{"id":38,"date":"2025-02-12T12:46:36","date_gmt":"2025-02-12T12:46:36","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=38"},"modified":"2025-04-03T13:52:16","modified_gmt":"2025-04-03T13:52:16","slug":"%e5%85%a8%e5%a4%96%e9%a1%af%e5%ad%90%e5%ae%9a%e5%ba%8f","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/tw\/diagnostics\/whole-exome-sequencing\/","title":{"rendered":"\u5168\u5916\u986f\u5b50\u5b9a\u5e8f<br>Whole Exome Sequencing, WES"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-diagnostics-our-tests_whole-exome-sequencing-header_b6b1176a5d.webp\" alt=\"csm_centogene-diagnostics-our-tests_whole-exome-sequencing-header_b6b1176a5d\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>\u5168\u5916\u986f\u5b50\u5b9a\u5e8f<br>Whole Exome Sequencing, WES<\/h1>\r\n          <h2 class=\"bl-texto\">\u7f55\u898b\u75be\u75c5\u60a3\u8005\u5e73\u5747\u9700\u8981\u7d04 7 \u5e74\u624d\u80fd\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u3002\u900f\u904e CentoXome<sup>\u00ae<\/sup>\uff0c\u6211\u5011\u53ef\u5c07\u6f2b\u9577\u7684\u8a3a\u65b7\u6b77\u7a0b\u7e2e\u77ed\u81f3\u6578\u5929\u3002<br>\u7d50\u5408\u5148\u9032\u6280\u8853\u3001\u8c50\u5bcc\u7684\u81e8\u5e8a\u7d93\u9a57\uff0c\u4ee5\u53ca CENTOGENE \u5728\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u9818\u57df\u7d2f\u7a4d\u7684\u5927\u91cf\u57fa\u56e0\u8cc7\u6599\u8207\u9818\u5148\u7684\u91ab\u5b78\u6d1e\u5bdf\uff0c\u70ba\u60a3\u8005\u63d0\u4f9b\u66f4\u5feb\u901f\u4e14\u66f4\u7cbe\u6e96\u7684\u8a3a\u65b7\u3002<\/h2>           \r\n          <a class=\"btn btn-primary mb-2\" href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&#038;productCategory=1\">\u7acb\u5373\u8a02\u8cfc\u6aa2\u6e2c<\/a>\r\n                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/tw\/\">\u9996\u9801<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u6211\u5011\u5347\u7d1a\u7248\u7684\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u670d\u52d9<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u662f\u4e00\u9805\u5168\u9762\u6027\u7684\u57fa\u56e0\u6aa2\u6e2c\uff0c\u53ef\u8fa8\u8b58\u60a3\u8005 DNA \u4e2d\u8207\u5176\u81e8\u5e8a\u75c7\u72c0\u76f8\u95dc\u6216\u81f4\u75c5\u7684\u57fa\u56e0\u8b8a\u7570\u3002\u900f\u904e\u5206\u6790\u57fa\u56e0\u9ad4\u4e2d\u6240\u6709\u86cb\u767d\u8cea\u7de8\u78bc\u5340\uff08Exome\uff09\uff0cWES \u63d0\u4f9b\u5ee3\u6cdb\u7684\u6aa2\u6e2c\u6db5\u84cb\u7387\uff0c\u5354\u52a9\u91ab\u5e2b\u5feb\u901f\u4e14\u53ef\u9760\u5730\u5b8c\u6210\u8a3a\u65b7\u3002<\/p>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><strong>\u4ee5 CentoXome \u7a81\u7834\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u8a3a\u65b7\u6311\u6230<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u76ee\u524d\u5df2\u77e5\u7f55\u898b\u75be\u75c5\u8d85\u904e 7,000 \u7a2e\uff0c\u5176\u4e2d\u7d04 80% \u8207\u907a\u50b3\u56e0\u7d20\u6709\u95dc\uff0c\u56e0\u6b64\u7f55\u898b\u75be\u75c5\u7684\u8a3a\u65b7\u5f80\u5f80\u5145\u6eff\u6311\u6230\uff0c\u60a3\u8005\u5e38\u9700\u7d93\u6b77\u6f2b\u9577\u3001\u6602\u8cb4\u4e14\u8eab\u5fc3\u4ff1\u75b2\u7684\u8a3a\u65b7\u6b77\u7a0b\u3002<sup>1,2<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u900f\u904e WES\uff0c\u60c5\u6cc1\u5c07\u6709\u6240\u4e0d\u540c\u3002\n\n\u7531\u65bc\u7d04 85% \u5df2\u77e5\u81f4\u75c5\u57fa\u56e0\u8b8a\u7570\u4f4d\u65bc\u5916\u986f\u5b50\u5340\u57df\uff0cWES \u80fd\u4ee5\u66f4\u77ed\u7684\u6642\u9593\u53ca\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u65b9\u5f0f\u627e\u51fa\u7f55\u898b\u75be\u75c5\u7684\u81f4\u75c5\u539f\u56e0\uff0c\u9032\u800c\u6539\u5584\u60a3\u8005\u7684\u8a3a\u65b7\u8207\u6cbb\u7642\u7d50\u679c\u3002CentoXome \u66f4\u9032\u4e00\u6b65\u63d0\u5347\u4e86 WES \u7684\u8a3a\u65b7\u80fd\u529b\uff0c\u63d0\u4f9b\u5353\u8d8a\u7684\u81e8\u5e8a\u6db5\u84cb\u7387\u8207\u8a3a\u65b7\u6548\u80fd\uff0c\u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u5b8c\u6210\u5168\u9762\u5206\u6790\u3002\u6211\u5011\u7684\u7522\u54c1\u8a2d\u8a08\u53ca\u91ab\u5b78\u5224\u8b80\u7d50\u5408\u5168\u7403\u6700\u5927\u7684\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u771f\u5be6\u4e16\u754c\u8cc7\u6599\u5eab\u2014\u2014 <a href=\"https:\/\/www.centogene.com\/tw\/%e9%97%9c%e6%96%bc%e6%88%91%e5%80%91\/centogene-%e7%94%9f%e7%89%a9%e8%b3%87%e6%96%99%e5%ba%ab\/\" data-type=\"page\" data-id=\"50\" target=\"_self\">CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09<\/a>\uff0c\u63d0\u4f9b\u66f4\u7cbe\u6e96\u4e14\u53ef\u9760\u7684\u8a3a\u65b7\u7d50\u679c\u3002<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<h3 class=\"wp-block-heading\"><strong>\u4f60\u7684\u512a\u52e2\uff1a<\/strong>&nbsp;\u5354\u52a9\u5feb\u901f\u8a3a\u65b7\u8907\u96dc\u4e14\u5c1a\u672a\u78ba\u8a3a\u7684\u60a3\u8005\u500b\u6848\uff0c\u4e26\u4ee5\u66f4\u9ad8\u7684\u8a3a\u65b7\u4fe1\u5fc3\u63d0\u4f9b\u81e8\u5e8a\u6c7a\u7b56\u4f9d\u64da\u3002<\/h3>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h2 class=\"wp-block-heading\">\u70ba\u4ec0\u9ebc\u9078\u64c7 CentoXome\uff1f<\/h2>\n\n\n    <section class=\"bloque-personalizado bloque-cajas-imgs estilo-cajasiconos\" >\n        <div class=\"\"> \n                        <div class=\"row justify-content-between\">\n\n                                        \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-1\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-diagnostics-our-tests_wes_dna-search.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">\u5c07\u672a\u77e5\u5316\u70ba\u8a3a\u65b7\u7b54\u6848<\/h3>\n                            <p>\u7d50\u5408 CENTOGENE \u5728\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u591a\u9ad4\u5b78\u6aa2\u6e2c\u9818\u57df\u7684\u5c08\u696d\uff0c\u4ee5\u53ca\u5148\u9032\u7684\u6aa2\u6e2c\u6280\u8853\uff0cCentoXome \u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u63d0\u4f9b\u5353\u8d8a\u7684\u81e8\u5e8a\u6db5\u84cb\u7387\u8207\u5f37\u5927\u7684\u8a3a\u65b7\u80fd\u529b\uff0c\u5354\u52a9\u89e3\u7b54\u8907\u96dc\u7684\u81e8\u5e8a\u554f\u984c\u3002<\/p>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-2\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-diagnostics-our-tests_wes_report.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">\u5c07\u6211\u5011\u7684\u5c08\u696d\uff0c\u5316\u70ba\u60a8\u7684\u81e8\u5e8a\u512a\u52e2<\/h3>\n                            <p>\u7d50\u5408 CENTOGENE CE-IVD \u751f\u7269\u8cc7\u8a0a\u5206\u6790\u6d41\u7a0b\u53ca CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09\uff0c\u63d0\u4f9b\u696d\u754c\u9818\u5148\u7684\u81e8\u5e8a\u6d1e\u5bdf\u8207\u66f4\u7cbe\u6e96\u7684\u57fa\u56e0\u8b8a\u7570\u5224\u8b80\u3002<\/p>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                            \n                <div class=\"swiper-slide col-12 col-md-4 delay-1 delay-2 delay-3 caja\">\n                    <div class=\"caja-inner\" >\n                                                <div class=\"bl-imagen animationNo scalexTop delay-3\"><img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-diagnostics-our-tests_wes_hand-heart.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">\u5c07\u6211\u5011\u7684\u627f\u8afe\uff0c\u5316\u70ba\u60a8\u7684\u4fe1\u5fc3<\/h3>\n                            <p>\u7531\u5c08\u696d\u5718\u968a\u63d0\u4f9b\u7d42\u8eab\u8a3a\u65b7\u652f\u6301\uff08Life-long Diagnostic Support\uff09\uff0c\u6301\u7e8c\u5354\u52a9\u6539\u5584\u7f55\u898b\u75be\u75c5\u60a3\u8005\u7684\u8a3a\u65b7\u8207\u7167\u8b77\u54c1\u8cea\u3002<\/p>\n      \n                                                                          \n                        <\/div>                        \n                        \n                    <\/div>      \n                <\/div>       \n                \n                                     \n             \n            \n        <\/div>\n    <\/div>  \n<\/section>\n\n\n\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">\u5353\u8d8a\u7684\u81e8\u5e8a\u6db5\u84cb\u7387\u8207\u8a3a\u65b7\u80fd\u529b<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome \u7531\u5168\u7403\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u8a3a\u65b7\u9818\u57df\u503c\u5f97\u4fe1\u8cf4\u7684\u9818\u5c0e\u54c1\u724c CENTOGENE \u6253\u9020\uff0c\u63d0\u4f9b\u5353\u8d8a\u7684\u6aa2\u6e2c\u54c1\u8cea\u8207\u6548\u80fd\u3002\u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u5be6\u73fe\u5ee3\u6cdb\u7684\u81e8\u5e8a\u6db5\u84cb\u7387\u8207\u9818\u5148\u7684\u8a3a\u65b7\u80fd\u529b\u3002\u7d50\u5408 CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09 \u7684\u81e8\u5e8a\u6d1e\u5bdf\u8207\u5148\u9032\u7684\u591a\u9ad4\u5b78\uff08Omics\uff09\u6280\u8853\uff0cCentoXome \u76f8\u8f03\u65bc\u50b3\u7d71\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u53ef\u63d0\u4f9b\u66f4\u9ad8\u7684\u8a3a\u65b7\u7387\u3002<sup>3\u201312<\/sup><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th colspan=\"2\">\u6838\u5fc3\u7279\u8272\u8207\u6aa2\u6e2c\u6548\u80fd<\/th><\/tr><\/thead><tbody><tr><th><strong>\u5ee3\u6cdb\u4e14\u5747\u52fb\u7684\u5916\u986f\u5b50\u8207\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\u8986\u84cb<\/strong><\/th><td>\u9ad8\u5ea6\u5747\u52fb\u6db5\u84cb\u5b8c\u6574\u5916\u986f\u5b50\uff08\u7d04 20,000 \u500b\u57fa\u56e0\uff09\u3001\u6db5\u84cb\u5916\u986f\u5b50\uff0f\u5167\u542b\u5b50\u4ea4\u754c\u5340 \u00b110 bp\u3001\u5b8c\u6574\u6db5\u84cb\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\uff0837 \u500b\u57fa\u56e0\uff09\u3001\u226598% \u7684\u76ee\u6a19\u5340\u57df\u9054\u5230 \u226520\u00d7 \u8986\u84cb\u6df1\u5ea6<\/td><\/tr><tr><th><strong>\u5f37\u5316\u81e8\u5e8a\u91cd\u8981\u5340\u57df\u7684\u6aa2\u6e2c\u6db5\u84cb\u7387<\/strong><\/th><td class=\"translation-block\">\u5f37\u5316\u6db5\u84cb\u75be\u75c5\u76f8\u95dc\u57fa\u56e0\uff08\u5305\u62ec OMIM<sup>\u00ae<\/sup>\u3001HGMD<sup>\u00ae<\/sup> \u53ca CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\u6536\u9304\u4e4b\u57fa\u56e0\uff09\u3001\u226599% \u7684\u76ee\u6a19\u5340\u57df\u9054\u5230 \u226520\u00d7 \u8986\u84cb\u6df1\u5ea6\u3001\u6db5\u84cb\u5df2\u77e5\u5177\u6709\u81e8\u5e8a\u610f\u7fa9\u7684\u7de8\u78bc\u5340\u53ca\u975e\u7de8\u78bc\u5340\u57fa\u56e0\u8b8a\u7570\uff08\u4f9d\u64da HGMD<sup>\u00ae<\/sup>\u3001ClinVar \u53ca CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff09<\/td><\/tr><tr><th><strong>\u5148\u9032\u4e14\u9ad8\u9748\u654f\u5ea6\u7684\u57fa\u56e0\u8b8a\u7570\u5075\u6e2c<\/strong><\/th><td>\u6aa2\u6e2cSNV\u3001InDel\u3001SV\uff0c\u5305\u62ec\u5916\u986f\u5b50\u6c34\u5e73\u5230\u7d30\u80de\u57fa\u56e0\u7d44\u6c34\u5e73\u7684CNV\u8b8a\u5316\uff0c\u4ee5\u53ca\u5177\u6709\u226515\u7570\u8cea\u6027\u7684mtDNA %\u9748\u654f\u5ea6SNV\u548cInDel\uff08\u226450 bp\uff09&gt;99.6 %CNV<sup>*<\/sup>&gt; 95.0 %\u7279\u7570\u6027 &gt; 99.9 %\u5c0d\u6240\u6709\u5df2\u5831\u544a\u7684\u8b8a\u7570\u9ad4\u6709\u4fdd\u8b49<sup>**<\/sup>\u55ae\u89aa\u4e8c\u500d\u9ad4\uff08UPD\uff09\u6aa2\u6e2c<sup>***<\/sup>&nbsp;\u53ef\u7be9\u6aa2\u81e8\u5e8a\u4e0a\u5177\u91cd\u8981\u610f\u7fa9\u7684\u67d3\u8272\u9ad4\u5340\u57df\uff0c\u5305\u62ec\uff1a6q24\u3001\u7b2c 7 \u865f\u67d3\u8272\u9ad4\u300111p15.5\u300114q32\u300115q11-q13\u300120q13\u3001\u7b2c 20 \u865f\u67d3\u8272\u9ad4<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><strong>SNV\uff1a<\/strong>&nbsp;\u55ae\u6838\u82f7\u9178\u8b8a\u7570\uff1b;&nbsp;<strong>\u63d2\u5165\u7f3a\u5931\uff1a<\/strong>&nbsp;\u5c0f\u5e45\u63d2\u5165\/\u522a\u9664\uff1b;&nbsp;<strong>CNV\uff1a<\/strong>&nbsp;\u62f7\u8c9d\u7de8\u865f\u8b8a\u9ad4\uff1b;&nbsp;<strong>\u66f4\u65b0<\/strong>\u55ae\u89aa\u4e8c\u9ad4\uff1b;&nbsp;<strong>\u7c92\u7dda\u9ad4DNA\uff1a<\/strong>&nbsp;\u7c92\u7dda\u9ad4DNA\u3002.<br>* CNV \u6aa2\u6e2c\u8edf\u9ad4\u9748\u654f\u5ea6 &gt; 95 %\uff1b\u4f46\u662f\uff0c\u5c0d\u65bc\u91cd\u8907\u548c\u540c\u6e90\u5340\u57df\uff08\u5982\u5047\u57fa\u56e0\uff09\u4ee5\u53ca\u8de8\u8d8a\u5169\u500b\u6216\u66f4\u5c11\u5916\u986f\u5b50\u7684\u4e8b\u4ef6\uff0c\u9019\u7a2e\u9748\u654f\u5ea6\u53ef\u80fd\u6703\u964d\u4f4e\u3002.<br>** \u4f4e\u8cea\u91cf\u548c\/\u6216\u5408\u5b50\u6027\u4e0d\u660e\u78ba\u7684\u8b8a\u7570\u900f\u904e\u6b63\u4ea4\u65b9\u6cd5\u9032\u884c\u78ba\u8a8d\uff1aSNV \u548c InDel \u900f\u904e Sanger \u5b9a\u5e8f\u9032\u884c\u78ba\u8a8d\uff1bCNV \u900f\u904e\u591a\u91cd\u9023\u63a5\u4f9d\u8cf4\u6027\u63a2\u91dd\u64f4\u589e (MPLA)\u3001\u5b9a\u91cf\u805a\u5408\u9176\u934a\u5f0f\u53cd\u61c9 (qPCR) \u6216\u67d3\u8272\u9ad4\u5fae\u9663\u5217 (CMA) \u9032\u884c\u78ba\u8a8d\u3002.<br>*** \u63a1\u7528\u5167\u90e8\u958b\u767c\u7684\u5b5f\u5fb7\u723e\u907a\u50b3\u932f\u8aa4\uff08MIE\uff09\u6f14\u7b97\u6cd5\u9032\u884c\u55ae\u89aa\u4e8c\u9ad4\uff08UPD\uff09\u7be9\u6aa2\uff0c\u4ee5\u6aa2\u6e2c\u5df2\u77e5\u7684\u81e8\u5e8a\u76f8\u95dc\u67d3\u8272\u9ad4\u5340\u57df\u7684\u7d14\u5408\u6027\u7247\u6bb5\uff08ROH\uff09\u3002\u5fc5\u8981\u6642\uff0c\u4fdd\u8b49\u4f7f\u7528\u67d3\u8272\u9ad4\u5fae\u9663\u5217\u5206\u6790\uff08CMA\uff09\u9032\u884c\u5167\u90e8\u78ba\u8a8d\u6aa2\u6e2c\u3002.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<figure class=\"wp-block-image size-medium imgshadow\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features-1024x576.webp\" alt=\"\" class=\"wp-image-1543\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features-1024x576.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features-1500x844.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features-768x432.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features-1536x864.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-genetic-testing-whole-exome-sequencing-CentoXome-features.webp 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u4f55\u6642\u5efa\u8b70\u9078\u64c7\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome \u70ba\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u63d0\u4f9b\u5feb\u901f\u4e14\u5177\u6210\u672c\u6548\u76ca\u7684\u8a3a\u65b7\u65b9\u6848\uff0c\u53ef\u4f5c\u70ba\u7b2c\u4e00\u7dda\u6216\u7b2c\u4e8c\u7dda\u6aa2\u6e2c\uff0c\u5354\u52a9\u7591\u4f3c\u907a\u50b3\u75be\u75c5\u60a3\u8005\u5efa\u7acb\u5206\u5b50\u8a3a\u65b7\uff0c\u4ea6\u9069\u7528\u65bc\u5148\u524d\u57fa\u56e0\u6aa2\u6e2c\u7d50\u679c\u672a\u80fd\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u7684\u500b\u6848\u3002<sup>3, 5, 11<\/sup>&nbsp;\u76f8\u8f03\u65bc\u9032\u884c\u591a\u9805\u7368\u7acb\u7684\u5206\u5b50\u6aa2\u6e2c\uff0cCentoXome \u80fd\u4ee5\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u65b9\u5f0f\u7c21\u5316\u8a3a\u65b7\u6d41\u7a0b\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u50b3\u7d71\u4e0a\uff0c\u7576\u60a3\u8005\u5177\u6709\u8907\u96dc\u3001\u9ad8\u5ea6\u7570\u8cea\u6027\u7684\u81e8\u5e8a\u8868\u73fe\uff0c\u6216\u5148\u524d\u57fa\u56e0\u6aa2\u6e2c\u672a\u80fd\u63d0\u4f9b\u660e\u78ba\u8a3a\u65b7\u6642\uff0c\u5373\u5efa\u8b70\u63a1\u7528\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u3002\u8fd1\u5e74\u4f86\uff0cWES \u5728\u81e8\u5e8a\u4e0a\u7684\u61c9\u7528\u6301\u7e8c\u589e\u52a0\uff0c\u5df2\u9010\u6f38\u6210\u70ba\u512a\u65bc\u55ae\u57fa\u56e0\u6aa2\u6e2c\u3001NGS \u57fa\u56e0\u6aa2\u6e2c\u5957\u7d44\u53ca\u67d3\u8272\u9ad4\u5fae\u9663\u5217\u5206\u6790\uff08Chromosomal Microarray Analysis, CMA\uff09\u7684\u91cd\u8981\u8a3a\u65b7\u5de5\u5177\u3002<sup>4\u300110\u300113-15&nbsp;<\/sup>\u6b64\u5916\uff0c\u8d8a\u4f86\u8d8a\u591a\u7814\u7a76\u8b49\u5be6\uff0c\u5c07 WGS\uff0fWES \u4f5c\u70ba\u7b2c\u4e00\u7dda\u6aa2\u6e2c\u5177\u6709\u826f\u597d\u7684\u6210\u672c\u6548\u76ca\u3002<sup>16\u201318<\/sup>&nbsp;\u7f8e\u570b\u91ab\u5b78\u907a\u50b3\u5b78\u8207\u57fa\u56e0\u9ad4\u5b78\u5b78\u6703\uff08ACMG\uff09\u53ca\u5176\u4ed6\u91ab\u5b78\u5c08\u696d\u5b78\u6703\u4ea6\u5efa\u8b70\uff0c\u7576\u60a3\u8005\u7684\u81e8\u5e8a\u75c7\u72c0\u6216\u5bb6\u65cf\u53f2\u986f\u793a\u75be\u75c5\u53ef\u80fd\u5177\u6709\u907a\u50b3\u56e0\u7d20\u6642\uff0c\u61c9\u5c07\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u6216\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u5217\u70ba\u7b2c\u4e00\u7dda\u6216\u7b2c\u4e8c\u7dda\u8a3a\u65b7\u5de5\u5177\u3002<sup>19-22&nbsp;<\/sup>WES \u7684\u6aa2\u6e2c\u7d50\u679c\u6709\u52a9\u65bc\uff1a\u66f4\u5feb\u901f\u5efa\u7acb\u8a3a\u65b7\u3001\u9810\u9632\u75c7\u72c0\u9032\u4e00\u6b65\u60e1\u5316\u3001\u5236\u5b9a\u66f4\u5177\u91dd\u5c0d\u6027\u7684\u6cbb\u7642\u7b56\u7565\u3001\u6e1b\u5c11\u90e8\u5206\u9ad8\u6210\u672c\u6216\u4fb5\u5165\u6027\u6aa2\u67e5\u7684\u9700\u6c42\u3002<sup>10 ,14, 15, 19, 23<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>\u6211\u5011\u7279\u5225\u5efa\u8b70\u4ee5\u4e0b\u60a3\u8005\u9078\u64c7 CentoXome\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u75c7\u72c0\u5ee3\u6cdb\u3001\u8907\u96dc\u6216\u7f3a\u4e4f\u7279\u7570\u6027\uff0c\u7121\u6cd5\u660e\u78ba\u6307\u5411\u7279\u5b9a\u75be\u75c5\u6216\u5178\u578b\u8868\u578b<br>\u4f8b\u5982\uff1a\u767c\u5c55\u9072\u7de9\uff08Developmental Delay\uff09\u3001\u667a\u80fd\u969c\u7919\uff08Intellectual Disability\uff09\u3001\u81ea\u9589\u75c7\u985e\u7fa4\u969c\u7919\uff08Autism Spectrum Disorder\uff09\u3001\u7672\u7647\uff08Epilepsy\uff09<\/li>\n\n\n\n<li>\u61f7\u7591\u67d3\u8272\u9ad4\u4e0d\u5e73\u8861\u3001\u5fae\u7f3a\u5931\u6216\u5fae\u91cd\u8907\u75c7\u5019\u7fa4<br>\u4f8b\u5982\uff1a\u6574\u9ad4\u767c\u5c55\u9072\u7de9\u5152\u7ae5\u3001\u591a\u91cd\u5148\u5929\u6027\u7570\u5e38\u3001DiGeorge \u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u81e8\u5e8a\u61f7\u7591\u7c92\u7dda\u9ad4\u75be\u75c5<br>\u4f8b\u5982\uff1a\u808c\u8089\u7121\u529b\u3001\u5fc3\u808c\u75c5\u8b8a\u3001\u8996\u529b\u7570\u5e38<\/li>\n\n\n\n<li>\u65b0\u751f\u5152\u6216\u5152\u7ae5\u6642\u671f\u75c5\u60c5\u56b4\u91cd<br>\u4f8b\u5982\uff1a\u65b0\u751f\u5152\u52a0\u8b77\u75c5\u623f\uff08NICU\uff09\u53ca\u5152\u7ae5\u52a0\u8b77\u75c5\u623f\uff08PICU\uff09\u7684\u91cd\u75c7\u65b0\u751f\u5152\u6216\u5b30\u5e7c\u5152<\/li>\n\n\n\n<li>\u5148\u524d\u57fa\u56e0\u6aa2\u6e2c\u4ecd\u7121\u6cd5\u7372\u5f97\u660e\u78ba\u8a3a\u65b7<br>\u4f8b\u5982\uff1a\u795e\u7d93\u767c\u80b2\u9072\u7de9\u60a3\u8005\uff0c\u4e14\u6709\u75c7\u72c0\u76f8\u4f3c\u7684\u5144\u5f1f\u59ca\u59b9\uff0c\u4f46\u67d3\u8272\u9ad4\u5fae\u9663\u5217\u5206\u6790\uff08CMA\uff09\u7d50\u679c\u70ba\u9670\u6027<\/li>\n\n\n\n<li>\u5e0c\u671b\u9078\u64c7\u8f03\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u6aa2\u6e2c\u65b9\u6848<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<h3 class=\"wp-block-heading translation-block\"><b>CentoXome \u5354\u52a9\u60a8\u9762\u5c0d\u8907\u96dc\u4e14\u5c1a\u672a\u78ba\u8a3a\u7684\u500b\u6848<\/b><br><br>\n\nCentoXome \u9069\u7528\u65bc\u5404\u5e74\u9f61\u5c64\u60a3\u8005\uff0c\u5354\u52a9\u8a3a\u65b7\u8907\u96dc\u53ca\u672a\u78ba\u8a3a\u7684\u907a\u50b3\u75be\u75c5\uff0c\u6db5\u84cb\u8d85\u904e 7,000 \u7a2e\u7f55\u898b\u75be\u75c5\uff0c\u70ba\u81e8\u5e8a\u63d0\u4f9b\u5168\u9762\u4e14\u53ef\u9760\u7684\u8a3a\u65b7\u652f\u6301\u3002<\/h3>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\r\n\r\n\r\n<section class=\"bloque-tabs-resources\" id=\"tabs-group-30\">\r\n<h2 class=\"text-center mt-0\"> \u76f8\u95dc\u6848\u4f8b\u7814\u7a76<\/h2>\r\n    <div class=\"tab-content\" id=\"tab-content\">\r\n        <div class=\"acf-innerblocks-container\">\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-30\" >\r\n            <div  class=\"row\">                        <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/MAmaterial-426_Case_Studies_\u2013_CentoXome_\u2013_Intronic_Variant_V1.0_Web-pdf-400x400.jpg\" alt=\"Identifying a Clinically Relevant Intronic Variant With CentoXome\u00ae\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">Identifying a Clinically Relevant Intronic Variant With CentoXome\u00ae<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u900f\u904e CentoXome\uff08\u5347\u7d1a\u7248\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff0cWES\uff09\uff0c\u5373\u4f7f\u9762\u5c0d\u8907\u96dc\u75c5\u4f8b\u53ca\u5176\u4ed6\u5be6\u9a57\u5ba4\u672a\u80fd\u5b8c\u6210\u8a3a\u65b7\u7684\u60c5\u6cc1\uff0c\u4ecd\u6210\u529f\u5efa\u7acb\u660e\u78ba\u8a3a\u65b7\u3002\u85c9\u7531\u5075\u6e2c\u5df2\u77e5\u5177\u81f4\u75c5\u6027\u7684\u5167\u542b\u5b50\uff08Intronic\uff09\u57fa\u56e0\u8b8a\u7570\uff0cCENTOGENE \u70ba\u4e00\u540d 14 \u6b72\u5973\u6027\u60a3\u8005\u53ca\u5176\u5bb6\u5c6c\u627e\u5230\u4e86\u8a3a\u65b7\u7b54\u6848\u3002                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/MAmaterial-426_Case_Studies_\u2013_CentoXome_\u2013_Intronic_Variant_V1.0_Web.pdf\" target=\"_blank\" class=\"btn btn-2\">\u4e0b\u8f09<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                                  <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/CentoXome_CaseStudy_Mitochondrial_V2.1eng_Web_20230815-pdf-400x400.jpg\" alt=\"Identifying a Clinically Relevant Mitochondrial Variant\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">Identifying a Clinically Relevant Mitochondrial Variant<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u900f\u904e\u5168\u65b0 CentoXome \u5347\u7d1a\u7248\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\uff0cCENTOGENE \u6210\u529f\u5354\u52a9\u4e00\u540d 20 \u6b72\u5973\u6027\u60a3\u8005\u53ca\u5176\u5bb6\u5c6c\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u3002\u6b61\u8fce\u95b1\u8b80\u672c\u6848\u4f8b\uff0c\u4e86\u89e3 CentoXome \u5982\u4f55\u6709\u6548\u7e2e\u77ed\u7f55\u898b\u75be\u75c5\u60a3\u8005\u6f2b\u9577\u7684\u8a3a\u65b7\u6b77\u7a0b\u3002                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/CentoXome_CaseStudy_Mitochondrial_V2.1eng_Web_20230815.pdf\" target=\"_blank\" class=\"btn btn-2\">\u4e0b\u8f09<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                                  <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/CentoXome_CaseStudy_Uniparental_Disomy_V2eng_Web_20230329-1-pdf-400x400.jpg\" alt=\"Unraveling a Clinically Relevant Uniparental Disomy With CentoXome\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">Unraveling a Clinically Relevant Uniparental Disomy With CentoXome<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u900f\u904e CentoXome \u5347\u7d1a\u7248\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u5206\u6790\uff0cCENTOGENE \u6210\u529f\u70ba\u4e00\u540d 6 \u500b\u6708\u5927\u7537\u5b30\u5efa\u7acb\u8a3a\u65b7\u3002\u6b61\u8fce\u95b1\u8b80\u672c\u6848\u4f8b\uff0c\u4e86\u89e3 CentoXome \u5982\u4f55\u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\uff0c\u63d0\u4f9b\u5353\u8d8a\u7684\u81e8\u5e8a\u6db5\u84cb\u7387\u8207\u8a3a\u65b7\u80fd\u529b\uff0c\u5354\u52a9\u9019\u500b\u5bb6\u5ead\u627e\u5230\u671f\u5f85\u5df2\u4e45\u7684\u7b54\u6848\u3002                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/04\/CentoXome_CaseStudy_Uniparental_Disomy_V2eng_Web_20230329-1.pdf\" target=\"_blank\" class=\"btn btn-2\">\u4e0b\u8f09<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                        \r\n                \r\n                <\/div>                          \r\n            <\/div>\r\n            \r\n\r\n\r\n\r\n            \r\n\r\n\r\n                    <\/div>\r\n    <\/div>\r\n<\/section>\r\n\r\n\r\n<script>\r\n    \r\njQuery(document).ready(function(){\r\n\r\n\r\n    jQuery(\"#tabs-group-30 .tab-body\").first().addClass(\"active\");\r\n    jQuery(\"#tabs-group-30 .tab-link\").first().addClass(\"active\");    \r\n    jQuery(\"#tabs-group-30 .tab-link>a\").click(function(e){\r\n        e.preventDefault();\r\n        var id = jQuery(this).attr(\"href\");\r\n        \/\/console.log(id)       \r\n        \/\/jQuery(\"#tabs-group-30 .tab-body\").hide();\r\n        jQuery(\"#tabs-group-30 .tab-body\").removeClass(\"active\");\r\n        jQuery(\"#tabs-group-30 .tab-link\").removeClass(\"active\");\r\n        jQuery(this).parent().addClass(\"active\");\r\n        jQuery(id).addClass(\"active\");\r\n    });\r\n\r\n\r\n});\r\n<\/script>\r\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5ba2\u88fd\u5316\u6aa2\u6e2c\u65b9\u6848\u8207\u7d42\u8eab\u8a3a\u65b7\u652f\u6301&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u6211\u5011\u63d0\u4f9b\u5f48\u6027\u7684\u6aa2\u6e2c\u65b9\u6848\u53ca\u591a\u5143\u52a0\u503c\u670d\u52d9\uff0c\u4f9d\u64da\u60a3\u8005\u9700\u6c42\u91cf\u8eab\u6253\u9020 CentoXome \u6aa2\u6e2c\u65b9\u6848\u3002\u4f8b\u5982\uff0c\u9069\u7528\u65bc\u80ce\u5152\u7570\u5e38\u598a\u5a20\u7684\u7522\u524d\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08CentoXome Prenatal\uff09\uff0c\u4ee5\u53ca\u6574\u5408\u4e0d\u540c\u9ad4\u5b78\u8cc7\u6599\u7684\u591a\u9ad4\u5b78\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08CentoXome MOx 1.0 \u8207 MOx 2.0\uff09\uff0c\u70ba\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u63d0\u4f9b\u66f4\u6709\u6548\u7684\u65e9\u671f\u8a3a\u65b7\u5de5\u5177\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u70ba\u6301\u7e8c\u6539\u5584\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u60a3\u8005\u7684\u7167\u8b77\u54c1\u8cea\uff0cCentoXome \u63d0\u4f9b\u7d42\u8eab\u8a3a\u65b7\u652f\u6301\uff0c\u5305\u62ec\u514d\u8cbb\u4e14\u4e3b\u52d5\u7684\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\uff08Variant Reclassification\uff09\u670d\u52d9\uff0c\u4ee5\u53ca\u91dd\u5c0d\u7d50\u679c\u4e0d\u78ba\u5b9a\u6216\u672a\u7372\u8a3a\u65b7\u500b\u6848\u6240\u63d0\u4f9b\u7684\u7d93\u6fdf\u5be6\u60e0\u500b\u6848\u91cd\u65b0\u5206\u6790\uff08Case-level Reanalysis\uff09\u3002\u96a8\u8457\u65b0\u7684\u75be\u75c5\u57fa\u56e0\u6301\u7e8c\u88ab\u767c\u73fe\uff0c\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u7684\u8a3a\u65b7\u7387\u4e5f\u4e0d\u65b7\u63d0\u5347\u3002\u7814\u7a76\u6307\u51fa\uff0c\u7d04 10\u201320% \u5c1a\u672a\u78ba\u8a3a\u7684\u60a3\u8005\uff0c\u53ef\u900f\u904e\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\u53ca\u57fa\u56e0\u9ad4\u8cc7\u6599\u91cd\u65b0\u5206\u6790\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u3002<sup>15, 24<\/sup><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th colspan=\"4\">\u6aa2\u6e2c\u65b9\u6848\u8207\u52a0\u503c\u670d\u52d9<\/th><\/tr><\/thead><tbody><tr><th colspan=\"2\"><strong>\u6aa2\u6e2c\u8a2d\u8a08<sup>*<\/sup><\/strong><\/th><td colspan=\"2\">Solo\uff08\u55ae\u4eba\uff09\u3001Duo\uff08\u96d9\u4eba\uff09\u3001Trio\uff08\u4e09\u4eba\uff09\u3001PLUS\u3001\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\u5206\u6790\u50c5\u91dd\u5c0d\u5148\u8b49\u8005\uff08Index Patient\uff09\u53ca\u6bcd\u89aa\u6aa2\u9ad4\u9032\u884c\u3002<\/td><\/tr><tr><th rowspan=\"5\"><strong>\u6aa2\u6e2c\u65b9\u6848<\/strong><\/th><th><strong>CentoXome<\/strong><\/th><td colspan=\"2\">\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\uff08\u7522\u5f8c\u6aa2\u6e2c\uff09\u3002\u6aa2\u6e2c\u6642\u7a0b\uff08TAT\uff09\uff1a\u226430 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th><strong>CentoXome MOx<sup>**<\/sup><\/strong><\/th><td colspan=\"2\">\u6574\u5408 WES\u3001\u751f\u5316\u6aa2\u6e2c\u53ca\uff0f\u6216 RNA \u5b9a\u5e8f\uff08RNA-Seq\uff09\u7684\u4e00\u7ad9\u5f0f\u591a\u9ad4\u5b78\u6aa2\u6e2c\u65b9\u6848\uff0c\u53ef\u5206\u6790\u526a\u63a5\u8b8a\u7570\uff08Splicing Variants\uff09\u3002CentoXome MOx 1.0\uff1a\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7522\u5f8c\u6aa2\u6e2c\uff1bTAT\uff1a\u226430 \u500b\u5de5\u4f5c\u5929\u3002CentoXome MOx 2.0\uff1a\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7522\u5f8c\u6aa2\u6e2c\uff1bTAT\uff1a\u226435 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th><strong>CentoXome Prenatal<sup>***<\/sup><\/strong><\/th><td colspan=\"2\">\u9069\u7528\u65bc\u7522\u524d\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u3002\u9069\u7528\u60c5\u6cc1\uff1a\u8d85\u97f3\u6ce2\u6aa2\u67e5\u767c\u73fe\u80ce\u5152\u7d50\u69cb\u7570\u5e38\u3001\u50b3\u7d71\u7522\u524d\u6aa2\u6e2c\u7121\u6cd5\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u3002\u670d\u52d9\u5305\u542b\uff1a\u512a\u5148\u8655\u7406\u8207\u52a0\u901f\u6aa2\u6e2c\u3001\u7d30\u80de\u57f9\u990a\uff08Cell Culture\uff09\u3001\u6bcd\u9ad4\u7d30\u80de\u6c61\u67d3\u5206\u6790\uff08Maternal Cell Contamination, MCC\uff09\u3002TAT\uff1a\u226415 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th><strong>CentoXome POC<sup>***<\/sup><\/strong><\/th><td colspan=\"2\">\u9069\u7528\u65bc\u6d41\u7522\u7d44\u7e54\uff08Products of Conception, POC\uff09\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\u3002\u9069\u7528\u60c5\u6cc1\uff1a\u5b50\u5bae\u5167\u80ce\u5152\u6b7b\u4ea1\uff08IUFD\uff09\u3001\u6b7b\u7522\uff08Stillbirth\uff09\u3001\u5e0c\u671b\u4e86\u89e3\u80ce\u5152\u6d41\u5931\u539f\u56e0\u53ca\u518d\u6b21\u767c\u751f\u98a8\u96aa\u3001\u50b3\u7d71\u6aa2\u6e2c\u65b9\u6cd5\u7121\u6cd5\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u3002\u670d\u52d9\u5305\u542b\uff1a\u7d30\u80de\u57f9\u990a\u3001\u6bcd\u9ad4\u7d30\u80de\u6c61\u67d3\u5206\u6790\uff08MCC\uff09\u3002TAT\uff1a\u226430 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th><strong>CentoXome Variants<\/strong><\/th><td colspan=\"2\">\u63d0\u4f9b\u7814\u7a76\u7528\u9014\u7684 WES \u539f\u59cb\u53ca\u8655\u7406\u5f8c\u8cc7\u6599\uff0c\u5305\u62ec\uff1aFASTQ\u3001BAM\u3001VCF\u3001\u5df2\u7be9\u9078\u53ca\u8a3b\u89e3\u7684 XLS \u57fa\u56e0\u8b8a\u7570\u6a94\u6848\u3002\u53ef\u900f\u904e CentoPortal \u514d\u8cbb\u4e0b\u8f09\uff0c\u4e0b\u8f09\u671f\u9650\u70ba 30 \u5929\u3002TAT\uff1a\u226420 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th rowspan=\"2\"><strong>\u52a0\u503c\u670d\u52d9<\/strong><\/th><th><strong>FAST \u5feb\u901f\u8655\u7406<\/strong><\/th><td colspan=\"2\">\u2264 15 \u500b\u5de5\u4f5c\u5929\uff08\u4e0d\u9069\u7528\u65bc CentoXome MOx 2.0\uff09<\/td><\/tr><tr><th><strong>\u514d\u8cbb\u63d0\u4f9b\u539f\u59cb\u8cc7\u6599<\/strong><\/th><td colspan=\"2\">\u6240\u6709\u9644\u6709\u91ab\u5b78\u5831\u544a\u7684\u6aa2\u6e2c\u65b9\u6848\u7686\u53ef\u514d\u8cbb\u53d6\u5f97\u539f\u59cb\u53ca\u8655\u7406\u5f8c\u8cc7\u6599\uff0c\u5305\u62ec\uff1aFASTQ\u3001BAM\u3001VCF\u3001\u5df2\u7be9\u9078\u53ca\u8a3b\u89e3\u7684 XLS \u57fa\u56e0\u8b8a\u7570\u6a94\u6848\u3002\u53ef\u900f\u904e CentoPortal \u514d\u8cbb\u4e0b\u8f09\uff0c\u4e0b\u8f09\u671f\u9650\u70ba 30 \u5929\u3002<\/td><\/tr><tr><th colspan=\"2\">\u7d42\u8eab\u8a3a\u65b7\u652f\u6301<sup>****<\/sup><\/th><td colspan=\"2\">\u4e3b\u52d5\u5f0f\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\uff08Variant-level Reclassification\uff09\uff1a\u82e5\u6709\u65b0\u7684\u5206\u985e\u7d50\u679c\uff0c\u5c07\u514d\u8cbb\u63d0\u4f9b\u91cd\u65b0\u5206\u985e\u5831\u544a\u3002\u500b\u6848\u91cd\u65b0\u5206\u6790\uff08Case-level Reanalysis\uff09\uff1a\u91dd\u5c0d\u7d50\u679c\u4e0d\u78ba\u5b9a\u6216\u672a\u7372\u8a3a\u65b7\u7684\u500b\u6848\uff08\u4f8b\u5982\u65b0\u589e\u81e8\u5e8a\u8cc7\u8a0a\u6216\u9593\u9694\u4e00\u5e74\u5f8c\uff09\uff0c\u63d0\u4f9b\u7d93\u6fdf\u5be6\u60e0\u7684\u91cd\u65b0\u5206\u6790\u670d\u52d9\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph translation-block\"><strong>TAT\uff1a<\/strong>\u6aa2\u6e2c\u6642\u7a0b\uff08Turnaround Time\uff09\u3002<br>\n\n<sup>*<\/sup><strong> Solo\uff1a<\/strong>\u50c5\u6aa2\u6e2c\u5148\u8b49\u8005\uff08Index Patient\uff09\uff1b<strong>Duo\uff1a<\/strong>\u6aa2\u6e2c\u5148\u8b49\u8005\u53ca\u4e00\u4f4d\u53d7\u5f71\u97ff\u6216\u672a\u53d7\u5f71\u97ff\u7684\u5bb6\u5c6c\uff1b<strong>Trio\uff1a<\/strong>\u6aa2\u6e2c\u5148\u8b49\u8005\u53ca\u5169\u4f4d\u53d7\u5f71\u97ff\u6216\u672a\u53d7\u5f71\u97ff\u7684\u5bb6\u5c6c\uff1b<strong>PLUS\uff1a<\/strong>\u65bc Trio \u65b9\u6848\u4e4b\u5916\uff0c\u518d\u589e\u52a0\u4e00\u4f4d\u5bb6\u5c6c\u9032\u884c\u6aa2\u6e2c\u3002<br>\n\n<sup>**<\/sup> \u66f4\u591a\u6709\u95dc\u6211\u5011<a href=\"https:\/\/www.centogene.com\/tw\/%e8%a8%ba%e6%96%b7\/%e5%a4%9a%e9%ab%94%e5%ad%b8%e8%a7%a3%e6%b1%ba%e6%96%b9%e6%a1%88\/\" data-type=\"page\" data-id=\"1419\" target=\"_self\">\u591a\u9ad4\u5b78\u89e3\u6c7a\u65b9\u6848\uff08Multiomic Solutions\uff09<\/a>\u7684\u8cc7\u8a0a\u3002<br>\n\n<sup>***<\/sup> \u53d7\u9650\u65bc\u6280\u8853\u9650\u5236\uff0c\u672c\u670d\u52d9\u4e0d\u63d0\u4f9b\u4ee5 WES \u70ba\u57fa\u790e\u7684\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\u5206\u6790\u53ca\u55ae\u89aa\u4e8c\u500d\u9ad4\uff08UPD\uff09\u7be9\u6aa2\u3002\u66f4\u591a\u8cc7\u8a0a\u8acb\u53c3\u95b1<a href=\"https:\/\/www.centogene.com\/tw\/%e7%94%9f%e6%ae%96%e5%81%a5%e5%ba%b7\/%e9%9d%9e%e4%be%b5%e5%85%a5%e6%80%a7%e7%94%a2%e5%89%8d%e6%aa%a2%e6%b8%ac-centonipt\/\" data-type=\"page\" data-id=\"1423\" target=\"_self\">\u7522\u524d\u57fa\u56e0\u6aa2\u6e2c\uff08Prenatal Testing\uff09<\/a>\u3002<br>\n\n<sup>****<\/sup> \u500b\u6848\u91cd\u65b0\u5206\u6790\uff08Case Reanalysis\uff09\u50c5\u9069\u7528\u65bc 2020 \u5e74 8 \u6708\uff08\u542b\uff09\u4e4b\u5f8c\u5b8c\u6210\u539f\u59cb\u5b9a\u5e8f\u7684\u6aa2\u6e2c\u8a02\u55ae\u3002\u66f4\u591a\u8cc7\u8a0a\u8acb\u53c3\u95b1<a href=\"https:\/\/www.centogene.com\/tw\/%e9%97%9c%e6%96%bc%e6%88%91%e5%80%91\/%e8%ae%8a%e7%95%b0%e9%87%8d%e6%96%b0%e5%88%86%e9%a1%9e\/\" data-type=\"page\" data-id=\"1451\" target=\"_self\">\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\u8a08\u756b\uff08Variant Reclassification Program\uff09<\/a>\u3002<br><\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<figure class=\"wp-block-image size-medium imgshadow\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"574\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b-1024x574.webp\" alt=\"\" class=\"wp-image-1545\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b-1024x574.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b-1500x842.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b-768x431.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b-1536x862.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene-genetic-testing-whole-exome-sequencing-CentoXome-life-long-support_c3a0d5285b.webp 1918w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u7531\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u8a3a\u65b7\u9818\u57df\u7684\u9818\u5c0e\u8005\u8207\u503c\u5f97\u4fe1\u8cf4\u7684\u5408\u4f5c\u5925\u4f34\uff0c\u63d0\u4f9b\u696d\u754c\u9818\u5148\u7684\u81e8\u5e8a\u6d1e\u5bdf&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u9078\u64c7 CENTOGENE \u7684\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u670d\u52d9\uff0c\u91ab\u5e2b\u3001\u60a3\u8005\u53ca\u5408\u4f5c\u5925\u4f34\u7686\u53ef\u5b89\u5fc3\u7372\u5f97\u9ad8\u54c1\u8cea\u5b9a\u5e8f\u7d50\u679c\uff0c\u642d\u914d\u5353\u8d8a\u7684\u8cc7\u6599\u5206\u6790\u3001\u91ab\u5b78\u5224\u8b80\u53ca\u5b8c\u6574\u7684\u91ab\u5b78\u5831\u544a\u3002\u900f\u904e CE-IVD \u751f\u7269\u8cc7\u8a0a\u5206\u6790\u6d41\u7a0b\u6574\u5408\u6df1\u5ea6\u8868\u578b\uff08Phenotype\uff09\u8207\u57fa\u56e0\u578b\uff08Genotype\uff09\u8cc7\u6599\uff0cCENTOGENE \u80fd\u7cbe\u6e96\u8fa8\u8b58\u81f4\u75c5\u57fa\u56e0\u8b8a\u7570\uff0c\u63d0\u4f9b\u696d\u754c\u9818\u5148\u7684\u81e8\u5e8a\u5224\u8b80\u8207\u91ab\u5b78\u5831\u544a\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome\u00ae \u7684\u6aa2\u6e2c\u670d\u52d9\u7686\u5305\u542b\u5c08\u696d\u91ab\u5b78\u5831\u544a\uff0c\u7531\u5177\u5099\u8c50\u5bcc\u81e8\u5e8a\u5224\u8b80\u7d93\u9a57\u7684\u5c08\u5bb6\u5718\u968a\u5b8c\u6210\uff0c\u4e26\u7d50\u5408 CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09\u4e2d\u7d93\u56b4\u683c\u9a57\u8b49\u7684\u57fa\u56e0\u8b8a\u7570\u8cc7\u6599\uff0c\u4ee5\u53ca\u570b\u969b\u6700\u4f73\u5be6\u52d9\u6307\u5f15\u9032\u884c\u5206\u6790\u3002\u6211\u5011\u7684\u81e8\u5e8a\u907a\u50b3\u5b78\u5c08\u5bb6\u8207\u79d1\u5b78\u5718\u968a\u6703\u4ed4\u7d30\u5224\u8b80\u6bcf\u4e00\u4efd\u6aa2\u6e2c\u8cc7\u6599\uff0c\u4e26\u9010\u4e00\u5be9\u67e5\u6240\u6709\u91ab\u5b78\u5831\u544a\u3002\u6b77\u5e74\u7d2f\u7a4d\u7684\u9ad8\u54c1\u8cea\u57fa\u56e0\u8b8a\u7570\u5206\u985e\u7d50\u679c\u7686\u7d93\u904e\u6574\u7406\u3001\u9a57\u8b49\u4e26\u6536\u9304\u65bc CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\u4e2d\uff0c\u4f5c\u70ba\u8a3a\u65b7\u5224\u8b80\u8207\u57fa\u56e0\u8b8a\u7570\u5206\u985e\u7684\u91cd\u8981\u4f9d\u64da\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u6240\u6709\u6aa2\u6e2c\u5831\u544a\u7686\u63d0\u4f9b\u6e05\u695a\u4e14\u53ef\u57f7\u884c\u7684\u81e8\u5e8a\u7d50\u679c\u3001\u8a3a\u7642\u5efa\u8b70\u53ca\u5f8c\u7e8c\u6aa2\u6e2c\u65b9\u5411\uff0c\u4e26\u4ee5\u60a3\u8005\u7684\u81e8\u5e8a\u8868\u578b\uff08Phenotype\uff09\u70ba\u6838\u5fc3\u9032\u884c\u5206\u6790\u8207\u5831\u544a\u3002<\/strong><\/p>\n\n\n<section class=\"bloque-acordeon\" id=\"\">\n    <div class=\"accordion\" id=\"accordionBlock\">\n        <div class=\"acf-innerblocks-container\">\n\n<div class=\"accordion-item\" >\n    <h2 class=\"accordion-header\" id=\"heading-197\">\n      <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#item-197\" aria-expanded=\"false\" aria-controls=\"item-197\">\n      \u6df1\u5165\u4e86\u89e3\u91ab\u5b78\u5831\u544a      <\/button>\n    <\/h2>\n    <div id=\"item-197\" class=\"accordion-collapse collapse\" aria-labelledby=\"heading-197\" data-bs-parent=\"#accordionBlock\">\n      <div class=\"accordion-body\">\n        <div class=\"acf-innerblocks-container\">\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7d50\u69cb\u6e05\u6670\u3001\u5167\u5bb9\u7cbe\u7c21\u4e14\u7d50\u8ad6\u660e\u78ba\u7684\u5831\u544a\u683c\u5f0f\u3002<\/li>\n\n\n\n<li>\u5b8c\u6574\u8a55\u4f30\u60a3\u8005\u5bb6\u65cf\u53f2\u53ca\u81e8\u5e8a\u8cc7\u8a0a\u3002<\/li>\n\n\n\n<li>\u4f9d\u64da\u570b\u969b\u6700\u4f73\u5be6\u52d9\u6307\u5f15\uff08ACMG\/AMP \u8207 ClinGen\uff09\u5224\u8b80\u57fa\u56e0\u8b8a\u7570\uff0c\u6e05\u695a\u8aaa\u660e\u53ef\u89e3\u91cb\u60a3\u8005\u81e8\u5e8a\u8868\u578b\u7684\u57fa\u56e0\u8b8a\u7570\u3002<sup>25-27<\/sup><\/li>\n\n\n\n<li>\u63d0\u4f9b\u7279\u5b9a\u75be\u75c5\u7684\u9451\u5225\u8a3a\u65b7\u5efa\u8b70\u53ca\u5f8c\u7e8c\u6aa2\u6e2c\u5efa\u8b70\u3002<\/li>\n\n\n\n<li>\u5f15\u7528\u652f\u6301\u91ab\u5b78\u5224\u8b80\u7684\u6700\u65b0\u6587\u737b\uff0c\u4e26\u8a73\u7d30\u8aaa\u660e\u6aa2\u6e2c\u65b9\u6cd5\u3002<\/li>\n\n\n\n<li>\u4e3b\u8981\u767c\u73fe\uff08Main Findings\uff09\uff1a\u5305\u542b\u8207\u60a3\u8005\u81e8\u5e8a\u8868\u578b\u76f8\u95dc\u7684\u78ba\u8a3a\u7d50\u679c\uff0c\u4ee5\u53ca\u5728\u7121\u6cd5\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\u6642\uff0c\u63d0\u4f9b\u53ef\u80fd\u8a3a\u65b7\u65b9\u5411\u7684\u7814\u7a76\u6027\u767c\u73fe\u3002&nbsp;<\/li>\n\n\n\n<li>\u6f5b\u5728\u81e8\u5e8a\u76f8\u95dc\u767c\u73fe\uff08Potentially Relevant Findings\uff09\uff1a\u5831\u544a\u8207\u60a3\u8005\u76ee\u524d\u81e8\u5e8a\u8868\u578b\u7121\u76f4\u63a5\u76f8\u95dc\uff0c\u4f46\u53ef\u80fd\u5177\u6709\u81e8\u5e8a\u610f\u7fa9\u7684\u57fa\u56e0\u8b8a\u7570\uff0c\u4ee5\u5354\u52a9\u7e2e\u5c0f\u8a3a\u65b7\u7bc4\u570d\u3002<\/li>\n\n\n\n<li>\u6b21\u8981\u767c\u73fe\uff08Secondary Findings\uff09\uff08\u9078\u914d\uff09\uff1a\u4f9d\u64da ACMG \u6307\u5f15<sup>26<\/sup>&nbsp;\uff0c\u70ba\u6240\u6709\u53d7\u6aa2\u8005\u63d0\u4f9b\u5177\u91ab\u7642\u53ef\u884c\u6027\u7684\u5076\u767c\u6027\u767c\u73fe\u5831\u544a\u3002<\/li>\n\n\n\n<li>CENTOGENE \u5e36\u56e0\u8005\u5206\u6790\uff08Carriership Findings\uff09\uff08\u9078\u914d\uff09\uff1a\u70ba\u6240\u6709\u53d7\u6aa2\u8005\u63d0\u4f9b\u5e36\u56e0\u8005\u5206\u6790\uff0c\u91dd\u5c0d\u8207\u60a3\u8005\u76ee\u524d\u81e8\u5e8a\u8868\u578b\u7121\u95dc\uff0c\u4f46\u65bc CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\u4e2d\u88ab\u5206\u985e\u70ba\u81f4\u75c5\uff08Pathogenic\uff09\u6216\u53ef\u80fd\u81f4\u75c5\uff08Likely Pathogenic\uff09\uff0c\u4e14\u8207\u7279\u5b9a\u96b1\u6027\u907a\u50b3\u3001\u91cd\u75c7\u53ca\u65e9\u767c\u578b\u5b5f\u5fb7\u723e\u907a\u50b3\u75be\u75c5\u76f8\u95dc\u7684\u57fa\u56e0\u8b8a\u7570\u9032\u884c\u5831\u544a\uff0c\u70ba\u751f\u80b2\u898f\u5283\u63d0\u4f9b\u5177\u81e8\u5e8a\u50f9\u503c\u7684\u8cc7\u8a0a\u3002<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u66f4\u591a\u8cc7\u8a0a\uff0c\u8acb\u53c3\u95b1 <a href=\"https:\/\/www.centogene.com\/tw\/%e9%97%9c%e6%96%bc%e6%88%91%e5%80%91\/%e9%86%ab%e5%ad%b8%e5%a0%b1%e5%91%8a\/\" data-type=\"page\" data-id=\"52\" target=\"_self\"> \u91ab\u5b78\u5831\u544a\uff08Medical Reporting\uff09 <\/a><\/p>\n\n<\/div>\n      <\/div>\n    <\/div>\n  <\/div>\n\n\n<\/div>\n    <\/div>\n<\/section>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<figure class=\"wp-block-image size-medium imgshadow\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-1024x576.webp\" alt=\"\" class=\"wp-image-1510\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-1024x576.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-1500x844.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-768x432.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-1536x864.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header.webp 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n<section class=\"bloque-personalizado bloque-cta-texto estilo-default\" >\n    <div class=\"container\"> \n                    <div class=\"image-wrapper\" style=\"background-image:url(https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg)\">\n                <!--<img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/02\/csm_centogene_transcriptomics_multiomics_offering_20230918_2800_4_892e5e6e08-1500x844.jpg\" alt=\"CentoXome MOx 2.0 Including RNA Sequencing Is Now Available\" \/>-->\n            <\/div>\n                <div class=\"row\">\n                        <div class=\"col-12 col-md-6 animation fadeLeft text-wrapper\">\n                <p class=\"bl-pretitulo\">MOx 2.0<\/p>                <div class=\"bl-titulo\">CentoXome MOx 2.0 \u73fe\u5df2\u63d0\u4f9b RNA \u5b9a\u5e8f\u5206\u6790<\/div>\n\n                                                <div class=\"mt-0 mb-3\">\n                    <a href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&#038;productCategory=1\"\n                     target=\"_blank\"     \n                    class=\"btn btn-primary animation opacity delay-2\">\u4e86\u89e3\u66f4\u591a<\/a>\n                <\/div>\n                            <\/div>\n                    <\/div> \n    <\/div>  \n<\/section>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\r\n\r\n\r\n<section class=\"bloque-tabs-resources\" id=\"tabs-group-811\">\r\n<h2 class=\"text-center mt-0\"> \u66f4\u591a\u8cc7\u8a0a\u8207\u8cc7\u6e90<\/h2>\r\n    <div class=\"tab-content\" id=\"tab-content\">\r\n        <div class=\"acf-innerblocks-container\">\r\n                        \r\n            <div class=\"tab-link\"  id=\"tab-link-downloads-811\" >\r\n                <a href=\"#tab-body-downloads-811\"  data-id=\"811\">\r\n                    \u4e0b\u8f09\u5c08\u5340                <\/a>\r\n            <\/div>\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-811\" >\r\n            <div  class=\"row\">                        <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2024\/05\/MAmaterial-353-Product-Sheet-CentoXome-V11.0-Web-pdf-402x400.jpg\" alt=\"CentoXome | \u7522\u54c1\u624b\u518a\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoXome | \u7522\u54c1\u624b\u518a<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u5168\u5916\u986f\u5b50\u5b9a\u5e8f<br>Whole Exome Sequencing, WES                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2024\/05\/MAmaterial-353-Product-Sheet-CentoXome-V11.0-Web.pdf\" target=\"_blank\" class=\"btn btn-2\">\u4e0b\u8f09<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                                  <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/MAmaterial-12_Patient_Flyer_-_CentoXome_V20.0_Web-pdf-191x400.jpg\" alt=\"CentoXome&lt;sup&gt;\u00ae&lt;\/sup&gt; \u2013 \u60a3\u8005\u8cc7\u8a0a\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoXome<sup>\u00ae<\/sup> \u2013 \u60a3\u8005\u8cc7\u8a0a<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>CentoXome<sup>\u00ae<\/sup> \u2013 \u5168\u5916\u986f\u5b50\u9ad4\u5b9a\u5e8f\uff08WES\uff09<\/p>                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/MAmaterial-12_Patient_Flyer_-_CentoXome_V20.0_Web.pdf\" target=\"_blank\" class=\"btn btn-2\">\u4e0b\u8f09<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                        \r\n                \r\n                <\/div>                          \r\n            <\/div>\r\n            \r\n\r\n\r\n\r\n                        <div class=\"tab-link\"  id=\"tab-link-webinars-811\" >\r\n                <a href=\"#tab-body-webinars-811\"  data-id=\"811\">\r\n                    \u7db2\u8def\u7814\u8a0e\u6703                <\/a>\r\n            <\/div>      \r\n\r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-webinars-811\" >\r\n                <div  class=\"row\">                        <article class=\"col-xl-4 col-md-6 col-12\">\r\n                            <div class=\"item-noticia\">\r\n\r\n                                <div class=\"bl-texto\">            \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/variant-reclassification\/\" rel=\"bookmark\" title=\"\u8b8a\u7570\u91cd\u65b0\u5206\u985e&lt;br&gt;Variant Reclassification\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">\u8b8a\u7570\u91cd\u65b0\u5206\u985e<br>Variant Reclassification<\/h4>\r\n                                    <\/a>\r\n                                    \u4e86\u89e3 CENTOGENE \u5982\u4f55\u900f\u904e\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\uff08Variant Reclassification\uff09\uff0c\u6301\u7e8c\u63d0\u4f9b\u6700\u65b0\u4e14\u9ad8\u54c1\u8cea\u7684\u57fa\u56e0\u8b8a\u7570\u8cc7\u8a0a\uff0c\u5354\u52a9\u91ab\u5e2b\u7372\u5f97\u6700\u5373\u6642\u3001\u6700\u7cbe\u6e96\u7684\u8a3a\u65b7\u4f9d\u64da\u3002                                     <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2025-04-3\" pubdate>2025 \u5e74 4 \u6708 3 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biomarker\/\" class=\"cat-link\">\u751f\u7269\u6a19\u8a18 (Biomarker)<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u8cc7\u6599\u5eab<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/ngs\/\" class=\"cat-link\">NGS<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/variant-reclassification\/\" rel=\"bookmark\" title=\"\u8b8a\u7570\u91cd\u65b0\u5206\u985e&lt;br&gt;Variant Reclassification\" class=\"btn btn-2\">\u7acb\u5373\u89c0\u770b<\/a>\r\n\r\n                                <\/div>\r\n                            <\/div>\r\n                        <\/article>\r\n                                            <article class=\"col-xl-4 col-md-6 col-12\">\r\n                            <div class=\"item-noticia\">\r\n\r\n                                <div class=\"bl-texto\">            \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/mox-advancing-rare-disease-patient-care-with-multiomic-solutions\/\" rel=\"bookmark\" title=\"MOx \u2013 Advancing Rare Disease Patient Care With Multiomic Solutions\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">MOx \u2013 Advancing Rare Disease Patient Care With Multiomic Solutions<\/h4>\r\n                                    <\/a>\r\n                                    \u7acb\u5373\u89c0\u770b\u96a8\u9078\u7db2\u8def\u7814\u8a0e\u6703\uff0c\u6df1\u5165\u4e86\u89e3 CENTOGENE \u7684\u591a\u9ad4\u5b78\u9769\u65b0\u3002\u900f\u904e\u591a\u9762\u5411\u5206\u6790\uff0c\u5f9e\u4e0d\u540c\u89d2\u5ea6\u89e3\u6790\u6bcf\u4f4d\u60a3\u8005\uff0c\u6574\u5408\u6df1\u5ea6\u77e5\u8b58\u8207\u81e8\u5e8a\u6d1e\u5bdf\uff0c\u5efa\u7acb\u66f4\u5b8c\u6574\u7684\u75be\u75c5\u5168\u8c8c\u3002                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2022-03-18\" pubdate>2022 \u5e74 3 \u6708 18 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8b1d\u75be\u75c5<br>Metabolic Disorders<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/multiomics\/\" class=\"cat-link\">\u591a\u9ad4\u5b78<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/mox-advancing-rare-disease-patient-care-with-multiomic-solutions\/\" rel=\"bookmark\" title=\"MOx \u2013 Advancing Rare Disease Patient Care With Multiomic Solutions\" class=\"btn btn-2\">\u7acb\u5373\u89c0\u770b<\/a>\r\n\r\n                                <\/div>\r\n                            <\/div>\r\n                        <\/article>\r\n                                            <article class=\"col-xl-4 col-md-6 col-12\">\r\n                            <div class=\"item-noticia\">\r\n\r\n                                <div class=\"bl-texto\">            \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/rewrite-the-future-of-rare-diseases-with-multiomics\/\" rel=\"bookmark\" title=\"\u5229\u7528\u591a\u7d44\u5b78\u91cd\u5851\u7f55\u898b\u75be\u75c5\u7684\u672a\u4f86\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">\u5229\u7528\u591a\u7d44\u5b78\u91cd\u5851\u7f55\u898b\u75be\u75c5\u7684\u672a\u4f86<\/h4>\r\n                                    <\/a>\r\n                                    \u6211\u5011\u7684\u6f14\u8b1b\u5609\u8cd3\uff0c\u8a3a\u65b7\u696d\u52d9\u9996\u5e2d\u5546\u52d9\u5b98 Maximilian Schmid \u91ab\u5b78\u535a\u58eb\u548c\u57fa\u56e0\u7d44\u5b78\u9996\u5e2d\u5b98 Peter Bauer \u91ab\u5b78\u535a\u58eb\uff0c\u5c07\u91cd\u9ede\u4ecb\u7d39\u591a\u7d44\u5b78\u5728\u5efa\u7acb\u5b8c\u6574\u7684\u81e8\u5e8a\u5716\u666f\u548c\u52a0\u901f\u500b\u6027\u5316\u6cbb\u7642\u65b9\u6848\u65b9\u9762\u7684\u5f37\u5927\u4f5c\u7528\u3002.                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2021-11-30\" pubdate>2021 \u5e74 11 \u6708 30 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/ngs\/\" class=\"cat-link\">NGS<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/multiomics\/\" class=\"cat-link\">\u591a\u9ad4\u5b78<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u8cc7\u6599\u5eab<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/rewrite-the-future-of-rare-diseases-with-multiomics\/\" rel=\"bookmark\" title=\"\u5229\u7528\u591a\u7d44\u5b78\u91cd\u5851\u7f55\u898b\u75be\u75c5\u7684\u672a\u4f86\" class=\"btn btn-2\">\u7acb\u5373\u89c0\u770b<\/a>\r\n\r\n                                <\/div>\r\n                            <\/div>\r\n                        <\/article>\r\n                                    \r\n                    <div class=\"text-center\">\r\n                                            <a href=\"\/tw\/%e8%b3%87%e6%ba%90\/%e7%b6%b2%e8%b7%af%e7%a0%94%e8%a8%8e%e6%9c%83-2\/?topic=wes#webinarsblock\" class=\"btn btn-primary\">\u770b\u66f4\u591a\u7db2\u8def\u7814\u8a0e\u6703<\/a>                        \r\n                                        <\/div>\r\n\r\n                <\/div>                   \r\n\r\n            <\/div>\r\n            \r\n\r\n\r\n                        <div class=\"tab-link\"  id=\"tab-link-publications-811\" >\r\n                <a href=\"#tab-body-publications-811\"  data-id=\"811\">\r\n                    \u79d1\u5b78\u7814\u7a76\u767c\u8868                <\/a>\r\n            <\/div>\r\n\r\n           \r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-publications-811\" >\r\n                <div  class=\"row\">                            <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">\u7a00\u6709\u514d\u75ab\u75be\u75c5\u63ed\u79d8<\/h4>\r\n                                    <p><strong>CBLB\u7d14\u5408\u7a81\u8b8a\u5f15\u8d77\u7684\u514d\u75ab\u5931\u8abf<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1a\u827e\u7433\u2027\u8a79\u68ee                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-08-25\" pubdate>2022\u5e748\u670825\u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u8cc7\u6599\u5eab<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/immunology\/\" class=\"cat-link\">\u514d\u75ab\u5b78<br>Immunology<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36006710\/\" rel=\"bookmark\" title=\"\u7a00\u6709\u514d\u75ab\u75be\u75c5\u63ed\u79d8\" class=\"btn btn-2\" target=\"_blank\">\u95b1\u8b80\u51fa\u7248\u54c1 <\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                                <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">Retrospective Diagnosing of Rare Disease Patients<\/h4>\r\n                                    <p><strong>ASC-1 \u8907\u5408\u9ad4\u529f\u80fd\u7570\u5e38\u65bc\u5148\u5929\u6027\u795e\u7d93\u808c\u8089\u75be\u75c5\u7684\u9032\u4e00\u6b65\u81e8\u5e8a\u8207\u907a\u50b3\u8b49\u64da<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1a\u5b89\u59ae\u7279\u2027\u746a\u840a                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-9\" pubdate>2022 \u5e74 6 \u6708 9 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u8cc7\u6599\u5eab<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35690317\/\" rel=\"bookmark\" title=\"Retrospective Diagnosing of Rare Disease Patients\" class=\"btn btn-2\" target=\"_blank\">\u95b1\u8b80\u51fa\u7248\u54c1 <\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                                <article class=\"col-xl-4 col-md-6 col-12\">\r\n                                <div class=\"item-noticia\">\r\n                                    <div class=\"bl-texto\">       \r\n                \r\n                                    <h4 class=\"bl-titulo\">In-Depth Characterization of a Novel Disease<\/h4>\r\n                                    <p><strong>BUD13 \u7684\u66ff\u4ee3\u6027\u526a\u63a5\uff08Alternative Splicing\uff09\u6c7a\u5b9a\u4f34\u96a8\u8102\u80aa\u71df\u990a\u4e0d\u826f\u8207\u65e9\u8870\u7279\u5fb5\u4e4b\u767c\u80b2\u75be\u75c5\u7684\u56b4\u91cd\u7a0b\u5ea6<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1aBertoli-Avella\uff0cAida M.\uff0c\u91ab\u5b78\u535a\u58eb                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-6\" pubdate>2022 \u5e74 6 \u6708 6 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u8cc7\u6599\u5eab<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wes\/\" class=\"cat-link\">WES<\/a><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35670808\/\" rel=\"bookmark\" title=\"In-Depth Characterization of a Novel Disease\" class=\"btn btn-2\" target=\"_blank\">\u95b1\u8b80\u51fa\u7248\u54c1 <\/a>\r\n                                                                        <\/div>\r\n       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1.5rem;\">\u6211\u5011\u7684\u5168\u7403\u5ba2\u6236\u670d\u52d9\u5718\u968a\u8207\u9818\u57df\u5c08\u5bb6\u5c07\u5168\u7a0b\u63d0\u4f9b\u652f\u63f4\uff0c\u5354\u52a9\u60a8\u5728\u6bcf\u4e00\u6b65\u505a\u51fa\u66f4\u6709\u4fe1\u5fc3\u7684\u6c7a\u7b56\u3002<\/p><a class=\"btn btn-primary\" style=\"margin: .5rem\" href=\"mailto:customer.support@centogene.com\">\u806f\u7d61\u6211\u5011<\/a><a class=\"btn btn-2\" style=\"margin: .5rem\" href=\"https:\/\/www.centogene.com\/tw\/%e9%97%9c%e6%96%bc%e6%88%91%e5%80%91\/%e8%81%af%e7%b5%a1%e6%88%91%e5%80%91\/\">\u5340\u57df\u652f\u63f4<\/a><\/div><\/h2>   \n    <div class=\"row justify-content-center bordesverticales\"> \n        <div class=\"bl-texto col-12 col-md-3\">\n                 <\/div>\n        <div class=\"bl-texto  col-12 col-md-2\">\n          \n        <\/div>\n        <div class=\"bl-texto  col-12 col-md-3\">\n                  <\/div>\n    <\/div>\n  <\/section>  \n\n  \n\n<\/div>\r\n          \r\n                            \r\n   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noopener\">\u7f8e\u570b\u570b\u7acb\u885b\u751f\u7814\u7a76\u9662\u907a\u50b3\u5b78\u548c\u7f55\u898b\u75be\u75c5\u7814\u7a76\u6240 (GARD)<\/a>;&nbsp;<sup>3<\/sup>Cheema \u7b49\u4eba\uff0c2020 \u5e74\uff0cPMID\uff1a33083013\uff1b;&nbsp;<sup>4<\/sup>Clark \u7b49\u4eba\uff0c2018 \u5e74\uff0cPMID\uff1a30002876\uff1b;&nbsp;<sup>5<\/sup>CENTOGENE\u5b58\u6a94\u8cc7\u6599\uff1b;&nbsp;<sup>6<\/sup>Gross \u7b49\u4eba\uff0c2018 \u5e74\uff0cPMID\uff1a30293986\uff1b;&nbsp;<sup>7<\/sup>Posey \u7b49\u4eba\uff0c2019 \u5e74\uff0cPMID\uff1a31234920\uff1b;&nbsp;<sup>8<\/sup>\u820d\u6069\u7b49\u4eba\u3002 2020\u5e74\uff0cPMID\uff1a32674947\uff1b;&nbsp;<sup>9<\/sup>Scuffins \u7b49\u4eba\uff0c2021 \u5e74\uff0cPMID\uff1a33495530\uff1b;<sup>10<\/sup>Stark \u7b49\u4eba\uff0c2016 \u5e74\uff0cPMID\uff1a26938784\uff1b;<sup>11<\/sup>\u7279\u9b6f\u5e0c\u62c9\u8afe\u7b49\u3002 2017\u5e74\uff0cPMID\uff1a27848944\uff1b;<sup>12<\/sup>Wagner \u7b49\u4eba\uff0c2019 \u5e74\uff0cPMID\uff1a31059585\uff1b;&nbsp;<sup>13<\/sup>\u65af\u91cc\u74e6\u65af\u5854\u74e6\u7b49\u4eba\u3002 2019\u5e74\uff0cPMID\uff1a31182824\uff1b;&nbsp;<sup>14<\/sup>&nbsp;Smith \u7b49\u4eba\uff0c2019 \u5e74\uff0cPMID\uff1a29760485\uff1b;<sup>&nbsp;15&nbsp;<\/sup>\u7dad\u745f\u65af\u7b49\u4eba\u3002 2017\u5e74\uff0cPMID\uff1a28333917\uff1b;&nbsp;<sup>16&nbsp;<\/sup>Bowling \u7b49\u4eba\uff0c2017 \u5e74\uff0cPMID\uff1a28554332\uff1b;<sup>&nbsp;17&nbsp;<\/sup>Malinowski \u7b49\u4eba\uff0c2020 \u5e74\uff0cPMID\uff1a32203227\uff1b;&nbsp;<sup>18&nbsp;<\/sup>Trosman \u7b49\u4eba\uff0c2020 \u5e74\uff0cPMID\uff1a31501586\uff09\uff1b;<sup>&nbsp;19&nbsp;<\/sup>Manickham \u7b49\u4eba\uff0c2021 \u5e74\uff0cPMID\uff1a34211152\uff1b;&nbsp;<sup>20&nbsp;<\/sup>\u99ac\u8482\u65af\u7b49\u4eba\u3002 2016\u5e74\uff0cPMID\uff1a2762856\uff1b;<sup>&nbsp;21&nbsp;<\/sup>\u8607\u4ec0\u7b49\u4eba\u3002 2022\u5e74\uff0cPMID\uff1a35577938\uff1b;<sup>&nbsp;22&nbsp;<\/sup>\u62b5\u5236\u7b49\u4eba\u3002 2015\u5e74\uff0cPMID\uff1a25951830\uff09\uff1b;&nbsp;<sup>23&nbsp;<\/sup>Liu \u7b49\u4eba\uff0c2019 \u5e74\uff0cPMID\uff1a31216405\uff1b;&nbsp;<sup>24&nbsp;<\/sup>Wright \u7b49\u4eba\uff0c2018 \u5e74\uff0cPMID\uff1a29323667\uff1b;<sup>&nbsp;25<\/sup>\u81e8\u5e8a\u57fa\u56e0\u7d44\u8cc7\u6e90\u3002.&nbsp;<a href=\"https:\/\/www.clinicalgenome.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">www.clinicalgenome.org<\/a>;&nbsp;<sup>26&nbsp;<\/sup>\u7c73\u52d2\u7b49\u4eba\u3002 2021\u5e74\uff0cPMID\uff1a34012069\uff1b;<sup>&nbsp;27&nbsp;<\/sup>Richards\u7b49\u4eba\uff0c2015\u5e74\uff0cPMID\uff1a25741868\u3002.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<h3 class=\"wp-block-heading\">\u76f8\u95dc\u9023\u7d50<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/tw\/%e8%a8%ba%e6%96%b7\/%e5%a6%82%e4%bd%95%e8%a8%82%e8%b3%bc%e8%88%87%e5%af%84%e9%80%81%e6%aa%a2%e9%ab%94\/\" data-type=\"page\" data-id=\"40\">\u5982\u4f55\u8a02\u8cfc\u6aa2\u6e2c<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/tw\/%e5%89%b5%e6%96%b0\/centocard-%e4%b9%be%e8%a1%80%e9%bb%9e\/\" data-type=\"page\" data-id=\"1453\">\u5982\u4f55\u8a02\u8cfc CentoCard<sup>\u00ae<\/sup><\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/tw\/%e5%89%b5%e6%96%b0\/%e9%86%ab%e5%ad%b8%e5%a0%b1%e5%91%8a\/\" data-type=\"page\" data-id=\"52\">\u91ab\u5b78\u5831\u544a<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":2021,"menu_order":30,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-38","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Whole Exome Sequencing | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centogene.com\/tw\/\u8a3a\u65b7\/\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\/\" \/>\n<meta property=\"og:locale\" content=\"zh_TW\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Whole Exome Sequencing | CENTOGENE\" \/>\n<meta property=\"og:url\" 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