{"id":2457,"date":"2015-12-10T00:00:00","date_gmt":"2015-12-10T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2457"},"modified":"2015-12-10T00:00:00","modified_gmt":"2015-12-10T00:00:00","slug":"%e5%90%91-centogene-%e5%a0%b1%e9%81%93","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/tw\/reporting-at-centogene\/","title":{"rendered":"\u5411 CENTOGENE \u532f\u5831"},"content":{"rendered":"

\u5be6\u969b\u4e0a\uff0cACMG\u6307\u5f15\u5c07\u5b5f\u5fb7\u723e\u907a\u50b3\u8b8a\u7570\u5206\u70ba\u4e94\u985e\uff1a\u81f4\u75c5\u6027\u3001\u53ef\u80fd\u81f4\u75c5\u6027\u3001\u4e0d\u78ba\u5b9a\u6027\u53ef\u80fd\u826f\u6027\u548c\u826f\u6027\uff081-5\u985e\uff09\u3002\u8b8a\u7570\u983b\u7387\u3001\u96fb\u8166\u9810\u6e2c\u3001\u4fdd\u5b88\u6027\u4ee5\u53ca\u5df2\u767c\u8868\u7684\u5305\u542b\u81e8\u5e8a\u8cc7\u8a0a\u3001\u5206\u96e2\u6578\u64da\u6216\u529f\u80fd\u5206\u6790\u7b49\u7684\u6578\u64da\uff0c\u90fd\u5fc5\u9808\u9032\u884c\u8a55\u4f30\uff0c\u4ee5\u4fbf\u6839\u64da\u5831\u544a\u6642\u53ef\u7528\u7684\u6700\u4f73\u77e5\u8b58\u5c0d\u8b8a\u7570\u9032\u884c\u5206\u985e\u3002.<\/p>\n

\u96a8\u8457\u8b8a\u7570\u983b\u7387\u77e5\u8b58\u7684\u9010\u5e74\u986f\u8457\u589e\u9577\uff0c\u5c0d\u8b8a\u7570\u7684\u91cd\u65b0\u8a55\u4f30\u662f\u589e\u9032\u6211\u5011\u5c0d\u75be\u75c5\u81f4\u75c5\u6027\u7b49\u65b9\u9762\u7406\u89e3\u7684\u91cd\u8981\u6b65\u9a5f\u3002\u70ba\u4e86\u5f37\u5316\u9019\u500b\u95dc\u9375\u4e3b\u984c\uff0cCENTOGENE \u5275\u5efa\u4e86 CentoMD\u00ae\uff0c\u9019\u662f\u4e00\u500b\u516c\u958b\u53ef\u7528\u7684\u7a81\u8b8a\u8cc7\u6599\u5eab\uff0c\u5176\u4e2d\u5305\u542b\u8a73\u7d30\u7684\u81e8\u5e8a\u8cc7\u8a0a\u3001\u983b\u7387\u3001\u7a2e\u65cf\u80cc\u666f\u7b49\u3002 CentoMD\u00ae \u4e2d\u8cc7\u8a0a\u7684\u6df1\u5ea6\u4f7f\u5f97\u67d0\u4e9b\u8b8a\u7570\u7684\u81f4\u75c5\u6027\u5224\u65b7\u50c5\u5728\u4f7f\u7528 CentoMD\u00ae \u6642\u624d\u80fd\u78ba\u5b9a\u3002\u9019\u6b63\u662f CENTOGENE \u66f4\u65b0\u5206\u985e\u7cfb\u7d71\u7684\u57fa\u790e\uff0c\u8a72\u7cfb\u7d71\u5728\u6a19\u6e96\u7684 ACMG \u5206\u985e\u57fa\u790e\u4e0a\u589e\u52a0\u4e86 0 \u985e\u548c 6-7 \u985e\u3002\u65b0\u7684\u5206\u985e\u986f\u8457\u63d0\u9ad8\u4e86\u8a55\u4f30\u6d41\u7a0b\u7684\u54c1\u8cea\u3002.<\/p>\n

CENTOGENE\u5831\u544a\u7684\u986f\u8457\u7279\u5fb5\u662f\u57fa\u65bc\u9ad8\u54c1\u8cea\u3001\u6a19\u6e96\u5316\u7684\u5be9\u6838\u6d41\u7a0b\uff0c\u5c0d\u8b8a\u7570\u9032\u884c\u5168\u9762\u3001\u7d71\u4e00\u548c\u7d9c\u5408\u7684\u5206\u985e\u3002\u9019\u7a2e\u65b9\u6cd5\u80fd\u5920\u78ba\u4fdd\u60a8\u7372\u5f97\u65b0\u767c\u73fe\u8b8a\u7570\u7684\u6700\u4f73\u5206\u985e\u548c\u81e8\u5e8a\u89e3\u8b80\u4f9d\u64da\uff0c\u540c\u6642\u4e5f\u80fd\u78ba\u4fdd\u8b8a\u7570\u5206\u985e\u7684\u8b8a\u66f4\u900f\u904e\u91cd\u65b0\u5206\u985e\u5831\u544a\u53ca\u6642\u50b3\u9054\u3002.<\/p>\n

\u5982\u6709\u4efb\u4f55\u7591\u554f\uff0c\u8acb\u96a8\u6642\u806f\u7d61\u3002 \u806f\u7d61\u6211\u5011<\/a>. \u6211\u5011\u7684\u5c08\u5bb6\u5f88\u6a02\u610f\u70ba\u60a8\u63d0\u4f9b\u5354\u52a9\u3002.<\/p>","protected":false},"excerpt":{"rendered":"

Actually, ACMG guidelines defines five classes regarding a Mendelian variant: pathogenic, likely pathogenic, uncertain likely benign and benign (class 1-5). 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