{"id":45,"date":"2022-04-21T10:40:21","date_gmt":"2022-04-21T02:40:21","guid":{"rendered":"http:\/\/web.csh.org.tw\/web\/221030\/?page_id=45"},"modified":"2026-03-27T14:38:35","modified_gmt":"2026-03-27T06:38:35","slug":"%e5%9f%ba%e5%9b%a0%e6%aa%a2%e9%a9%97%e5%88%86%e6%9e%90%e5%af%a6%e9%a9%97%e5%ae%a4","status":"publish","type":"page","link":"https:\/\/web.csh.org.tw\/web\/221030\/?page_id=45","title":{"rendered":"\u57fa\u56e0\u6aa2\u9a57"},"content":{"rendered":"\n

\u3000<\/p>\n\n\n\n

\"\"<\/a><\/figure>\n\n\n\n
\"\"\/<\/figure>\n\n\n\n

\u4e2d\u5c71\u91ab\u5b78\u5927\u5b78\u9644\u8a2d\u91ab\u9662\u7d30\u80de\u907a\u50b3\u5ba4\u6210\u7acb\u65bc\u6c11\u570b71\u5e74\uff0c\u5728\u7522\u524d\u67d3\u8272\u9ad4\u8a3a\u65b7\u662f\u53f0\u7063\u6700\u65e9\u6210\u7acb\u7684\u8cc7\u6df1\u5be6\u9a57\u5ba4\uff0c\u4e3b\u8981\u696d\u52d9\u662f\u9032\u884c\u7f8a\u6c34\u3001\u8840\u6db2\u3001\u9aa8\u9ad3\u3001\u7d68\u6bdb\u7d30\u80de\u3001\u6d41\u7522\u80ce\u5152\u7d44\u7e54\u5404\u985e\u6aa2\u9ad4\u4e4b\u9ad8\u89e3\u6790\u5ea6\u67d3\u8272\u9ad4\u6aa2\u9a57\u5206\u6790\uff0c\u540c\u6642\u63d0\u4f9b\u57fa\u56e0\u6aa2\u9a57\u670d\u52d9\u3002\u57fa\u56e0\u6aa2\u9a57\u670d\u52d9\u81f3\u4eca\u4e5f\u5df2\u7d93\u6210\u7acb20\u9918\u5e74\uff0c\u4e00\u76f4\u4ee5\u4f86\u53d7\u5230\u4e2d\u5c71\u91ab\u5b78\u5927\u5b78\u6559\u6388\u5011\u53ca\u91ab\u5e2b\u7684\u6307\u5c0e\u8207\u5354\u52a9\uff0c\u56e0\u6b64\u4e5f\u81ea\u884c\u958b\u767c\u4e86\u6578\u7a2e\u6aa2\u9a57\u54c1\u9805\uff0c\u800c\u57fa\u56e0\u6aa2\u9a57\u54c1\u9805\u591a\u6578\u70ba\u81ea\u8cbb\u6aa2\u9a57\u9805\u76ee\u3002<\/p>\n\n\n\n

\u57fa\u56e0\u6aa2\u9a57\u76ee\u524d\u63d0\u4f9b\u7684\u670d\u52d9\u9805\u76ee\u5305\u542b\uff1a<\/strong><\/p>\n\n\n\n

    \n
  1. Spinocerebellar ataxia \u5c0f\u8166\u810a\u9ad3\u904b\u52d5\u5931\u8abf\u75c7\u5019\u7fa4<\/li>\n\n\n\n
  2. Myotonic dystrophy\u808c\u5f37\u76f4\u6027\u840e\u7e2e\u75c7<\/li>\n\n\n\n
  3. SRY gene \u57fa\u56e0\u6aa2\u6e2c<\/li>\n\n\n\n
  4. CHARGE syndrome (CHD7 gene) CHARGE\u806f\u5408\u7578\u5f62<\/li>\n\n\n\n
  5. Cornelia de Lange syndrome (NIPBL gene)\u72c4\u862d\u5409\u6c0f\u75c7\u5019\u7fa4<\/li>\n\n\n\n
  6. Hypophosphatemic Rickets (PHEX gene) X\u6027\u67d3\u8272\u9ad4\u4f4e\u78f7\u6027\u4f5d\u50c2\u75c7<\/li>\n\n\n\n
  7. X-linked anhidrotic ectodermal dysplasia (EDA) (EDA gene) \u5916\u80da\u5c64\u767c\u80b2\u4e0d\u826f\u7121\u6c57\u75c7<\/li>\n\n\n\n
  8. Treacher-collin syndrome (TCOF1 gene)<\/li>\n\n\n\n
  9. KCNQ2 gene screening<\/li>\n\n\n\n
  10. SURF1 gene screening<\/li>\n\n\n\n
  11. HFE gene screening<\/li>\n\n\n\n
  12. FGFR2 gene screening<\/li>\n\n\n\n
  13. FGFR3 gene screening<\/li>\n\n\n\n
  14. \u55ae\u9ede\u57fa\u56e0\u7a81\u8b8a\u78ba\u8a8d<\/li>\n<\/ol>\n\n\n\n

    \u3000<\/p>\n\n\n\n

    \u25b6 \u57fa\u56e0\u6aa2\u9a57\u670d\u52d9\u6aa2\u9ad4\u6536\u53d7\u7bc4\u570d\u5982\u4e0b\u8868\uff1a<\/strong><\/p>\n\n\n\n

    \n \u6aa2\u9ad4\u7a2e\u985e\n <\/td>\n \u8840\u6db2\n <\/td>\n DNA\n <\/td><\/tr>
    \n \u91cf\n <\/td>\n 1-3 mL\n <\/td>\n 2-10mg\n <\/td><\/tr>
    \n \u6aa2\u9ad4\u63a1\u96c6\n <\/td>\n \u4ee5\u7d2b\u982dEDTA\u7ba1\u6536\u96c6\uff0c\u63a1\u8840\u7ba1\u61c9\u6a19\u793a\u75c5\u4eba\u8cc7\u6599\u6216\u8cbc\u4e0a\u6a19\u7c64\n <\/td> eppendorf\u6536\u96c6\uff0c\u61c9\u6a19\u793a\u75c5\u4eba\u8cc7\u6599\u8207DNA\u7e3d\u91cf
    <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
    \u904b\u9001
    \u689d\u4ef6 <\/td>    		\n \u7576\u65e5\u63a1\u6aa2\u53ef\u4ee5\u5ba4\u6eab\u9001\u9054\u7d30\u80de\u907a\u50b3\u5ba4\n \u82e5\u70ba\u9694\u5929\u624d\u6703\u9001\u9054\uff0c\u61c9\u4ee5\u51b7\u85cf\u5b85\u914d\u5bc4\u51fa\n <\/td><\/tr>
    \n \u7533\u8acb\u66f8\n <\/td>\n \u78ba\u5be6\u586b\u5beb\u570b\u5167\u7f55\u898b\u75be\u75c5\u907a\u50b3\u6aa2\u9a57\u88dc\u52a9\u540c\u610f\u66f8\u6216\u5be6\u9a57\u5ba4\u7684\u57fa\u56e0\u6aa2\u9a57\u7533\u8acb\u55ae\n <\/td><\/tr>
    \u6536\u53d7
    \u6aa2\u9ad4\u6642\u9593 <\/td>    		\n \u9031\u4e00\u81f3\u9031\u4e94\uff1a8:00-17:30\n \u9031\u516d\uff1a8:00-12:00\n <\/td><\/tr>
    \u5bc4\u9001
    \u5730\u5740 <\/td>    		\n \u53f0\u4e2d\u5e02\u5357\u5340\u5efa\u570b\u5317\u8def\u4e00\u6bb5110\u865f\n \u4e2d\u5c71\u91ab\u5b78\u5927\u5b78\u9644\u8a2d\u91ab\u9662  \u7d30\u80de\u907a\u50b3\u5ba4  \u4f59\u5982\u73ca\u6536\n <\/td><\/tr>
    \u532f\u6b3e
    \u5e33\u865f <\/td>    		 \u6236\u540d\uff1a\u4e2d\u5c71\u91ab\u5b78\u5927\u5b78\u9644\u8a2d\u91ab\u9662 \u9280\u884c\uff1a\u570b\u6cf0\u4e16\u83ef\u9280\u884c (\u4ee3\u78bc013) \u540d\u7a31\uff1a\u516c\u76ca\u5206\u884c (\u4ee3\u78bc2321) \u5e33\u865f\uff1a232-50-007821-7
    \u8acb\u65bc\u532f\u6b3e\u5f8c\u50b3\u771fATM\u8f49\u5e33\u6536\u64da\u6216\u4f86\u96fb\u544a\u77e5\u8f49\u5e33\u5e33\u865f\u5f8c\u4e94\u78bc\u53ca
    \u532f\u6b3e\u4eba\u8cc7\u8a0a\u3002
    \u50b3\u771f\u96fb\u8a71\uff1a04-24714479
    <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

    \u3000<\/p>\n\n\n\n

    \u25b6 \u6aa2\u9a57\u9805\u76ee\u5206\u6790\u6cd5\u53ca\u5831\u544a\u6240\u9700\u5de5\u4f5c\u5929\u6578\uff1a<\/strong><\/p>\n\n\n

    \n
    \"\"<\/a><\/figure><\/div>\n\n\n

    \u3000<\/p>\n\n\n\n

    \u25b6 \u5be6\u9a57\u5ba4\u7c21\u4ecb<\/strong><\/p>\n\n\n\n

    \u3000<\/p>\n\n\n\n

    \u57fa\u56e0\u6aa2\u9a57\u5206\u6790\u5be6\u9a57\u5ba4\u6210\u7acb\u81f3\u4eca\u5df2\u903e\u4e8c\u5341\u5e74\uff0c\u96a8\u8457\u55ae\u57fa\u56e0\u75be\u75c5\u7814\u7a76\u7684\u589e\u52a0\uff0c\u6211\u5011\u4e5f\u8ddf\u8457\u589e\u6dfb\u57fa\u56e0\u6aa2\u9a57\u9805\u76ee\u7684\u670d\u52d9\uff0c\u4ee5\u5229\u60a3\u8005\u53ca\u65e9\u767c\u73fe\u75c5\u56e0\u3002\u9019\u5e7e\u5e74\u4f86\u6211\u5011\u5be6\u9a57\u5ba4\u81ea\u5df1\u958b\u767c\u4e86\u6578\u5341\u9805\u7279\u6b8a\u57fa\u56e0\u6aa2\u9a57\uff0c\u4e5f\u6dfb\u8cfc\u4e86\u65b0\u5f0f\u5100\u5668\u8207\u8a2d\u5099\u3002<\/p>\n\n\n\n