li>\n<\/ol>\n<ul>\n<li>\u53ef\u4e00\u6b21\u8b80\u53d6\u5927\u91cf DNA \u8cc7\u8a0a<\/li>\n<li>\u50f9\u683c\u5927\u5e45\u4e0b\u964d<\/li>\n<li>\u662f\u76ee\u524d\u5065\u5eb7\u6aa2\u6e2c\u3001\u764c\u75c7\u57fa\u56e0\u6aa2\u6e2c\u4e3b\u6d41\u6280\u8853<\/li>\n<\/ul>\n<ol start=\"3\">\n<li><strong>\u7b2c\u4e09\u4ee3\uff1a\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09<\/strong><\/li>\n<\/ol>\n<ul>\n<li>\u80fd\u4e00\u6b21\u8b80\u53d6 100% DNA<\/li>\n<li>\u66f4\u80fd\u767c\u73fe\u7f55\u898b\u7a81\u8b8a\u8207\u7279\u6b8a\u57fa\u56e0\u8b8a\u5316<\/li>\n<li>\u6b63\u52a0\u901f\u666e\u53ca\uff0c\u6210\u70ba\u672a\u4f86\u8da8\u52e2<\/li>\n<\/ul>\n<p>\u6280\u8853\u9032\u6b65\u610f\u5473\u8457\u6aa2\u6e2c\u9805\u76ee\u8b8a\u5f97\u66f4\u5168\u9762\u3001\u6e96\u78ba\u5ea6\u66f4\u9ad8\uff0c\u4e5f\u8b93\u57fa\u56e0\u6aa2\u6e2c\u4e0d\u518d\u6602\u8cb4\u96e3\u4ee5\u53d6\u5f97\uff0c\u800c\u662f\u4eba\u4eba\u80fd\u505a\u7684\u5065\u5eb7\u6295\u8cc7\u3002<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%E4%BB%80%E9%BA%BC%E6%98%AF%E9%A0%90%E9%98%B2%E6%80%A7%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%EF%BC%9F%E5%85%88%E7%9F%A5%E9%81%93%E9%AB%94%E8%B3%AA%EF%BC%8C%E5%B0%B1%E8%83%BD%E6%8F%90%E6%97%A9%E9%A0%90%E9%98%B2\"><\/span><strong>\u4ec0\u9ebc\u662f\u9810\u9632\u6027\u57fa\u56e0\u6aa2\u6e2c\uff1f\u5148\u77e5\u9053\u9ad4\u8cea\uff0c\u5c31\u80fd\u63d0\u65e9\u9810\u9632<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u9810\u9632\u6027\u57fa\u56e0\u6aa2\u6e2c\u662f\u6307\u5728\u300c\u9084\u6c92\u751f\u75c5\u524d\u300d\u505a\u7684\u6aa2\u6e2c\uff0c\u76ee\u7684\u5728\u65bc\u4e86\u89e3\u4f60\u5929\u751f\u7684\u75be\u75c5\u50be\u5411\uff0c\u5305\u542b\uff1a<\/p>\n<ul>\n<li>\u4e73\u764c\u3001\u5375\u5de2\u764c\u5bb6\u65cf\u53f2 \u2192 BRCA \u57fa\u56e0\u6aa2\u6e2c<\/li>\n<li>\u65e9\u767c\u578b\u5927\u8178\u764c\u5bb6\u65cf \u2192 Lynch Syndrome<\/li>\n<li>\u6613\u80d6\u3001\u4e09\u9ad8\u3001\u7cd6\u5c3f\u75c5 \u2192 \u4ee3\u8b1d\u98a8\u96aa\u57fa\u56e0<\/li>\n<li>\u904e\u654f\u9ad4\u8cea\u3001\u514d\u75ab\u53cd\u61c9 \u2192 \u907a\u50b3\u6027\u514d\u75ab\u57fa\u56e0<\/li>\n<li>\u904b\u52d5\u8868\u73fe\u8207\u71df\u990a\u5438\u6536 \u2192 \u751f\u6d3b\u578b\u614b\u57fa\u56e0<\/li>\n<\/ul>\n<p>\u5b83\u7684\u6838\u5fc3\u7cbe\u795e\u662f\uff1a<br \/>\n<strong>\u300c\u57fa\u56e0\u4e0d\u6703\u6539\u8b8a\uff0c\u4f46\u751f\u6d3b\u7fd2\u6163\u53ef\u4ee5\u3002\u300d<\/strong><\/p>\n<p>\u7576\u4f60\u77e5\u9053\u81ea\u5df1\u7684\u9ad4\u8cea\uff0c\u5c31\u80fd\u63d0\u65e9\u8abf\u6574\u98f2\u98df\u3001\u904b\u52d5\u3001\u7761\u7720\u8207\u5065\u5eb7\u884c\u70ba\uff0c\u6709\u6548\u964d\u4f4e\u75be\u75c5\u98a8\u96aa\u3002<\/p>\n<p>&nbsp;<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E4%BB%A3%E4%BA%BA%E7%82%BA%E4%BB%80%E9%BA%BC%E9%9C%80%E8%A6%81%E5%81%9A%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%EF%BC%9F%E5%85%A9%E5%A4%A7%E5%9B%A0%E7%B4%A0%E6%B1%BA%E5%AE%9A%E5%81%A5%E5%BA%B7\"><\/span><strong>\u73fe\u4ee3\u4eba\u70ba\u4ec0\u9ebc\u9700\u8981\u505a\u57fa\u56e0\u6aa2\u6e2c\uff1f\u5169\u5927\u56e0\u7d20\u6c7a\u5b9a\u5065\u5eb7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u5065\u5eb7\u7531\u5169\u9805\u6838\u5fc3\u56e0\u7d20\u7d44\u6210\uff1a<\/p>\n<ol>\n<li><strong>\u57fa\u56e0\uff08\u7d04\u4f54 30\u201340%\uff09<\/strong><\/li>\n<\/ol>\n<p>\u6c7a\u5b9a\u4f60\u5929\u751f\u7684\u9ad4\u8cea\uff0c\u4f8b\u5982\uff1a\u5bb9\u6613\u80d6\u3001\u5bb9\u6613\u8840\u7cd6\u9ad8\u3001\u5bb9\u6613\u767c\u708e\u3001\u5bb9\u6613\u904e\u654f\u3001\u5c0d\u67d0\u4e9b\u85e5\u7269\u8f03\u654f\u611f\u7b49\u3002<\/p>\n<ol start=\"2\">\n<li><strong>\u751f\u6d3b\u7fd2\u6163\uff08\u7d04\u4f54 60\u201370%\uff09<\/strong><\/li>\n<\/ol>\n<p>\u98f2\u98df\u3001\u904b\u52d5\u3001\u7761\u7720\u3001\u58d3\u529b\u7ba1\u7406\u7b49\u5f8c\u5929\u884c\u70ba\uff0c\u4e3b\u5c0e\u75be\u75c5\u662f\u5426\u771f\u6b63\u767c\u751f\u3002<\/p>\n<p>\u4e5f\u5c31\u662f\u8aaa\uff0c\u5373\u4f7f\u4f60\u6709\u67d0\u4e9b\u75be\u75c5\u57fa\u56e0\uff0c\u53ea\u8981\u751f\u6d3b\u65b9\u5f0f\u8abf\u6574\u5f97\u5b9c\uff0c\u4e00\u6a23\u53ef\u4ee5\u907f\u514d\u75be\u75c5\u627e\u4e0a\u9580\u3002<\/p>\n<p>\u56e0\u6b64\uff0c\u57fa\u56e0\u6aa2\u6e2c\u7684\u50f9\u503c\u662f\u8b93\u4f60\u300c\u63d0\u65e9\u77e5\u9053\u8a72\u907f\u4ec0\u9ebc\u3001\u8a72\u88dc\u4ec0\u9ebc\u300d\uff0c\u505a\u51fa\u771f\u6b63\u6709\u6548\u7684\u5065\u5eb7\u7b56\u7565\uff0c\u800c\u4e0d\u662f\u76f2\u76ee\u8ddf\u98a8\u3002<\/p>\n<h2><\/h2>\n<h2><span class=\"ez-toc-section\" id=\"%E5%93%AA%E4%BA%9B%E4%BA%BA%E6%9C%80%E9%9C%80%E8%A6%81%E5%81%9A%E5%9F%BA%E5%9B%A0%E6%AA%A2%E6%B8%AC%EF%BC%9F%E4%BA%94%E5%A4%A7%E6%97%8F%E7%BE%A4%E5%BF%85%E7%9C%8B\"><\/span><strong>\u54ea\u4e9b\u4eba\u6700\u9700\u8981\u505a\u57fa\u56e0\u6aa2\u6e2c\uff1f\u4e94\u5927\u65cf\u7fa4\u5fc5\u770b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u4ee5\u4e0b\u65cf\u7fa4\u7279\u5225\u5efa\u8b70\u9032\u884c\u57fa\u56e0\u6aa2\u6e2c\uff1a<\/p>\n<ol>\n<li><strong>\u6709\u5bb6\u65cf\u75c5\u53f2\u8005<\/strong><\/li>\n<\/ol>\n<p>\u5982\u764c\u75c7\u3001\u5fc3\u8840\u7ba1\u75be\u75c5\u3001\u7cd6\u5c3f\u75c5\u3001\u904e\u654f\u3001\u7f55\u75c5\u7b49\u3002<\/p>\n<ol start=\"2\">\n<li><strong>\u60f3\u958b\u59cb\u500b\u4eba\u5316\u5065\u5eb7\u7ba1\u7406\u8005<\/strong><\/li>\n<\/ol>\n<p>\u5e0c\u671b\u7528\u6578\u64da\u4f86\u898f\u5283\u904b\u52d5\u3001\u98f2\u98df\u3001\u71df\u990a\u88dc\u5145\u3002<\/p>\n<ol 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