{"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%e6%98%be%e5%ad%90%e7%bb%84%e6%b5%8b%e5%ba%8f","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/zh\/diagnostics\/whole-exome-sequencing\/","title":{"rendered":"\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f"},"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\u663e\u5b50\u7ec4\u6d4b\u5e8f<\/h1>\r\n          <h2 class=\"bl-texto\">CentoXome\u00ae\u2014\u2014\u5316\u7e41\u4e3a\u7b80\uff0c\u5c06\u6570\u5e74\u7f29\u77ed\u81f3\u6570\u5929\u3002\u8bca\u65ad\u4e00\u540d\u7f55\u89c1\u75c5\u60a3\u8005\u901a\u5e38\u9700\u8981\u5927\u7ea67\u5e74\u65f6\u95f4\u3002\u501f\u52a9CentoXome\uff0c\u6211\u4eec\u53ef\u4ee5\u5c06\u8fd9\u6570\u5e74\u7f29\u77ed\u81f3\u6570\u5929\u2014\u2014\u8fd9\u5f97\u76ca\u4e8e\u6211\u4eec\u57fa\u4e8e\u5353\u8d8a\u6280\u672f\u3001\u4e30\u5bcc\u7684\u4e34\u5e8a\u7ecf\u9a8c\u4ee5\u53ca\u5728\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u9886\u57df\u79ef\u7d2f\u7684\u5927\u91cf\u9057\u4f20\u6570\u636e\u800c\u6253\u9020\u7684\u4e1a\u754c\u9886\u5148\u6d1e\u5bdf\u529b\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\">\u8ba2\u8d2d\u6d4b\u8bd5<\/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\/zh\/\">\u5bb6<\/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\u4eec\u589e\u5f3a\u578b\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u670d\u52a1<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES) \u662f\u4e00\u79cd\u5168\u9762\u7684\u57fa\u56e0\u68c0\u6d4b\uff0c\u53ef\u4ee5\u8bc6\u522b\u60a3\u8005 DNA \u4e2d\u4e0e\u75be\u75c5\u76f8\u5173\u7684\u81f4\u75c5\u6216\u81f4\u75c5\u6539\u53d8\u3002WES \u901a\u8fc7\u68c0\u6d4b\u57fa\u56e0\u7ec4\u4e2d\u6240\u6709\u7f16\u7801\u86cb\u767d\u8d28\u7684\u533a\u57df\uff08\u5373\u5916\u663e\u5b50\u7ec4\uff09\uff0c\u4e3a\u60a8\u63d0\u4f9b\u5feb\u901f\u53ef\u9760\u8bca\u65ad\u60a3\u8005\u6240\u9700\u7684\u5168\u9762\u4fe1\u606f\u3002.<\/p>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\"><strong>\u5229\u7528 CentoXome \u514b\u670d\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u8bca\u65ad\u7684\u969c\u788d<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u76ee\u524d\u5df2\u53d1\u73b0 7000 \u591a\u79cd\u7f55\u89c1\u75c5\uff0c\u5176\u4e2d\u7ea6 801 \u79cd\u4e0e\u9057\u4f20\u539f\u56e0\u6709\u5173\uff0c\u56e0\u6b64\u8bca\u65ad\u7f55\u89c1\u75c5\u60a3\u8005\u5f80\u5f80\u5f88\u56f0\u96be\uff0c\u5bfc\u81f4\u6f2b\u957f\u3001\u6602\u8d35\u4e14\u4ee4\u4eba\u60c5\u7eea\u5d29\u6e83\u7684\u8bca\u65ad\u8fc7\u7a0b\u3002.<sup>1,2<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u6709\u4e86\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES)\uff0c\u60c5\u51b5\u5c31\u5b8c\u5168\u4e0d\u540c\u4e86\u3002WES \u5305\u542b\u4e86\u7edd\u5927\u591a\u6570\uff08\u7ea6 851 \u4e2a TP4T\uff09\u5df2\u77e5\u7684\u81f4\u75c5\u7a81\u53d8\uff0c\u80fd\u591f\u4ee5\u66f4\u77ed\u7684\u65f6\u95f4\u548c\u66f4\u4f4e\u7684\u603b\u4f53\u6210\u672c\u63ed\u793a\u7f55\u89c1\u75c5\u7684\u75c5\u56e0\uff0c\u4ece\u800c\u6539\u5584\u60a3\u8005\u7684\u6cbb\u7597\u6548\u679c\u3002CentoXome \u5c06 WES \u63d0\u5347\u5230\u4e86\u65b0\u7684\u9ad8\u5ea6\u3002\u6211\u4eec\u7684\u4ea7\u54c1\u8bbe\u8ba1\u548c\u533b\u5b66\u89e3\u8bfb\u5747\u57fa\u4e8e\u5168\u7403\u6700\u5927\u7684\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u771f\u5b9e\u4e16\u754c\u6570\u636e\u5b58\u50a8\u5e93<a href=\"https:\/\/www.centogene.com\/zh\/%e5%88%9b%e6%96%b0\/%e5%9f%ba%e5%9b%a0%e7%94%9f%e7%89%a9%e6%95%b0%e6%8d%ae%e5%ba%93\/\" data-type=\"page\" data-id=\"50\" target=\"_self\">\u2014\u2014CENTOGENE \u751f\u7269\u6570\u636e\u5e93\uff0c\u65e8\u5728\u901a\u8fc7\u5355\u6b21\u68c0\u6d4b\u63d0\u4f9b\u65e0\u4e0e\u4f26\u6bd4\u7684\u4e34\u5e8a\u8986\u76d6\u8303\u56f4\u548c\u8bca\u65ad\u80fd\u529b\u3002<\/a><\/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\u4f18\u52bf\uff1a<\/strong>&nbsp;\u8bca\u65ad\u590d\u6742\u548c\u7591\u96be\u75c5\u4f8b\u2014\u2014\u901f\u5ea6\u66f4\u5feb\uff0c\u51c6\u786e\u7387\u66f4\u9ad8\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\">\u4e3a\u4ec0\u4e48\u9009\u62e9 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\">\u5c06\u4f60\u7684\u7591\u95ee\u8f6c\u5316\u4e3a\u7b54\u6848<\/h3>\n                            <p>\u7531\u591a\u7ec4\u5b66\u68c0\u6d4b\u9886\u57df\u4e13\u5bb6\u63d0\u4f9b\u7684\u5148\u8fdb\u6280\u672f\uff0c\u53ef\u7528\u4e8e\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u7684\u68c0\u6d4b\uff0c\u5e76\u7ed3\u5408\u5353\u8d8a\u7684\u4e34\u5e8a\u8986\u76d6\u8303\u56f4\u548c\u65e0\u4e0e\u4f26\u6bd4\u7684\u8bca\u65ad\u80fd\u529b\uff0c\u6240\u6709\u68c0\u6d4b\u5747\u53ef\u5728\u4e00\u6b21\u6d4b\u8bd5\u4e2d\u83b7\u5f97\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\">\u5c06\u6211\u4eec\u7684\u4e13\u4e1a\u77e5\u8bc6\u8f6c\u5316\u4e3a\u60a8\u7684\u4f18\u52bf<\/h3>\n                            <p>\u501f\u52a9 CENTOGENE \u7684 CE-IVD \u751f\u7269\u4fe1\u606f\u5b66\u6d41\u7a0b\u548c CENTOGENE \u751f\u7269\u6570\u636e\u5e93\uff0c\u83b7\u53d6\u4e00\u6d41\u7684\u6d1e\u5bdf\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\">\u5c06\u6211\u4eec\u7684\u627f\u8bfa\u8f6c\u5316\u4e3a\u60a8\u7684\u4fdd\u8bc1<\/h3>\n                            <p>\u7531\u4e00\u652f\u81f4\u529b\u4e8e\u6539\u5584\u7f55\u89c1\u75c5\u60a3\u8005\u751f\u6d3b\u7684\u56e2\u961f\u63d0\u4f9b\u7ec8\u8eab\u652f\u6301<\/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\u4e34\u5e8a\u8986\u76d6\u8303\u56f4\u548c\u8bca\u65ad\u80fd\u529b<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome \u7684\u8bbe\u8ba1\u548c\u670d\u52a1\u7531\u5168\u7403\u9886\u5148\u7684\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u8bca\u65ad\u4e13\u5bb6\u548c\u503c\u5f97\u4fe1\u8d56\u7684\u5408\u4f5c\u4f19\u4f34\u63d0\u4f9b\uff0c\u54c1\u8d28\u5353\u8d8a\uff0c\u6027\u80fd\u4f18\u5f02\uff0c\u5728\u5355\u6b21\u68c0\u6d4b\u4e2d\u5373\u53ef\u5b9e\u73b0\u51fa\u8272\u7684\u4e34\u5e8a\u8986\u76d6\u7387\u548c\u65e0\u4e0e\u4f26\u6bd4\u7684\u4e34\u5e8a\u8bca\u65ad\u80fd\u529b\u3002\u7ed3\u5408 CENTOGENE \u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u751f\u7269\u6570\u636e\u5e93\u7684\u6d1e\u89c1\u4ee5\u53ca\u5353\u8d8a\u7684\u7ec4\u5b66\u6280\u672f\uff0c\u8be5\u89e3\u51b3\u65b9\u6848\u76f8\u6bd4\u6807\u51c6 WES \u5177\u6709\u66f4\u9ad8\u7684\u8bca\u65ad\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\">\u4e3b\u8981\u7279\u6027\u53ca\u6027\u80fd<\/th><\/tr><\/thead><tbody><tr><th><strong>\u5e7f\u6cdb\u4e14\u5747\u5300\u7684\u5916\u663e\u5b50\u7ec4\u548c\u7ebf\u7c92\u4f53\u57fa\u56e0\u7ec4\u8986\u76d6<\/strong><\/th><td>\u6574\u4e2a\u5916\u663e\u5b50\u7ec4\uff08\u7ea620,000\u4e2a\u57fa\u56e0\uff09\u3001\u00b110 bp\u5916\u663e\u5b50-\u5185\u542b\u5b50\u8fb9\u754c\u4ee5\u53ca\u5b8c\u6574\u7684\u7ebf\u7c92\u4f53\u57fa\u56e0\u7ec4\uff0837\u4e2a\u57fa\u56e0\uff09\u5747\u5f97\u5230\u9ad8\u5ea6\u5747\u5300\u7684\u8986\u76d6\uff0c\u226598\u4e2a%\u9776\u533a\u57df\u7684\u8986\u76d6\u5ea6\u226520\u500d\u3002<\/td><\/tr><tr><th><strong>\u52a0\u5f3a\u5bf9\u4e34\u5e8a\u76f8\u5173\u533a\u57df\u7684\u8986\u76d6<\/strong><\/th><td class=\"translation-block\">\u589e\u5f3a\u4e86\u75be\u75c5\u76f8\u5173\u57fa\u56e0\uff08 <sup>OMIM\u00ae<\/sup> \u3001 <sup>HGMD\u00ae<\/sup> \u3001CENTOGENE \u751f\u7269\u6570\u636e\u5e93\uff09\u7684\u8986\u76d6\u5ea6\uff0c\u2265 99 \u4e2a % \u9776\u533a\u8986\u76d6\u5ea6\u2265 20 \u500d\uff1b\u589e\u5f3a\u4e86\u7f16\u7801\u533a\u548c\u975e\u7f16\u7801\u533a\u5df2\u77e5\u4e34\u5e8a\u76f8\u5173\u53d8\u5f02\u7684\u8986\u76d6\u5ea6\uff08 <sup>HGMD\u00ae<\/sup> \u3001ClinVar\u3001CENTOGENE \u751f\u7269\u6570\u636e\u5e93\uff09\u3002<\/td><\/tr><tr><th><strong>\u9ad8\u7ea7\u4e14\u7075\u654f\u7684\u53d8\u5f02\u68c0\u6d4b<\/strong><\/th><td>\u68c0\u6d4b\u5355\u6838\u82f7\u9178\u53d8\u5f02 (SNV)\u3001\u63d2\u5165\u7f3a\u5931 (InDel)\u3001\u7ed3\u6784\u53d8\u5f02 (SV)\uff0c\u5305\u62ec\u4ece\u5916\u663e\u5b50\u6c34\u5e73\u5230\u7ec6\u80de\u57fa\u56e0\u7ec4\u6c34\u5e73\u7684\u62f7\u8d1d\u6570\u53d8\u5f02 (CNV)\uff0c\u4ee5\u53ca\u5177\u6709\u5f02\u8d28\u6027\u7684\u7ebf\u7c92\u4f53DNA (mtDNA) \u2265 15 % \u7075\u654f\u5ea6 SNV \u548c\u63d2\u5165\u7f3a\u5931 (InDel) (\u2264 50 bp) &gt; 99.6 % CNV<sup>*<\/sup>&gt; 95.0 %\u7279\u5f02\u6027 &gt; 99.9 %\u5bf9\u6240\u6709\u5df2\u62a5\u544a\u7684\u53d8\u5f02\u4f53\u5747\u6709\u4fdd\u8bc1<sup>**<\/sup>UPD\u68c0\u6d4b<sup>***<\/sup>&nbsp;\u9488\u5bf9\u4ee5\u4e0b\u5df2\u77e5\u7684\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u67d3\u8272\u4f53\u533a\u57df\uff1a6q24\u30017\u300111p15.5\u300114q32\u300115q11q13\u300120q13 \u548c 20<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><strong>SNV\uff1a<\/strong>&nbsp;\u5355\u6838\u82f7\u9178\u53d8\u5f02\uff1b;&nbsp;<strong>\u63d2\u5165\u7f3a\u5931\uff1a<\/strong>&nbsp;\u5c0f\u5e45\u63d2\u5165\/\u5220\u9664\uff1b;&nbsp;<strong>CNV\uff1a<\/strong>&nbsp;\u62f7\u8d1d\u7f16\u53f7\u53d8\u4f53\uff1b;&nbsp;<strong>\u66f4\u65b0<\/strong>\u5355\u4eb2\u4e8c\u4f53\uff1b;&nbsp;<strong>\u7ebf\u7c92\u4f53DNA\uff1a<\/strong>&nbsp;\u7ebf\u7c92\u4f53DNA\u3002.<br>* CNV \u68c0\u6d4b\u8f6f\u4ef6\u7075\u654f\u5ea6 &gt; 95 %\uff1b\u4f46\u662f\uff0c\u5bf9\u4e8e\u91cd\u590d\u548c\u540c\u6e90\u533a\u57df\uff08\u5982\u5047\u57fa\u56e0\uff09\u4ee5\u53ca\u8de8\u8d8a\u4e24\u4e2a\u6216\u66f4\u5c11\u5916\u663e\u5b50\u7684\u4e8b\u4ef6\uff0c\u8fd9\u79cd\u7075\u654f\u5ea6\u53ef\u80fd\u4f1a\u964d\u4f4e\u3002.<br>** \u8d28\u91cf\u4f4e\u4e0b\u548c\/\u6216\u5408\u5b50\u6027\u4e0d\u660e\u786e\u7684\u53d8\u5f02\u901a\u8fc7\u6b63\u4ea4\u65b9\u6cd5\u8fdb\u884c\u786e\u8ba4\uff1aSNV \u548c InDel \u901a\u8fc7 Sanger \u6d4b\u5e8f\u8fdb\u884c\u786e\u8ba4\uff1bCNV \u901a\u8fc7\u591a\u91cd\u8fde\u63a5\u4f9d\u8d56\u6027\u63a2\u9488\u6269\u589e (MPLA)\u3001\u5b9a\u91cf\u805a\u5408\u9176\u94fe\u5f0f\u53cd\u5e94 (qPCR) \u6216\u67d3\u8272\u4f53\u5fae\u9635\u5217 (CMA) \u8fdb\u884c\u786e\u8ba4\u3002.<br>*** \u91c7\u7528\u5185\u90e8\u5f00\u53d1\u7684\u5b5f\u5fb7\u5c14\u9057\u4f20\u9519\u8bef\uff08MIE\uff09\u7b97\u6cd5\u8fdb\u884c\u5355\u4eb2\u4e8c\u4f53\uff08UPD\uff09\u7b5b\u67e5\uff0c\u4ee5\u68c0\u6d4b\u5df2\u77e5\u7684\u4e34\u5e8a\u76f8\u5173\u67d3\u8272\u4f53\u533a\u57df\u7684\u7eaf\u5408\u6027\u7247\u6bb5\uff08ROH\uff09\u3002\u5fc5\u8981\u65f6\uff0c\u4fdd\u8bc1\u4f7f\u7528\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u8fdb\u884c\u5185\u90e8\u786e\u8ba4\u68c0\u6d4b\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\u65f6\u5efa\u8bae\u4f7f\u7528WES\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome \u4e3a\u8bca\u65ad\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u63d0\u4f9b\u4e86\u4e00\u79cd\u5feb\u901f\u4e14\u7ecf\u6d4e\u9ad8\u6548\u7684\u89e3\u51b3\u65b9\u6848\uff0c\u53ef\u4f5c\u4e3a\u4e00\u7ebf\u548c\u4e8c\u7ebf\u68c0\u6d4b\u65b9\u6cd5\uff0c\u7528\u4e8e\u8bc6\u522b\u7591\u4f3c\u9057\u4f20\u75be\u75c5\u6216\u5148\u524d\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u4e3a\u9634\u6027\u7684\u60a3\u8005\u7684\u5206\u5b50\u8bca\u65ad\u3002.<sup>3, 5, 11<\/sup>&nbsp;\u6b64\u5916\uff0c\u5b83\u8fd8\u53ef\u4ee5\u63d0\u4f9b\u4e00\u79cd\u7ecf\u6d4e\u6709\u6548\u7684\u66ff\u4ee3\u65b9\u6848\uff0c\u53d6\u4ee3\u591a\u79cd\u72ec\u7acb\u7684\u5206\u5b50\u68c0\u6d4b\uff0c\u4ece\u800c\u7b80\u5316\u8bca\u65ad\u8fc7\u7a0b\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f20\u7edf\u4e0a\uff0c\u5f53\u60a3\u8005\u8868\u73b0\u51fa\u590d\u6742\u3001\u5f02\u8d28\u6027\u7684\u8868\u578b\uff0c\u63d0\u793a\u53ef\u80fd\u60a3\u6709\u591a\u79cd\u75be\u75c5\uff0c\u6216\u65e2\u5f80\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u4e0d\u660e\u786e\u65f6\uff0c\u5efa\u8bae\u8fdb\u884c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09\u3002\u8fd1\u5e74\u6765\uff0cWES\u5728\u4e34\u5e8a\u5b9e\u8df5\u4e2d\u7684\u5e94\u7528\u663e\u8457\u589e\u52a0\uff0c\u8d85\u8fc7\u4e86\u5355\u57fa\u56e0\u68c0\u6d4b\u3001\u4e8c\u4ee3\u6d4b\u5e8f\uff08NGS\uff09panel\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u7b49\u6807\u51c6\u57fa\u56e0\u68c0\u6d4b\u65b9\u6cd5\u3002.<sup>4\u300110\u300113-15&nbsp;<\/sup>\u6b64\u5916\uff0c\u8d8a\u6765\u8d8a\u591a\u7684\u8bc1\u636e\u8868\u660e\uff0c\u4f7f\u7528 WGS\/WES \u4f5c\u4e3a\u4e00\u7ebf\u68c0\u6d4b\u65b9\u6cd5\u5177\u6709\u7ecf\u6d4e\u4ef7\u503c\u3002.<sup>16\u201318<\/sup>&nbsp;\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a (ACMG) \u548c\u5176\u4ed6\u533b\u5b66\u534f\u4f1a\u7684\u6307\u5357\u5efa\u8bae\uff0c\u5f53\u60a3\u8005\u7684\u75c7\u72b6\u6216\u5bb6\u65cf\u53f2\u8868\u660e\u75be\u75c5\u662f\u7531\u9057\u4f20\u539f\u56e0\u5f15\u8d77\u65f6\uff0c\u5e94\u5c06\u5916\u663e\u5b50\u7ec4\/\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u4f5c\u4e3a\u4e00\u7ebf\u6216\u4e8c\u7ebf\u8bca\u65ad\u6d4b\u8bd5\u3002.<sup>19-22&nbsp;<\/sup>\u6b64\u5916\uff0cWES \u7684\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u6709\u52a9\u4e8e\u66f4\u5feb\u5730\u8bca\u65ad\u75be\u75c5\u3001\u66f4\u597d\u5730\u9884\u9632\u6709\u75c7\u72b6\u7684\u75be\u75c5\u3001\u66f4\u6709\u9488\u5bf9\u6027\u7684\u6cbb\u7597\uff0c\u751a\u81f3\u53ef\u4ee5\u907f\u514d\u4e00\u4e9b\u6602\u8d35\u6216\u6709\u521b\u7684\u624b\u672f\u3002.<sup>10 ,14, 15, 19, 23<\/sup><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>\u6211\u4eec\u7279\u522b\u63a8\u8350 CentoXome \u7528\u4e8e\u4ee5\u4e0b\u60a3\u8005\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\u975e\u5e38\u5e7f\u6cdb\u3001\u590d\u6742\u6216\u4e0d\u5178\u578b\uff0c\u65e0\u6cd5\u6307\u5411\u7279\u5b9a\u75be\u75c5\u6216\u5178\u578b\u8868\u578b\u3002<br>\u4f8b\u5982\uff0c\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u766b\u75eb\u60a3\u8005<\/li>\n\n\n\n<li>\u6000\u7591\u5b58\u5728\u67d3\u8272\u4f53\u4e0d\u5e73\u8861\u3001\u5fae\u7f3a\u5931\u6216\u5fae\u91cd\u590d\u7efc\u5408\u5f81<br>\u4f8b\u5982\uff0c\u60a3\u6709\u5168\u9762\u53d1\u80b2\u8fdf\u7f13\u548c\/\u6216\u591a\u53d1\u6027\u5148\u5929\u6027\u5f02\u5e38\u7684\u513f\u7ae5\uff0c\u4ee5\u53ca\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81\u60a3\u8005\u3002<\/li>\n\n\n\n<li>\u4e34\u5e8a\u6000\u7591\u7ebf\u7c92\u4f53\u75be\u75c5<br>\u4f8b\u5982\uff0c\u60a3\u6709\u808c\u8089\u65e0\u529b\u3001\u5fc3\u808c\u75c5\u3001\u89c6\u529b\u95ee\u9898\u7684\u60a3\u8005<\/li>\n\n\n\n<li>\u65b0\u751f\u513f\u671f\u6216\u513f\u7ae5\u671f\u75c5\u60c5\u4e25\u91cd<br>\u4f8b\u5982\uff0c\u65b0\u751f\u513f\u91cd\u75c7\u76d1\u62a4\u5ba4\uff08NICU\uff09\u548c\u513f\u79d1\u91cd\u75c7\u76d1\u62a4\u5ba4\uff08PICU\uff09\u4e2d\u7684\u65b0\u751f\u513f\u548c\u5371\u91cd\u5a74\u513f\u3002<\/li>\n\n\n\n<li>\u4e4b\u524d\u7684\u57fa\u56e0\u68c0\u6d4b\u672a\u80fd\u63d0\u4f9b\u660e\u786e\u7684\u8bca\u65ad\u7ed3\u679c\u3002<br>\u4f8b\u5982\uff0c\u60a3\u6709\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u7684\u60a3\u8005\uff0c\u5176\u5144\u5f1f\u59d0\u59b9\u4e5f\u53d7\u7c7b\u4f3c\u5f71\u54cd\uff0c\u4e14\u5fae\u9635\u5217\u68c0\u6d4b\u7ed3\u679c\u4e3a\u9634\u6027\u3002<\/li>\n\n\n\n<li>\u9700\u8981\u4e00\u79cd\u7ecf\u6d4e\u5b9e\u60e0\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08WGS\uff09\u66ff\u4ee3\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\">CentoXome \u53ef\u4ee5\u5e2e\u52a9\u60a8\u5e94\u5bf9<br>\u7591\u96be\u6742\u75c7\u4e14\u672a\u786e\u8bca\u7684\u60a3\u8005<br>\u6db5\u76d6\u751f\u547d\u5404\u4e2a\u9636\u6bb5\u7684\u75c5\u4f8b<br>\u6db5\u76d6\u591a\u79cd\u75be\u75c5<br>\u6db5\u76d6\u8d85\u8fc77000\u79cd\u7f55\u89c1\u75be\u75c5<\/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-16\">\r\n<h2 class=\"text-center mt-0\"> \u76f8\u5173\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-16\" >\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=\"\u5229\u7528 CentoXome\u00ae \u8bc6\u522b\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u5185\u542b\u5b50\u53d8\u5f02\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">\u5229\u7528 CentoXome\u00ae \u8bc6\u522b\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u5185\u542b\u5b50\u53d8\u5f02<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u5728\u6240\u9644\u6848\u4f8b\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u5148\u8fdb\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u89e3\u51b3\u65b9\u6848 CentoXome \u6210\u529f\u786e\u8bca\u4e86\u4e00\u540d 14 \u5c81\u5973\u5b69\u7684\u7591\u96be\u6742\u75c7\u2014\u2014\u5c3d\u7ba1\u8be5\u75c5\u4f8b\u590d\u6742\uff0c\u4e14\u5176\u4ed6\u5b9e\u9a8c\u5ba4\u7684\u5206\u6790\u5747\u544a\u5931\u8d25\u3002CENTOGENE \u901a\u8fc7\u68c0\u6d4b\u5df2\u77e5\u7684\u81f4\u75c5\u6027\u3001\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u5185\u542b\u5b50\u53d8\u5f02\uff0c\u4e3a\u8fd9\u4f4d\u5973\u5b69\u53ca\u5176\u5bb6\u4eba\u5e26\u6765\u4e86\u5e0c\u671b\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\u8f7d<\/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=\"\u8bc6\u522b\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u7ebf\u7c92\u4f53\u53d8\u5f02\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">\u8bc6\u522b\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u7ebf\u7c92\u4f53\u53d8\u5f02<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u901a\u8fc7\u4f7f\u7528\u6211\u4eec\u5168\u65b0\u7814\u53d1\u7684 CentoXome \u6280\u672f\u2014\u2014\u589e\u5f3a\u578b\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES)\uff0c\u6211\u4eec\u4e3a\u4e00\u4f4d 20 \u5c81\u7684\u5973\u6027\u53ca\u5176\u5bb6\u4eba\u627e\u5230\u4e86\u7b54\u6848\u3002\u8bf7\u67e5\u770b\u6211\u4eec\u7684\u6848\u4f8b\u7814\u7a76\uff0c\u4e86\u89e3\u6211\u4eec\u5982\u4f55\u5e2e\u52a9\u8fd9\u4f4d\u5e74\u8f7b\u7684\u7f55\u89c1\u75c5\u60a3\u8005\u7f29\u77ed\u4e86\u6f2b\u957f\u7684\u8bca\u65ad\u8fc7\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\u8f7d<\/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=\"\u5229\u7528 CentoXome \u63ed\u793a\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u5355\u4eb2\u4e8c\u4f53\u6027\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">\u5229\u7528 CentoXome \u63ed\u793a\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u5355\u4eb2\u4e8c\u4f53\u6027<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u5229\u7528\u6211\u4eec\u5148\u8fdb\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES) \u5206\u6790\u6280\u672f CentoXome\uff0c\u6211\u4eec\u6210\u529f\u4e3a\u4e00\u540d 6 \u4e2a\u6708\u5927\u7537\u5a74\u7684\u5bb6\u4eba\u786e\u8bca\u3002\u8bf7\u67e5\u770b\u6211\u4eec\u7684\u6848\u4f8b\u7814\u7a76\uff0c\u4e86\u89e3\u6211\u4eec\u5982\u4f55\u5229\u7528 CentoXome \u4e3a\u8fd9\u4e2a\u5bb6\u5ead\u63d0\u4f9b\u4ed6\u4eec\u6240\u5bfb\u6c42\u7684\u7b54\u6848\u2014\u2014CentoXome \u5728\u4e00\u6b21\u68c0\u6d4b\u4e2d\u5373\u53ef\u63d0\u4f9b\u65e0\u4e0e\u4f26\u6bd4\u7684\u4e34\u5e8a\u8986\u76d6\u8303\u56f4\u548c\u8bca\u65ad\u80fd\u529b\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\u8f7d<\/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-16 .tab-body\").first().addClass(\"active\");\r\n    jQuery(\"#tabs-group-16 .tab-link\").first().addClass(\"active\");    \r\n    jQuery(\"#tabs-group-16 .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-16 .tab-body\").hide();\r\n        jQuery(\"#tabs-group-16 .tab-body\").removeClass(\"active\");\r\n        jQuery(\"#tabs-group-16 .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\">\u5b9a\u5236\u5316\u68c0\u6d4b\u548c\u7ec8\u8eab\u8bca\u65ad\u652f\u6301&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u6211\u4eec\u63d0\u4f9b\u7075\u6d3b\u7684\u68c0\u6d4b\u9009\u9879\u548c\u9644\u52a0\u670d\u52a1\uff0c\u4ee5\u63d0\u4f9b\u6839\u636e\u60a8\u7684\u60a3\u8005\u9700\u6c42\u91cf\u8eab\u5b9a\u5236\u7684 CentoXome \u5206\u6790\uff0c\u4f8b\u5982\uff0c\u9488\u5bf9\u80ce\u513f\u5f02\u5e38\u7684\u6301\u7eed\u598a\u5a20\u8fdb\u884c WES \u4ee5\u8fdb\u884c\u4ea7\u524d\u8bca\u65ad\uff08CentoXome Prenatal\uff09\uff0c\u4ee5\u53ca\u6211\u4eec\u7684\u591a\u7ec4\u5b66 WES \u89e3\u51b3\u65b9\u6848\uff08CentoXome MOx 1.0 \u548c 2.0\uff09\uff0c\u6574\u5408\u4e86\u4e0d\u540c\u7684\u6570\u636e\u96c6\uff0c\u662f\u65e9\u671f\u8bca\u65ad\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u7684\u9ad8\u6548\u5de5\u5177\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome\u81f4\u529b\u4e8e\u6539\u5584\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u60a3\u8005\u7684\u751f\u6d3b\uff0c\u63d0\u4f9b\u7ec8\u8eab\u8bca\u65ad\u652f\u6301\uff0c\u5305\u62ec\u514d\u8d39\u4e14\u79ef\u6781\u7684\u91cd\u65b0\u5206\u7c7b\u8ba1\u5212\uff0c\u4ee5\u53ca\u5728\u7ed3\u679c\u4e0d\u786e\u5b9a\u6216\u9634\u6027\u65f6\u63d0\u4f9b\u4ef7\u683c\u5408\u7406\u7684\u4e2a\u6848\u7ea7\u91cd\u65b0\u5206\u6790\u3002\u7531\u4e8e\u65b0\u57fa\u56e0\u75be\u75c5\u53d1\u73b0\u7684\u5feb\u901f\u53d1\u5c55\uff0c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09\u7684\u8bca\u65ad\u7387\u6301\u7eed\u63d0\u9ad8\uff0c\u636e\u4f30\u8ba1\uff0c\u901a\u8fc7\u91cd\u65b0\u5206\u7c7b\u548c\u57fa\u56e0\u7ec4\u6570\u636e\u91cd\u65b0\u5206\u6790\uff0c\u6bcf\u5e74\u53ef\u786e\u8bca\u7ea610-201\u4f8b\u672a\u786e\u8bca\u60a3\u8005\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\">\u9009\u9879\u548c\u9644\u52a0\u670d\u52a1<\/th><\/tr><\/thead><tbody><tr><th colspan=\"2\"><strong>\u6d4b\u8bd5\u8bbe\u8ba1<sup>*<\/sup><\/strong><\/th><td colspan=\"2\">Solo\u3001Duo\u3001Trio \u548c PLUS \u7ebf\u7c92\u4f53\u57fa\u56e0\u7ec4\u5206\u6790\u4ec5\u9488\u5bf9\u5148\u8bc1\u8005\u53ca\u5176\u6bcd\u4eb2\u6837\u672c\u8fdb\u884c\u3002<\/td><\/tr><tr><th rowspan=\"5\"><strong>\u6d4b\u8bd5\u89e3\u51b3\u65b9\u6848<\/strong><\/th><th><strong>CentoXome<\/strong><\/th><td colspan=\"2\">\u7528\u4e8e\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u4ea7\u540e\u8bca\u65ad\u68c0\u6d4b\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES) \u5468\u8f6c\u65f6\u95f4\uff1a\u2264 30 \u4e2a\u5de5\u4f5c\u65e5<\/td><\/tr><tr><th><strong>CentoXome MOx<sup>**<\/sup><\/strong><\/th><td colspan=\"2\">CentoXome MOx 1.0 \u548c 2.0 \u662f\u4e00\u6b3e\u591a\u7ec4\u5b66\u5355\u6b21\u68c0\u6d4b\u89e3\u51b3\u65b9\u6848\uff0c\u6574\u5408\u4e86\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES)\u3001\u751f\u5316\u68c0\u6d4b\u548c\/\u6216 RNA \u6d4b\u5e8f\uff0c\u7528\u4e8e\u68c0\u6d4b\u526a\u63a5\u53d8\u5f02\u3002\u8be5\u65b9\u6848\u9002\u7528\u4e8e\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u7684\u4ea7\u540e\u68c0\u6d4b\u3002CentoXome MOx 1.0 \u7684\u68c0\u6d4b\u5468\u671f\uff1a\u2264 30 \u4e2a\u5de5\u4f5c\u65e5\uff1bCentoXome MOx 2.0 \u7684\u68c0\u6d4b\u5468\u671f\uff1a\u2264 35 \u4e2a\u5de5\u4f5c\u65e5\u3002<\/td><\/tr><tr><th><strong>CentoXome \u4ea7\u524d<sup>***<\/sup><\/strong><\/th><td colspan=\"2\">\u5f53\u8d85\u58f0\u68c0\u67e5\u53d1\u73b0\u80ce\u513f\u7ed3\u6784\u5f02\u5e38\uff0c\u6216\u5e38\u89c4\u4ea7\u524d\u65b9\u6cd5\u65e0\u6cd5\u786e\u8bca\u65f6\uff0c\u53ef\u8fdb\u884c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09\u7528\u4e8e\u4ea7\u524d\u8bca\u65ad\uff08\u598a\u5a20\u4e2d\uff09\u3002\u8be5\u68c0\u6d4b\u63d0\u4f9b\u5feb\u901f\u4f18\u5148\u5904\u7406\uff0c\u5305\u62ec\u7ec6\u80de\u57f9\u517b\u548c\u6bcd\u4f53\u7ec6\u80de\u6c61\u67d3\uff08MCC\uff09\u5206\u6790\u3002\u5468\u8f6c\u65f6\u95f4\uff1a\u2264 15 \u4e2a\u5de5\u4f5c\u65e5<\/td><\/tr><tr><th><strong>CentoXome \u6982\u5ff5\u9a8c\u8bc1<sup>***<\/sup><\/strong><\/th><td colspan=\"2\">\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES) \u7528\u4e8e\u8bca\u65ad\u6027\u68c0\u6d4b\u598a\u5a20\u4ea7\u7269\uff08\u598a\u5a20\u4e22\u5931\uff09\uff0c\u9002\u7528\u4e8e\u5bab\u5185\u80ce\u513f\u6b7b\u4ea1\u6216\u6b7b\u4ea7\u7684\u60c5\u51b5\uff0c\u4ee5\u66f4\u597d\u5730\u4e86\u89e3\u80ce\u513f\u4e22\u5931\u7684\u539f\u56e0\u548c\u590d\u53d1\u98ce\u9669\uff0c\u6216\u5728\u5e38\u89c4\u65b9\u6cd5\u65e0\u6cd5\u83b7\u5f97\u8bca\u65ad\u65f6\u4f7f\u7528\u3002\u5305\u62ec\u7ec6\u80de\u57f9\u517b\u548c MCC \u5206\u6790\u3002\u5468\u8f6c\u65f6\u95f4\uff1a\u2264 30 \u4e2a\u5de5\u4f5c\u65e5<\/td><\/tr><tr><th><strong>CentoXome \u53d8\u5f02<\/strong><\/th><td colspan=\"2\">WES\u539f\u59cb\u6570\u636e\u548c\u5904\u7406\u540e\u7684\u6570\u636e\uff08FASTQ\u3001BAM\u548cVCF\u683c\u5f0f\u7684\u6587\u4ef6\uff0c\u4ee5\u53caXLS\u683c\u5f0f\u7684\u8fc7\u6ee4\u548c\u6ce8\u91ca\u540e\u7684\u53d8\u5f02\u6587\u4ef6\uff09\u53ef\u4f9b\u8fdb\u4e00\u6b65\u7814\u7a76\uff0c\u53ef\u901a\u8fc7CentoPortal\u514d\u8d39\u4e0b\u8f7d\uff0c\u6709\u6548\u671f\u4e3a30\u5929\u3002\u5904\u7406\u65f6\u95f4\uff1a\u2264 20\u4e2a\u5de5\u4f5c\u65e5\u3002<\/td><\/tr><tr><th rowspan=\"2\"><strong>\u5176\u4ed6\u9009\u9879<\/strong><\/th><th><strong>\u5feb\u901f\u5904\u7406<\/strong><\/th><td colspan=\"2\">\u2264 15 \u4e2a\u5de5\u4f5c\u65e5\uff08\u4e0d\u9002\u7528\u4e8e CentoXome MOx 2.0\uff09<\/td><\/tr><tr><th><strong>\u514d\u8d39\u539f\u59cb\u6570\u636e<\/strong><\/th><td colspan=\"2\">\u6240\u6709\u9644\u5e26\u533b\u7597\u62a5\u544a\u7684\u68c0\u6d4b\u65b9\u6848\u5747\u63d0\u4f9b\u539f\u59cb\u6570\u636e\u548c\u5904\u7406\u540e\u7684\u6570\u636e\u4e24\u79cd\u9009\u62e9\u3002\u8fd9\u4e9b\u6570\u636e\u5305\u62ec FASTQ\u3001BAM \u548c VCF \u683c\u5f0f\u7684\u6587\u4ef6\uff0c\u4ee5\u53ca\u7ecf\u8fc7\u7b5b\u9009\u548c\u6ce8\u91ca\u7684 XLS \u683c\u5f0f\u53d8\u5f02\u6587\u4ef6\u3002\u8fd9\u4e9b\u6570\u636e\u53ef\u901a\u8fc7 CentoPortal \u514d\u8d39\u4e0b\u8f7d\uff0c\u6709\u6548\u671f\u4e3a 30 \u5929\u3002<\/td><\/tr><tr><th colspan=\"2\">\u7ec8\u8eab\u8bca\u65ad\u652f\u6301<sup>****<\/sup><\/th><td colspan=\"2\">\u4e3b\u52a8\u8fdb\u884c\u53d8\u5f02\u4f53\u7ea7\u522b\u7684\u91cd\u65b0\u5206\u7c7b\uff1b\u514d\u8d39\u63d0\u4f9b\u91cd\u65b0\u5206\u7c7b\u62a5\u544a\uff1b\u9488\u5bf9\u4e0d\u786e\u5b9a\/\u9634\u6027\u7ed3\u679c\uff08\u4f8b\u5982\uff0c\u65b0\u7684\u4e34\u5e8a\u4fe1\u606f\u3001\u4e00\u5e74\u95f4\u9694\uff09\u8fdb\u884c\u75c5\u4f8b\u7ea7\u522b\u7684\u91cd\u65b0\u5206\u6790\uff0c\u8d39\u7528\u5408\u7406\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>\u5468\u8f6c\u65f6\u95f4<br>*<strong>\u5355\u4eba\u68c0\u6d4b\uff1a<\/strong>\u4ec5\u5bf9\u53d7\u5f71\u54cd\u7684\u6307\u6807\u60a3\u8005\u8fdb\u884c\u68c0\u6d4b\uff1b<strong>\u53cc\u4eba<\/strong>\u68c0\u6d4b\uff1a\u5bf9\u6307\u6807\u60a3\u8005\u548c\u53d7\u5f71\u54cd\u6216\u672a\u53d7\u5f71\u54cd\u7684\u5bb6\u5ead\u6210\u5458\u8fdb\u884c\u68c0\u6d4b\uff1b<strong>\u4e09\u4eba<\/strong>\u68c0\u6d4b\uff1a\u5bf9\u6307\u6807\u60a3\u8005\u548c\u4e24\u540d\u5bb6\u5ead\u6210\u5458\uff08\u53d7\u5f71\u54cd\u6216\u672a\u53d7\u5f71\u54cd\uff09\u8fdb\u884c\u68c0\u6d4b\uff1b <strong>PLUS \u68c0\u6d4b\uff1a<\/strong>\u5728\u4e09\u4eba\u68c0\u6d4b\u7684\u57fa\u7840\u4e0a\uff0c\u518d\u5bf9\u4e00\u540d\u5bb6\u5ead\u6210\u5458\u8fdb\u884c\u68c0\u6d4b\u3002<br> **\u66f4\u591a\u5173\u4e8e\u6211\u4eec<a href=\"https:\/\/www.centogene.com\/zh\/%e8%af%8a%e6%96%ad\/%e5%a4%9a%e7%bb%84%e5%ad%a6%e8%a7%a3%e5%86%b3%e6%96%b9%e6%a1%88\/\" data-type=\"page\" data-id=\"1419\" target=\"_self\">\u591a\u7ec4\u5b66\u89e3\u51b3\u65b9\u6848\u7684<\/a>\u8be6\u7ec6\u4fe1\u606f\u3002<br> *** \u7531\u4e8e\u6280\u672f\u9650\u5236\uff0c\u6211\u4eec\u76ee\u524d\u4e0d\u63d0\u4f9b\u57fa\u4e8e\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08WES\uff09\u7684\u7ebf\u7c92\u4f53\u57fa\u56e0\u7ec4\u5206\u6790\u548c\u5355\u4eb2\u4e8c\u4f53\uff08UPD\uff09\u7b5b\u67e5\u3002\u66f4\u591a<a href=\"https:\/\/www.centogene.com\/zh\/%e8%af%8a%e6%96%ad\/prenatal-genetic-testing\/\" data-type=\"page\" data-id=\"1423\" target=\"_self\">\u4ea7\u524d\u68c0\u6d4b<\/a>\u8be6\u60c5\uff0c\u656c\u8bf7\u5173\u6ce8\u3002<br> **** \u75c5\u4f8b\u91cd\u65b0\u5206\u6790\u4ec5\u9002\u7528\u4e8e 2020 \u5e74 8 \u6708\u53ca\u4e4b\u540e\u63d0\u4ea4\u7684\u5305\u542b\u539f\u59cb\u6d4b\u5e8f\u6570\u636e\u7684\u8ba2\u5355\u3002\u66f4\u591a\u8be6\u60c5\u8bf7\u53c2\u9605<a href=\"https:\/\/www.centogene.com\/zh\/%e5%88%9b%e6%96%b0\/%e5%8f%98%e5%bc%82%e4%bd%93%e9%87%8d%e6%96%b0%e5%88%86%e7%b1%bb\/\" data-type=\"page\" data-id=\"1451\" target=\"_self\">\u53d8\u5f02\u91cd\u5206\u7c7b\u8ba1\u5212<\/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\">\u6765\u81ea\u7f55\u89c1\u75c5\u548c\u795e\u7ecf\u9000\u884c\u6027\u75be\u75c5\u8bca\u65ad\u9886\u57df\u9886\u5bfc\u8005\u548c\u503c\u5f97\u4fe1\u8d56\u7684\u5408\u4f5c\u4f19\u4f34\u7684\u5353\u8d8a\u6d1e\u5bdf\u529b&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u9009\u62e9\u6211\u4eec\u7684\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES) \u670d\u52a1\uff0c\u533b\u751f\u3001\u60a3\u8005\u548c\u5408\u4f5c\u4f19\u4f34\u53ef\u4ee5\u653e\u5fc3\uff0c\u4ed6\u4eec\u5c06\u83b7\u5f97\u9ad8\u8d28\u91cf\u7684\u6d4b\u5e8f\u7ed3\u679c\uff0c\u4ee5\u53ca\u4e00\u6d41\u7684\u6570\u636e\u5206\u6790\u548c\u89e3\u8bfb\uff0c\u6240\u6709\u4fe1\u606f\u90fd\u5c06\u8bb0\u5f55\u5728\u5168\u9762\u7684\u533b\u7597\u62a5\u544a\u4e2d\u3002CENTOGENE \u5229\u7528\u6211\u4eec\u83b7\u5f97 CE-IVD \u8ba4\u8bc1\u7684\u751f\u7269\u4fe1\u606f\u5b66\u6d41\u7a0b\uff0c\u5c06\u6df1\u5ea6\u8868\u578b\u6570\u636e\u4e0e\u57fa\u56e0\u578b\u6570\u636e\u76f8\u7ed3\u5408\uff0c\u4ece\u800c\u7cbe\u51c6\u8bc6\u522b\u81f4\u75c5\u53d8\u5f02\uff0c\u63d0\u4f9b\u4e00\u6d41\u7684\u4e34\u5e8a\u62a5\u544a\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CentoXome\u59cb\u7ec8\u63d0\u4f9b\u57fa\u4e8e\u6211\u4eec\u4e34\u5e8a\u89e3\u8bfb\u4e13\u957f\u7684\u533b\u5b66\u62a5\u544a\u3001\u6765\u81ea\u6211\u4eec\u751f\u7269\u6570\u636e\u5e93\u4e2d\u4e00\u6d41\u7684\u7cbe\u9009\u53d8\u5f02\u6570\u636e\u4ee5\u53ca\u56fd\u9645\u6700\u4f73\u5b9e\u8df5\u6307\u5357\u3002\u4e00\u652f\u8bad\u7ec3\u6709\u7d20\u7684\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\u548c\u79d1\u5b66\u5bb6\u56e2\u961f\u8d1f\u8d23\u89e3\u8bfb\u6570\u636e\u5e76\u4ea4\u53c9\u6838\u5bf9\u6bcf\u4efd\u533b\u5b66\u62a5\u544a\u3002\u6240\u6709\u5386\u53f2\u9ad8\u8d28\u91cf\u5206\u7c7b\u5747\u5df2\u6574\u7406\u5e76\u7f16\u7801\u5230\u6211\u4eec\u7684\u751f\u7269\u6570\u636e\u5e93\u4e2d\uff0c\u8be5\u6570\u636e\u5e93\u662f\u8bca\u65ad\u51b3\u7b56\u548c\u5206\u7c7b\u7684\u53c2\u8003\u4f9d\u636e\u3002.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u68c0\u6d4b\u62a5\u544a\u59cb\u7ec8\u5305\u542b\u6e05\u6670\u3001\u53ef\u64cd\u4f5c\u7684\u4e34\u5e8a\u7ed3\u679c\u3001\u5efa\u8bae\u548c\u540e\u7eed\u65b9\u6848\u3002\u5b83\u4eec\u4ee5\u8868\u578b\u4e3a\u5bfc\u5411\uff0c\u4fa7\u91cd\u4e8e\u62a5\u544a\u4e0e\u60a3\u8005\u4e34\u5e8a\u8868\u73b0\/\u9002\u5e94\u75c7\u76f8\u5173\u7684\u68c0\u6d4b\u7ed3\u679c\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-289\">\n      <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#item-289\" aria-expanded=\"false\" aria-controls=\"item-289\">\n      \u66f4\u591a\u5173\u4e8e\u6d4b\u8bd5\u62a5\u544a\u7684\u4fe1\u606f      <\/button>\n    <\/h2>\n    <div id=\"item-289\" class=\"accordion-collapse collapse\" aria-labelledby=\"heading-289\" 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>\u7ed3\u6784\u6e05\u6670\u3001\u7ed3\u8bba\u660e\u786e\u3001\u7b80\u6d01\u660e\u4e86\u7684\u62a5\u544a<\/li>\n\n\n\n<li>\u5bf9\u60a3\u8005\u5bb6\u65cf\u53f2\u548c\u4e34\u5e8a\u4fe1\u606f\u8fdb\u884c\u8be6\u7ec6\u8bc4\u4f30<\/li>\n\n\n\n<li>\u6839\u636e\u56fd\u9645\u6700\u4f73\u5b9e\u8df5\u6307\u5357\uff08ACMG\/AMP \u548c CLINGEN\uff09\uff0c\u5df2\u8bc6\u522b\u7684\u53d8\u5f02\u4f53\u80fd\u591f\u89e3\u91ca\u8868\u578b\uff0c\u5e76\u5f97\u51fa\u660e\u786e\u7684\u7ed3\u679c\u3002<sup>25-27<\/sup><\/li>\n\n\n\n<li>\u9488\u5bf9\u7279\u5b9a\u75be\u75c5\u7684\u9274\u522b\u8bca\u65ad\u6216\u540e\u7eed\u5206\u6790\u5efa\u8bae<\/li>\n\n\n\n<li>\u652f\u6301\u533b\u5b66\u548c\u79d1\u5b66\u7ed3\u679c\u7684\u51fa\u7248\u7269\u53c2\u8003\u6587\u732e\u4ee5\u53ca\u8be6\u7ec6\u7684\u65b9\u6cd5\u63cf\u8ff0<\/li>\n\n\n\n<li>\u4e3b\u8981\u53d1\u73b0\uff1a\u4e0e\u60a3\u8005\u8868\u578b\u76f8\u5173\u7684\u8bca\u65ad\u7ed3\u679c\uff0c\u4ee5\u53ca\u4e0e\u60a3\u8005\u8868\u578b\u76f8\u5173\u7684\u7814\u7a76\u7ed3\u679c\uff0c\u8fd9\u4e9b\u7ed3\u679c\u53ef\u4e3a\u65e0\u6cd5\u786e\u8bca\u7684\u75c5\u4f8b\u63d0\u4f9b\u6f5c\u5728\u8bca\u65ad\u4fe1\u606f\u3002&nbsp;<\/li>\n\n\n\n<li>\u4e0e\u60a3\u8005\u8868\u578b\u65e0\u5173\u4f46\u53ef\u80fd\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u3001\u6709\u52a9\u4e8e\u5f25\u5408\u8bca\u65ad\u5dee\u8ddd\u7684\u6f5c\u5728\u76f8\u5173\u53d1\u73b0<\/li>\n\n\n\n<li>\u6839\u636eACMG\u6307\u5357\uff0c\u53ef\u9009\u7684\u6b21\u8981\u53d1\u73b0<sup>26<\/sup>&nbsp;\u6240\u6709\u53d7\u6d4b\u8005\u5747\u53ef\u83b7\u5f97<\/li>\n\n\n\n<li>\u6240\u6709\u53d7\u6d4b\u8005\u5747\u53ef\u9009\u62e9 CENTOGENE \u7684\u643a\u5e26\u8005\u4fe1\u606f\u68c0\u6d4b\u7ed3\u679c\uff0c\u8be5\u7ed3\u679c\u62a5\u544a\u4e0e\u60a3\u8005\u8868\u578b\u65e0\u5173\u4e14\u5728 CENTOGENE \u751f\u7269\u6570\u636e\u5e93\u4e2d\u88ab\u5f52\u7c7b\u4e3a\u81f4\u75c5\u6027\/\u53ef\u80fd\u81f4\u75c5\u6027\u7684\u5e8f\u5217\u53d8\u5f02\uff0c\u8fd9\u4e9b\u53d8\u5f02\u4e0e\u9690\u6027\u9057\u4f20\u7684\u4e25\u91cd\u65e9\u53d1\u6027\u5b5f\u5fb7\u5c14\u75be\u75c5\u76f8\u5173\uff0c\u53ef\u80fd\u5177\u6709\u4e34\u5e8a\u610f\u4e49\uff0c\u53ef\u7528\u4e8e\u5bb6\u5ead\u89c4\u5212\u3002<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u66f4\u591a\u4fe1\u606f\uff0c\u8bf7\u53c2\u9605<a href=\"https:\/\/www.centogene.com\/zh\/%e5%88%9b%e6%96%b0\/%e5%8c%bb%e7%96%97%e6%8a%a5%e5%91%8a\/\" data-type=\"page\" data-id=\"52\" target=\"_self\">\u533b\u7597\u62a5\u544a\u7f51\u9875<\/a>\u3002 .<\/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\uff08\u5305\u542b RNA \u6d4b\u5e8f\u529f\u80fd\uff09\u73b0\u5df2\u63a8\u51fa<\/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-157\">\r\n<h2 class=\"text-center mt-0\"> \u66f4\u591a\u4fe1\u606f\u548c\u8d44\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-157\" >\r\n                <a href=\"#tab-body-downloads-157\"  data-id=\"157\">\r\n                    \u4e0b\u8f7d                <\/a>\r\n            <\/div>\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-157\" >\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 | \u4ea7\u54c1\u624b\u518c\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoXome | \u4ea7\u54c1\u624b\u518c<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                \u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f                                <\/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\u8f7d<\/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 \u2013 \u60a3\u8005\u4fe1\u606f\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoXome \u2013 \u60a3\u8005\u4fe1\u606f<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>CentoXome\u00ae \u2013 \u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f (WES)<\/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\u8f7d<\/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-157\" >\r\n                <a href=\"#tab-body-webinars-157\"  data-id=\"157\">\r\n                    \u7f51\u7edc\u7814\u8ba8\u4f1a                <\/a>\r\n            <\/div>      \r\n\r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-webinars-157\" >\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\/zh\/webinar\/variant-reclassification\/\" rel=\"bookmark\" title=\"\u53d8\u5f02\u4f53\u91cd\u65b0\u5206\u7c7b\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">\u53d8\u5f02\u4f53\u91cd\u65b0\u5206\u7c7b<\/h4>\r\n                                    <\/a>\r\n                                    \u4e86\u89e3 CENTOGENE \u7684\u53d8\u5f02\u91cd\u65b0\u5206\u7c7b\u5982\u4f55\u4f7f\u6211\u4eec\u80fd\u591f\u4e3a\u60a8\u63d0\u4f9b\u6700\u65b0\u3001\u6700\u9ad8\u8d28\u91cf\u7684\u6570\u636e\uff0c\u4ece\u800c\u5b9e\u73b0\u6700\u65b0\u7684\u8bca\u65ad\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\/zh\/topic\/biomarker\/\" class=\"cat-link\">\u751f\u7269\u6807\u5fd7\u7269<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wgs\/\" class=\"cat-link\">\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u6570\u636e\u5e93<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/ngs\/\" class=\"cat-link\">\u65b0\u4e00\u4ee3\u6d4b\u5e8f<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/zh\/webinar\/variant-reclassification\/\" rel=\"bookmark\" title=\"\u53d8\u5f02\u4f53\u91cd\u65b0\u5206\u7c7b\" class=\"btn btn-2\">\u7acb\u5373\u89c2\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\/zh\/webinar\/mox-advancing-rare-disease-patient-care-with-multiomic-solutions\/\" rel=\"bookmark\" title=\"MOx\u2014\u2014\u5229\u7528\u591a\u7ec4\u5b66\u89e3\u51b3\u65b9\u6848\u63a8\u8fdb\u7f55\u89c1\u75c5\u60a3\u8005\u62a4\u7406\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">MOx\u2014\u2014\u5229\u7528\u591a\u7ec4\u5b66\u89e3\u51b3\u65b9\u6848\u63a8\u8fdb\u7f55\u89c1\u75c5\u60a3\u8005\u62a4\u7406<\/h4>\r\n                                    <\/a>\r\n                                    \u7acb\u5373\u89c2\u770b\u70b9\u64ad\u7f51\u7edc\u7814\u8ba8\u4f1a\uff0c\u6df1\u5165\u4e86\u89e3\u6211\u4eec\u7684\u591a\u7ec4\u5b66\u9769\u547d\u2014\u2014\u4e00\u79cd\u4ece\u4e0d\u540c\u89d2\u5ea6\u770b\u5f85\u6bcf\u4f4d\u60a3\u8005\u7684\u591a\u7ef4\u65b9\u6cd5\uff0c\u5c06\u6df1\u539a\u7684\u77e5\u8bc6\u548c\u89c1\u89e3\u7ed3\u5408\u8d77\u6765\uff0c\u4ee5\u83b7\u5f97\u6574\u4f53\u7684\u89c6\u89d2\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\/zh\/topic\/metabolic-disorders\/\" class=\"cat-link\">\u4ee3\u8c22\u7d0a\u4e71<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wgs\/\" class=\"cat-link\">\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/multiomics\/\" class=\"cat-link\">\u591a\u7ec4\u5b66<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/zh\/webinar\/mox-advancing-rare-disease-patient-care-with-multiomic-solutions\/\" rel=\"bookmark\" title=\"MOx\u2014\u2014\u5229\u7528\u591a\u7ec4\u5b66\u89e3\u51b3\u65b9\u6848\u63a8\u8fdb\u7f55\u89c1\u75c5\u60a3\u8005\u62a4\u7406\" class=\"btn btn-2\">\u7acb\u5373\u89c2\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\/zh\/webinar\/rewrite-the-future-of-rare-diseases-with-multiomics\/\" rel=\"bookmark\" title=\"\u5229\u7528\u591a\u7ec4\u5b66\u91cd\u5851\u7f55\u89c1\u75c5\u7684\u672a\u6765\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">\u5229\u7528\u591a\u7ec4\u5b66\u91cd\u5851\u7f55\u89c1\u75c5\u7684\u672a\u6765<\/h4>\r\n                                    <\/a>\r\n                                    \u6211\u4eec\u7684\u6f14\u8bb2\u5609\u5bbe\uff0c\u8bca\u65ad\u4e1a\u52a1\u9996\u5e2d\u5546\u52a1\u5b98 Maximilian Schmid \u533b\u5b66\u535a\u58eb\u548c\u57fa\u56e0\u7ec4\u5b66\u9996\u5e2d\u5b98 Peter Bauer \u533b\u5b66\u535a\u58eb\uff0c\u5c06\u91cd\u70b9\u4ecb\u7ecd\u591a\u7ec4\u5b66\u5728\u5efa\u7acb\u5b8c\u6574\u7684\u4e34\u5e8a\u56fe\u666f\u548c\u52a0\u901f\u4e2a\u6027\u5316\u6cbb\u7597\u65b9\u6848\u65b9\u9762\u7684\u5f3a\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\/zh\/topic\/ngs\/\" class=\"cat-link\">\u65b0\u4e00\u4ee3\u6d4b\u5e8f<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/multiomics\/\" class=\"cat-link\">\u591a\u7ec4\u5b66<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u6570\u636e\u5e93<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/zh\/webinar\/rewrite-the-future-of-rare-diseases-with-multiomics\/\" rel=\"bookmark\" title=\"\u5229\u7528\u591a\u7ec4\u5b66\u91cd\u5851\u7f55\u89c1\u75c5\u7684\u672a\u6765\" class=\"btn btn-2\">\u7acb\u5373\u89c2\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=\"\/zh\/%e8%b5%84%e6%ba%90\/%e7%bd%91%e7%bb%9c%e7%a0%94%e8%ae%a8%e4%bc%9a\/?topic=wes#webinarsblock\" class=\"btn btn-primary\">\u67e5\u770b\u66f4\u591a\u7f51\u7edc\u7814\u8ba8\u4f1a<\/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-157\" >\r\n                <a href=\"#tab-body-publications-157\"  data-id=\"157\">\r\n                    \u79d1\u5b66\u51fa\u7248\u7269                <\/a>\r\n            <\/div>\r\n\r\n           \r\n            <div class=\"tab-body bloque-noticias\" id=\"tab-body-publications-157\" >\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\">\u7f55\u89c1\u514d\u75ab\u75be\u75c5\u63ed\u79d8<\/h4>\r\n                                    <p><strong>CBLB\u7eaf\u5408\u7a81\u53d8\u5f15\u8d77\u7684\u514d\u75ab\u5931\u8c03<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1a\u827e\u7433\u00b7\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\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u6570\u636e\u5e93<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/immunology\/\" class=\"cat-link\">\u514d\u75ab\u5b66<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36006710\/\" rel=\"bookmark\" title=\"\u7f55\u89c1\u514d\u75ab\u75be\u75c5\u63ed\u79d8\" class=\"btn btn-2\" target=\"_blank\">\u9605\u8bfb\u51fa\u7248\u7269 <\/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\">\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u56de\u987e\u6027\u8bca\u65ad<\/h4>\r\n                                    <p><strong>\u5148\u5929\u6027\u795e\u7ecf\u808c\u8089\u75be\u75c5\u4e2dASC-1\u590d\u5408\u7269\u529f\u80fd\u969c\u788d\u7684\u8fdb\u4e00\u6b65\u4e34\u5e8a\u548c\u9057\u4f20\u5b66\u8bc1\u636e<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1a\u5b89\u59ae\u7279\u00b7\u739b\u83b1                                        <\/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\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wgs\/\" class=\"cat-link\">\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u6570\u636e\u5e93<\/a><\/div>  \r\n                                                    \r\n                                        <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35690317\/\" rel=\"bookmark\" title=\"\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u56de\u987e\u6027\u8bca\u65ad\" class=\"btn btn-2\" target=\"_blank\">\u9605\u8bfb\u51fa\u7248\u7269 <\/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\">\u5bf9\u4e00\u79cd\u65b0\u578b\u75be\u75c5\u7684\u6df1\u5165\u8868\u5f81<\/h4>\r\n                                    <p><strong>BUD13\u57fa\u56e0\u7684\u9009\u62e9\u6027\u526a\u63a5\u51b3\u5b9a\u4e86\u4e00\u79cd\u4f34\u6709\u8102\u80aa\u8425\u517b\u4e0d\u826f\u548c\u65e9\u8870\u7279\u5f81\u7684\u53d1\u80b2\u969c\u788d\u7684\u4e25\u91cd\u7a0b\u5ea6\u3002<\/strong><\/p>\r\n                                                                        \r\n                                   \r\n\r\n                                                                            <div class=\"bl-autores\">\r\n                                        \u4f5c\u8005\uff1aBertoli-Avella\uff0cAida M.\uff0c\u533b\u5b66\u535a\u58eb                                        <\/div>\r\n                                                                        <div class=\"bl-fecha\">\r\n                                         <time class=\"updated\" datetime=\"2022-06-6\" pubdate>06 2022 \u5e74 6 \u6708<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/zh\/topic\/biodatabank\/\" class=\"cat-link\">\u751f\u7269\u6570\u636e\u5e93<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wes\/\" class=\"cat-link\">\u897f\u6b27<\/a><a href=\"https:\/\/www.centogene.com\/zh\/topic\/wgs\/\" class=\"cat-link\">\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f<\/a><\/div>  \r\n                 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href=\"https:\/\/globalgenes.org\/rare-facts\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u7f55\u89c1\u4e8b\u5b9e\u2014\u2014\u5168\u7403\u57fa\u56e0<\/a>;<sup>&nbsp;2<\/sup><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/pages\/31\/faqs-about-rare-diseases\" target=\"_blank\" rel=\"noreferrer noopener\">\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u9057\u4f20\u5b66\u548c\u7f55\u89c1\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\u6863\u6570\u636e\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 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\u5e74\uff0cPMID\uff1a34211152\uff1b;&nbsp;<sup>20&nbsp;<\/sup>\u9a6c\u8482\u65af\u7b49\u4eba\u3002 2016\u5e74\uff0cPMID\uff1a2762856\uff1b;<sup>&nbsp;21&nbsp;<\/sup>\u82cf\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>\u4e34\u5e8a\u57fa\u56e0\u7ec4\u8d44\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\">\u5b9e\u7528\u94fe\u63a5<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/zh\/%e8%af%8a%e6%96%ad\/%e5%a6%82%e4%bd%95%e8%ae%a2%e8%b4%ad%e8%88%b9%e5%8f%aa\/\" data-type=\"page\" data-id=\"40\">\u5982\u4f55\u8ba2\u8d2d\u68c0\u6d4b<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/zh\/%e5%88%9b%e6%96%b0\/%e7%99%be%e5%8d%a1\/\" data-type=\"page\" data-id=\"1453\">\u5982\u4f55\u8ba2\u8d2d CentoCard<sup>\u00ae<\/sup><\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centogene.com\/zh\/%e5%88%9b%e6%96%b0\/%e5%8c%bb%e7%96%97%e6%8a%a5%e5%91%8a\/\" data-type=\"page\" data-id=\"52\">\u533b\u7597\u62a5\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    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