{"id":36,"date":"2025-02-12T12:46:06","date_gmt":"2025-02-12T12:46:06","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=36"},"modified":"2026-04-22T09:06:03","modified_gmt":"2026-04-22T09:06:03","slug":"%e5%85%a8%e5%9f%ba%e5%9b%a0%e9%ab%94%e5%ae%9a%e5%ba%8f","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/tw\/diagnostics\/whole-genome-sequencing\/","title":{"rendered":"\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f <br>\nWhole Genome Sequencing, WGS"},"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-tests_wgs-header_f5ada26af6.webp\" alt=\"csm_centogene-diagnostics-tests_wgs-header_f5ada26af6\" \/>\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\u57fa\u56e0\u9ad4\u5b9a\u5e8f <br>\nWhole Genome Sequencing, WGS<\/h1>\r\n          <h2 class=\"bl-texto\">CentoGenome \u2014 \u5168\u9762\u6db5\u84cb\uff0c\u4e00\u6b21\u5b8c\u6210\u3002CentoGenome \u662f\u5168\u7403\u6700\u5168\u9762\u7684\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u8a3a\u65b7\u5de5\u5177\u4e4b\u4e00\uff0c\u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u63d0\u4f9b\u5353\u8d8a\u7684\u57fa\u56e0\u9ad4\u6db5\u84cb\u7387\u8207\u5f37\u5927\u7684\u8a3a\u65b7\u80fd\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\">\u7acb\u5373\u8a02\u8cfc\u6aa2\u6e2c<\/a>\r\n                     \r\n          <a class=\"btn btn-2 mb-2\" href=\"#ultrafast\">\u63a2\u7d22 CentoGenome Ultra-Fast<\/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\">CENTOGENE \u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\u670d\u52d9<\/h2>\n\n\n\n<p class=\"has-medium-font-size wp-block-paragraph\">\u5373\u4f7f\u5c0d\u7d93\u9a57\u8c50\u5bcc\u7684\u81e8\u5e8a\u91ab\u5e2b\u800c\u8a00\uff0c\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u5feb\u901f\u4e14\u6e96\u78ba\u8a3a\u65b7\u4ecd\u662f\u4e00\u9805\u6311\u6230\u3002\u7136\u800c\uff0c\u96a8\u8457\u57fa\u56e0\u9ad4\u6280\u8853\u7684\u6301\u7e8c\u9032\u6b65\u3001\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u9010\u6f38\u6210\u70ba\u7b2c\u4e00\u7dda\u8a3a\u65b7\u5de5\u5177\uff0c\u4ee5\u53ca\u6211\u5011\u5c0d\u907a\u50b3\u75be\u75c5\u6a5f\u5236\u7684\u6df1\u5165\u4e86\u89e3\uff0c\u75be\u75c5\u8a3a\u65b7\u5df2\u8b8a\u5f97\u6bd4\u4ee5\u5f80\u66f4\u52a0\u5feb\u901f\u4e14\u53ef\u9760\u3002\u5373\u4f7f\u5c0d\u7d93\u9a57\u8c50\u5bcc\u7684\u81e8\u5e8a\u91ab\u5e2b\u800c\u8a00\uff0c\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u5feb\u901f\u4e14\u6e96\u78ba\u8a3a\u65b7\u4ecd\u662f\u4e00\u9805\u6311\u6230\u3002\u7136\u800c\uff0c\u96a8\u8457\u57fa\u56e0\u9ad4\u6280\u8853\u7684\u6301\u7e8c\u9032\u6b65\u3001\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u9010\u6f38\u6210\u70ba\u7b2c\u4e00\u7dda\u8a3a\u65b7\u5de5\u5177\uff0c\u4ee5\u53ca\u6211\u5011\u5c0d\u907a\u50b3\u75be\u75c5\u6a5f\u5236\u7684\u6df1\u5165\u4e86\u89e3\uff0c\u75be\u75c5\u8a3a\u65b7\u5df2\u8b8a\u5f97\u6bd4\u4ee5\u5f80\u66f4\u52a0\u5feb\u901f\u4e14\u53ef\u9760\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CENTOGENE \u7684\u5347\u7d1a\u7248 WGS \u89e3\u6c7a\u65b9\u6848 CentoGenome\uff0c\u662f\u5168\u7403\u6700\u5168\u9762\u7684\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u8a3a\u65b7\u5de5\u5177\u4e4b\u4e00\uff0c\u900f\u904e\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u63d0\u4f9b\u5353\u8d8a\u7684\u57fa\u56e0\u9ad4\u6db5\u84cb\u7387\u8207\u8a3a\u65b7\u6548\u80fd\u3002CentoGenome \u7d50\u5408\u5148\u9032\u7684\u5b9a\u5e8f\u6280\u8853\u3001\u512a\u5316\u7684 CE-IVD \u751f\u7269\u8cc7\u8a0a\u5206\u6790\u6d41\u7a0b\uff0c\u4ee5\u53ca\u57fa\u65bc\u00a0<a href=\"https:\/\/www.centogene.com\/tw\/%e5%89%b5%e6%96%b0\/centogene-%e7%94%9f%e7%89%a9%e8%b3%87%e6%96%99%e5%ba%ab\/\" type=\"page\" id=\"50\">CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab \uff08Biodatabank\uff09<\/a>\u7684\u91ab\u5b78\u5c08\u5bb6\u5224\u8b80\uff0c\u63d0\u4f9b\u9ad8\u54c1\u8cea\u4e14\u53ef\u9760\u7684\u8a3a\u65b7\u7d50\u679c\u3002\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u5075\u6e2c\u5e7e\u4e4e\u6240\u6709\u4e3b\u8981\u985e\u578b\u7684\u57fa\u56e0\u8b8a\u7570\uff0c\u5305\u62ec\uff1a\u5e8f\u5217\u8b8a\u7570\uff08SVs\uff09\u3001\u62f7\u8c9d\u6578\u8b8a\u7570\uff08CNVs\uff09\u3001\u55ae\u89aa\u4e8c\u500d\u9ad4\uff08UPD\uff09\u3001\u91cd\u8907\u5e8f\u5217\u64f4\u589e\uff08Repeat Expansions\uff09\u3001\u5176\u4ed6\u8907\u96dc\u7684\u57fa\u56e0\u9ad4\u8b8a\u7570\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\">\u900f\u904e <strong>CentoGenome<\/strong>\uff0c\u53ef\u5927\u5e45\u7e2e\u77ed\u8a3a\u65b7\u6642\u9593\u3001\u63d0\u5347\u6aa2\u6e2c\u6548\u7387\u4e26\u7bc0\u7701\u91ab\u7642\u8cc7\u6e90\uff0c\u5354\u52a9\u91ab\u5e2b\u66f4\u5feb\u901f\u5efa\u7acb\u53ef\u9760\u7684\u8a3a\u65b7\uff0c\u4e26\u53ca\u65e9\u70ba\u60a3\u8005\u898f\u5283\u9069\u7576\u7684\u6cbb\u7642\u65b9\u6848\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 CentoGenome\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\">\u5148\u9032\u6280\u8853\uff0c\u5e36\u4f86\u66f4\u6df1\u5165\u7684\u57fa\u56e0\u9ad4\u6d1e\u5bdf<\/h3>\n                            <p>CentoGenome \u63a1\u7528\u7121 PCR\uff08PCR-free\uff09\u6280\u8853\uff0c\u6709\u6548\u964d\u4f4e\u5b9a\u5e8f\u504f\u5dee\uff0c\u63d0\u5347\u96e3\u4ee5\u5b9a\u5e8f\u5340\u57df\u7684\u8cc7\u6599\u54c1\u8cea\uff0c\u5be6\u73fe\u5c0d\u7de8\u78bc\u5340\uff08Coding Regions\uff09\u3001\u8abf\u63a7\u5340\uff08Regulatory Regions\uff09\u53ca\u5167\u542b\u5b50\u5340\u57df\uff08Intronic Regions\uff09\u7684\u66f4\u5168\u9762\u5206\u6790\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_hand-heart.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">\u6574\u5408\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\u8207\u78ba\u8a8d\u6aa2\u6e2c\uff0c\u5be6\u8e10\u7d42\u8eab\u627f\u8afe<\/h3>\n                            <p>\u4f5c\u70ba\u5168\u7403\u503c\u5f97\u4fe1\u8cf4\u7684\u5408\u4f5c\u5925\u4f34\uff0cCENTOGENE \u63d0\u4f9b\u514d\u8cbb\u4e14\u4e3b\u52d5\u7684\u8a3a\u65b7\u78ba\u8a8d\uff08Diagnosis Confirmation\uff09\u53ca\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\uff08Variant Reclassification\uff09\u670d\u52d9\uff0c\u5354\u52a9\u91ab\u5e2b\u8207\u60a3\u8005\u6301\u7e8c\u53d7\u76ca\u65bc\u6700\u65b0\u7684\u79d1\u5b78\u8b49\u64da\u8207\u91ab\u5b78\u9032\u5c55\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\/Icon_Woman_Physician.svg\" class=\"\" alt=\"\" \/> <\/div>                                               \n                                                \n                        <div class=\"caja-text\">\n                                                        <h3 class=\"bl-titulo\">\u5353\u8d8a\u6548\u80fd\uff0c\u63d0\u5347\u75be\u75c5\u6aa2\u6e2c\u6db5\u84cb\u7387<\/h3>\n                            <p>CentoGenome \u7d50\u5408 CE-IVD \u751f\u7269\u8cc7\u8a0a\u5206\u6790\u6d41\u7a0b\u3001\u91ab\u5b78\u5c08\u5bb6\u5224\u8b80\uff0c\u4ee5\u53ca CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09 \u7684\u6578\u64da\u652f\u6301\uff0c\u63d0\u4f9b\u66f4\u5353\u8d8a\u7684\u57fa\u56e0\u8b8a\u7570\u5075\u6e2c\u80fd\u529b\uff0c\u63d0\u5347\u75be\u75c5\u8a3a\u65b7\u7684\u6db5\u84cb\u7bc4\u570d\u8207\u6e96\u78ba\u6027\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<section class=\"bloque-personalizado bloque-cta-texto estilo-circle\" >\n    <div class=\"container\"> \n                    <div class=\"image-wrapper\" style=\"background-image:url(https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/08\/CentoGenome-Ultra-Fast-CENTOGENE-1920-e1756276513857-1500x1000.jpg)\">\n                <!--<img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/08\/CentoGenome-Ultra-Fast-CENTOGENE-1920-e1756276513857-1500x1000.jpg\" alt=\"CentoGenome Ultra-Fast\" \/>-->\n            <\/div>\n                <div class=\"row\">\n                        <div class=\"col-12 col-md-5 animation fadeLeft text-wrapper\">\n                                <div class=\"bl-titulo mt-3\">CentoGenome Ultra-Fast<\/div>\n\n                <p class=\"bl-texto\">\u4eab\u6709 CentoGenome \u7684\u5b8c\u6574\u54c1\u8cea\u8207\u6240\u6709\u512a\u52e2\uff0c\u50c5\u9700 5 \u500b\u5de5\u4f5c\u5929\u5373\u53ef\u53d6\u5f97\u6aa2\u6e2c\u7d50\u679c\u3002<\/p>                            <\/div>\n                        <div class=\"col-12 col-md-7 bl-texto d-flex align-items-end text-center\">\n                <a href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&#038;query=Ultra-Fast\" class=\"btn btn-primary  animation opacity delay-2 mx-auto\"\n                 target=\"_blank\"     \n                >\u7acb\u5373\u8a02\u8cfc<\/a>\n            <\/div>\n                    <\/div> \n    <\/div>  \n<\/section>\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\" style=\"flex-basis:66.66%\">\n<h2 class=\"wp-block-heading\">\u5148\u9032\u6280\u8853\uff0c\u6253\u9020\u5353\u8d8a\u7684\u81e8\u5e8a\u6aa2\u6e2c\u6db5\u84cb\u7387<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f5c\u70ba\u7b2c\u4e00\u7dda\u8a3a\u65b7\u5de5\u5177\uff0cCentoGenome \u662f\u76ee\u524d\u5e02\u9762\u4e0a\u6700\u5168\u9762\u7684\u5546\u696d\u5316\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u6aa2\u6e2c\u4e4b\u4e00\uff0c\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u8a3a\u65b7\u3002\u55ae\u4e00\u6b21\u6aa2\u6e2c\u5373\u53ef\u6db5\u84cb\u5e7e\u4e4e\u6240\u6709\u81f4\u75c5\u57fa\u56e0\u8b8a\u7570\uff0c\u5305\u62ec\u5927\u591a\u6578\u5df2\u77e5\u8207\u795e\u7d93\u7cfb\u7d71\u75be\u75c5\u76f8\u95dc\u7684\u91cd\u8907\u5e8f\u5217\u64f4\u589e\uff08Repeat Expansions\uff09\u3002<sup>1<\/sup>\u6b64\u5916\uff0cCentoGenome \u9084\u53ef\u9ad8\u9748\u654f\u5ea6\u5075\u6e2c\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff08Spinal Muscular Atrophy, SMA\uff09\u76f8\u95dc\u7684\u62f7\u8c9d\u6578\u8b8a\u7570\uff08CNVs\uff09\uff0c\u4ee5\u53ca\u8207\u9ad8\u96ea\u6c0f\u75c7\uff08Gaucher Disease, GD\uff09\u53ca&nbsp;<em>GBA1<\/em>-\u76f8\u95dc\u5e15\u91d1\u68ee\u6c0f\u75c7\uff08Parkinson's Disease, PD\uff09\u6613\u611f\u6027\u7684\u81f4\u75c5\u57fa\u56e0\u8b8a\u7570<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">CentoGenome \u63a1\u7528\u5168\u65b0\u8a2d\u8a08\u7684\u7121 PCR\uff08PCR-free\uff09\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\u6d41\u7a0b\uff0c\u6709\u6548\u964d\u4f4e PCR \u6240\u9020\u6210\u7684\u5b9a\u5e8f\u504f\u5dee\uff0c\u63d0\u5347\u56f0\u96e3\u5340\u57df\u7684\u5b9a\u5e8f\u54c1\u8cea\uff0c\u5be6\u73fe\u66f4\u5747\u52fb\u7684\u57fa\u56e0\u9ad4\u8986\u84cb\u7387\u8207\u66f4\u512a\u7570\u7684\u57fa\u56e0\u8b8a\u7570\u5075\u6e2c\u80fd\u529b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e73\u5747\u5b9a\u5e8f\u6df1\u5ea6\uff1a\u7d04 30\u00d7&nbsp;<\/li>\n\n\n\n<li>\u5e7e\u4e4e\u5b8c\u6574\u6db5\u84cb\u6838\u57fa\u56e0\u9ad4\uff08\u8d85\u904e 20,000 \u500b\u57fa\u56e0\uff09\u53ca\u5b8c\u6574\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\uff0837 \u500b\u57fa\u56e0\uff09<\/li>\n\n\n\n<li>\u8d85\u904e 97% \u7684\u57fa\u56e0\u9ad4\u5340\u57df\u9054\u5230 \u226510\u00d7 \u8986\u84cb\u6df1\u5ea6<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th colspan=\"2\">\u6838\u5fc3\u7279\u8272\u8207\u6aa2\u6e2c\u6548\u80fd<\/th><\/tr><\/thead><tbody><tr><th><strong>\u5747\u52fb\u4e14\u5b8c\u6574\u7684\u57fa\u56e0\u9ad4\u8986\u84cb<\/strong><\/th><td><ul><li>\u5e73\u5747\u5b9a\u5e8f\u6df1\u5ea6\uff1a\u7d04 30\u00d7&nbsp;<\/li> \t\t\t\t<li>\u5e7e\u4e4e\u5b8c\u6574\u6db5\u84cb\u6838\u57fa\u56e0\u9ad4\uff08\u8d85\u904e 20,000 \u500b\u57fa\u56e0\uff09\u53ca\u5b8c\u6574\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\uff0837 \u500b\u57fa\u56e0\uff09<\/li> \t\t\t\t<li>\u8d85\u904e 97% \u7684\u57fa\u56e0\u9ad4\u5340\u57df\u9054\u5230 \u226510\u00d7 \u8986\u84cb\u6df1\u5ea6<\/li><\/ul><\/td><\/tr><tr><th><strong>\u5148\u9032\u4e14\u9ad8\u9748\u654f\u5ea6\u7684\u57fa\u56e0\u8b8a\u7570\u5075\u6e2c<\/strong><\/th><td><ul class=\"\">                 <li>\u53ef\u5075\u6e2c\u591a\u7a2e\u57fa\u56e0\u8b8a\u7570\uff0c\u5305\u62ec\uff1a\u55ae\u6838\u82f7\u9178\u8b8a\u7570\uff08SNVs\uff09\u3001\u5c0f\u578b\u63d2\u5165\uff0f\u7f3a\u5931\u8b8a\u7570\uff08InDels\uff09\u3001\u7d50\u69cb\u8b8a\u7570\uff08SVs\uff09\u3001\u5c0f\u578b\u81f3\u7d30\u80de\u907a\u50b3\u5b78\u5c64\u7d1a\u7684\u62f7\u8c9d\u6578\u8b8a\u7570\uff08CNVs\uff09\u3001\u7c92\u7dda\u9ad4 DNA\uff08mtDNA\uff09\uff0c\u53ef\u5075\u6e2c\u7570\u8cea\u6027\uff08Heteroplasmy\uff09\u226515%<\/li>                 <li>\u9748\u654f\u5ea6\uff08Sensitivity\uff09               <br>SNV \u8207 InDel\uff08\u2264 50 bp\uff09&gt;99.9% <br>CNVs &gt;95.0%<br>\u6240\u6709\u5831\u544a\u57fa\u56e0\u8b8a\u7570\u7686\u4fdd\u8b49 &gt;99.9% \u7684\u7279\u7570\u6027\u3002<sup>*<\/sup><\/li>                 <li>\u55ae\u89aa\u4e8c\u500d\u9ad4\uff08UPD\uff09\u6aa2\u6e2c<sup>**<\/sup> \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<\/li>                 <li>\u91cd\u8907\u5e8f\u5217\u64f4\u589e\uff08Repeat Expansion\uff09\u6aa2\u6e2c<sup>**<\/sup> \u53ef\u6aa2\u6e2c 23 \u500b\u8207\u795e\u7d93\u7cfb\u7d71\u75be\u75c5\u76f8\u95dc\u7684\u91cd\u8981\u57fa\u56e0\uff0c\u5305\u62ec\uff1a <em>AR\u3001ATN1\u3001ATXN1\u3001ATXN2\u3001ATXN3\u3001ATXN7\u3001ATXN8OS\u3001ATXN10\u3001CACNA1A\u3001CNBP\u3001CSTB\u3001C9orf72\u3001DMPK\u3001FMR1\u3001FXN\u3001HTT\u3001JPH3\u3001NOP56\u3001PABPN1\u3001PHOX2B\u3001PPP2R2B\u3001PRNP<\/em> \u53ca <em>TBP<\/em><\/li>             <\/ul><\/td><\/tr><tr><th><strong>\u5f37\u5316 SMA<\/strong> <strong>\u8207 GD\uff0fPD \u76f8\u95dc\u57fa\u56e0\u8b8a\u7570\u6aa2\u6e2c<sup>***<\/sup><\/strong><\/th><td><ul class=\"\"> \t\t\t\t<li>\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7\uff08SMA\uff09\uff1a <em>SMN1<\/em>\/<em>SMN2 <\/em>\u62f7\u8c9d\u6578\u8b8a\u7570\uff08CNV\uff09\u5206\u6790<\/li> \t\t\t\t<li class=\"translation-block\">\u9ad8\u96ea\u6c0f\u75c7\uff08GD\uff09\uff0f\u5e15\u91d1\u68ee\u6c0f\u75c7\uff08PD\uff09\uff1a<em>GBA1<\/em>\u57fa\u56e0\u5206\u6790\uff08\u5305\u542b\u8207\u507d\u57fa\u56e0 <em>GBAP1<\/em> \u7684\u57fa\u56e0\u8f49\u63db\u5206\u6790\uff09<\/li> \t\t\t<\/ul><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p class=\"has-small-font-size wp-block-paragraph\"><strong>SNV<\/strong>\u55ae\u6838\u82f7\u9178\u8b8a\u7570\uff1b;<strong>&nbsp;\u63d2\u5165\u7f3a\u5931\uff1a&nbsp;<\/strong>\u5c0f\u5e45\u63d2\u5165\/\u522a\u9664\uff1b;&nbsp;<strong>SVs\uff1a<\/strong>&nbsp;\u7d50\u69cb\u8b8a\u7570\uff1b;&nbsp;<strong>CNV\uff1a<\/strong>&nbsp;\u62f7\u8c9d\u7de8\u865f\u8b8a\u9ad4\uff1b;<strong>&nbsp;\u66f4\u65b0\uff1a<\/strong>&nbsp;\u55ae\u89aa\u4e8c\u9ad4\uff1b;&nbsp;<strong>\u7c92\u7dda\u9ad4DNA\uff1a<\/strong>&nbsp;\u7c92\u7dda\u9ad4DNA<br><sup>*<\/sup> \u4f4e\u8cea\u91cf\u548c\/\u6216\u5408\u5b50\u6027\u4e0d\u660e\u78ba\u7684\u8b8a\u7570\u9ad4\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 (MLPA)\u3001\u5b9a\u91cf\u805a\u5408\u9176\u934a\u5f0f\u53cd\u61c9 (qPCR) \u6216\u67d3\u8272\u9ad4\u5fae\u9663\u5217 (CMA) \u9032\u884c\u78ba\u8a8d\u3002\u5c0d\u65bc\u8207\u91cd\u8907\u5e8f\u5217\u64f4\u589e\u75be\u75c5\u3001\u55ae\u89aa\u4e8c\u9ad4 (UPD) \u76f8\u95dc\u7684\u5df2\u5831\u544a\u8b8a\u7570\u9ad4\uff0c\u5fc5\u8981\u6642\u4e5f\u6703\u63a1\u7528\u6b63\u4ea4\u65b9\u6cd5\u9032\u884c\u5167\u90e8\u78ba\u8a8d\u6027\u6aa2\u6e2c\u3002&nbsp;<em>SMN1<\/em>\/<em>SMN2&nbsp;<\/em>CNV \u548c\u8f49\u63db\u4e8b\u4ef6&nbsp;<em>GBA1&nbsp;<\/em>\u53ca&nbsp;<em>GBAP1<\/em>, \u5206\u5225\u4ee5\u7247\u6bb5\u9577\u5ea6\u5206\u6790\uff08FLA\uff09\u3001CMA\u3001MLPA \u548c qPCR \u65b9\u6cd5\u9032\u884c\u6aa2\u6e2c\u3002<br><sup>**<\/sup> \u6211\u5011\u4f7f\u7528\u5167\u90e8\u958b\u767c\u7684\u5b5f\u5fb7\u723e\u907a\u50b3\u932f\u8aa4\uff08MIE\uff09\u6f14\u7b97\u6cd5\u5c0d\u55ae\u89aa\u4e8c\u9ad4\uff08UPD\uff09\u9032\u884c\u7be9\u6aa2\uff0c\u4ee5\u6aa2\u6e2c\u5df2\u77e5\u7684\u5177\u6709\u81e8\u5e8a\u610f\u7fa9\u7684\u67d3\u8272\u9ad4\u5340\u57df\u7684\u7d14\u5408\u6027\u7247\u6bb5\uff08ROH\uff09\u3002\u91cd\u8907\u5e8f\u5217\u64f4\u589e\u7684\u7be9\u6aa2\u5247\u7531ExpansionHunter\u7a0b\u5e8f\u5b8c\u6210\u3002<br><sup>***<\/sup> SMA\u7be9\u9078\u63a1\u7528SMN Caller\u6f14\u7b97\u6cd5\u9032\u884c\u5075\u6e2c&nbsp;<em>SMN1<\/em>\/<em>SMN2&nbsp;<\/em>CNV\u3002.&nbsp;<em>GBA1&nbsp;<\/em>\u4f7f\u7528\u9ad8\u65af\u6f14\u7b97\u6cd5\u9032\u884c\u7be9\u9078\uff0c\u4ee5\u6aa2\u6e2c\u5f71\u97ff\u5305\u542b\u5916\u986f\u5b50 9-11 (NM_000157.3) \u5340\u57df\u7684\u91cd\u7d44\u4e8b\u4ef6\uff0c\u8a72\u5340\u57df\u8207\u5177\u6709\u6700\u9ad8\u540c\u6e90\u6027\u7684\u5340\u57df&nbsp;<em>GBAP1<\/em><\/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=\"683\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920-1024x683.webp\" alt=\"\" class=\"wp-image-1496\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920-1024x683.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920-1500x1000.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920-768x512.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920-1536x1024.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Superior_Technology_1920.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\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">CentoGenome \u662f\u8a3a\u65b7\u7f55\u898b\u75be\u75c5\u8207\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u7406\u60f3\u89e3\u6c7a\u65b9\u6848\u3002\u5b83\u53ef\u4f5c\u70ba\u7b2c\u4e00\u7dda\u6aa2\u6e2c\uff0c\u5354\u52a9\u7591\u4f3c\u907a\u50b3\u75be\u75c5\u60a3\u8005\u5efa\u7acb\u5206\u5b50\u8a3a\u65b7\uff1b\u4ea6\u53ef\u4f5c\u70ba\u7b2c\u4e8c\u7dda\u6aa2\u6e2c\uff0c\u9069\u7528\u65bc\u5148\u524d\u57fa\u56e0\u6aa2\u6e2c\u7d50\u679c\u70ba\u9670\u6027\u7684\u60a3\u8005\u3002\u76f8\u8f03\u65bc\u9032\u884c\u591a\u9805\u7368\u7acb\u7684\u5206\u5b50\u6aa2\u6e2c\uff0cCentoGenome \u80fd\u4ee5\u66f4\u5177\u6210\u672c\u6548\u76ca\u7684\u65b9\u5f0f\u5b8c\u6210\u5206\u5b50\u8a3a\u65b7\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph translation-block\">\u8fd1\u5e74\u591a\u9805\u7814\u7a76\u53ca\u91ab\u5b78\u907a\u50b3\u5b78\u6703\u7684\u8072\u660e\u8207\u5efa\u8b70\u6307\u51fa\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\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u61c9\u4f5c\u70ba\u7b2c\u4e00\u7dda\u6216\u7b2c\u4e8c\u7dda\u8a3a\u65b7\u5de5\u5177\u3002<sup>2\u20136<\/sup> \u5c24\u5176\u9069\u7528\u65bc\u907a\u50b3\u7570\u8cea\u6027\u9ad8\u7684\u75be\u75c5\uff0c\u6216\u5728\u80fd\u6539\u5584\u81e8\u5e8a\u7167\u8b77\u53ca\u5177\u5099\u6210\u672c\u6548\u76ca\u7684\u60c5\u6cc1\u4e0b\uff0c\u66f4\u80fd\u5c55\u73fe WGS \u7684\u512a\u52e2\u3002\u4f8b\u5982\uff0c\u7f8e\u570b\u91ab\u5b78\u907a\u50b3\u5b78\u8207\u57fa\u56e0\u9ad4\u5b78\u5b78\u6703\uff08ACMG\uff09\u5efa\u8b70\uff0c\u5c0d\u65bc\u667a\u80fd\u969c\u7919\u3001\u767c\u5c55\u9072\u7de9\u6216\u591a\u91cd\u5148\u5929\u7570\u5e38\u7684\u5152\u7ae5\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\u6aa2\u6e2c\u3002 <sup>5<\/sup>\u00a0 \u6211\u5011\u7279\u5225\u5efa\u8b70\u4ee5\u4e0b\u60c5\u6cc1\u4f7f\u7528 CentoGenome\uff1a<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>\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\uff0c\u4f8b\u5982\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u6216\u907a\u50b3\u7570\u8cea\u6027\u9ad8\u7684\u75be\u75c5\uff08\u5982\u667a\u80fd\u969c\u7919\uff0f\u767c\u5c55\u9072\u7de9\u3001\u7672\u7647\u3001\u808c\u8089\u5931\u990a\u75c7\u53ca\u5176\u4ed6\u808c\u8089\u75be\u75c5\u3001\u5171\u6fdf\u5931\u8abf\u3001\u5468\u908a\u795e\u7d93\u75c5\u8b8a\u3001\u5fc3\u808c\u75c5\u3001\u9aa8\u9abc\u767c\u80b2\u7570\u5e38\u3001\u514d\u75ab\u7f3a\u9677\u3001\u807d\u529b\u969c\u7919\u53ca\u8996\u89ba\u969c\u7919\u7b49\uff09<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8868\u73fe\u975e\u5178\u578b\u7684\u75be\u75c5\u6216\u60a3\u8005\uff08\u4f8b\u5982\uff1a\u65b0\u751f\u5152\u540c\u6642\u51fa\u73fe\u5148\u5929\u6027\u5fc3\u81df\u7f3a\u9677\u53ca\u7279\u767c\u6027\u8840\u5c0f\u677f\u6e1b\u5c11\u6027\u7d2b\u6591\u75c7\uff0c\u7d93\u6aa2\u6e2c\u767c\u73fe KMT2D \u57fa\u56e0\u8b8a\u7570\uff0c\u63d0\u793a\u53ef\u80fd\u70ba Kabuki \u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li>\u61f7\u7591\u5b58\u5728\u96d9\u91cd\u8a3a\u65b7\uff08Dual Diagnosis\uff09\u6216\u591a\u91cd\u81e8\u5e8a\u8868\u73fe\uff08\u4f8b\u5982\uff1a\u540c\u6642\u51fa\u73fe\u807d\u529b\u969c\u7919\u3001\u9b5a\u9c57\u766c\u3001\u667a\u80fd\u969c\u7919\u53ca\u91cd\u5ea6\u514d\u75ab\u7f3a\u9677\uff09<\/li>\n\n\n\n<li>\u61f7\u7591\u70ba\u5fae\u7f3a\u5931\uff0f\u5fae\u91cd\u8907\u75c7\u5019\u7fa4\uff08Microdeletion\uff0fMicroduplication Syndrome\uff09\uff0c\u5982\u795e\u7d93\u767c\u80b2\u9072\u7de9\u3001\u660e\u986f\u5916\u89c0\u7570\u5e38\u3001\u591a\u91cd\u5148\u5929\u7578\u5f62\u6216\u751f\u9577\u9072\u7de9\u60a3\u8005<\/li>\n\n\n\n<li>\u61f7\u7591\u7c92\u7dda\u9ad4\u75be\u75c5\uff08\u5982\u808c\u8089\u7121\u529b\u3001\u5fc3\u808c\u75c5\u8b8a\u53ca\u8996\u529b\u7570\u5e38\u60a3\u8005\uff09<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>\u904e\u53bb\u63a5\u53d7\u57fa\u56e0\u6aa2\u6e2c\u4ecd\u7121\u6cd5\u7372\u5f97\u660e\u78ba\u8a3a\u65b7\uff0c\u4f8b\u5982\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7591\u4f3c\u5e38\u67d3\u8272\u9ad4\u986f\u6027\u907a\u50b3\u6027\u75d9\u6523\u6027\u622a\u7671\uff0c\u4f46\u57fa\u56e0\u6aa2\u6e2c\u5957\u7d44\uff08Gene Panel\uff09\u7d50\u679c\u70ba\u9670\u6027<\/li>\n\n\n\n<li>\u795e\u7d93\u767c\u80b2\u9072\u7de9\u4e14\u6709\u76f8\u4f3c\u75c7\u72c0\u624b\u8db3\uff0c\u5fae\u9663\u5217\uff08Microarray\uff09\u53ca\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u6aa2\u6e2c\u7686\u672a\u80fd\u78ba\u8a3a<\/li>\n\n\n\n<li>\u4efb\u4f55\u61f7\u7591\u70ba\u907a\u50b3\u75be\u75c5\u4f46 WES \u7d50\u679c\u70ba\u9670\u6027\u7684\u500b\u6848<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><br><strong>\u9700\u8981\u5feb\u901f\u8a3a\u65b7\uff0c\u7121\u6cd5\u7b49\u5f85\u9010\u6b65\u6aa2\u6e2c\u7b56\u7565\u7684\u60a3\u8005\uff0c\u4f8b\u5982\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c5\u60c5\u5371\u6025\u4e14\u8a3a\u65b7\u7d50\u679c\u53ef\u80fd\u7acb\u5373\u5f71\u97ff\u91ab\u7642\u8655\u7f6e\u7684\u60a3\u8005\uff08\u5982\u7672\u7647\u3001\u808c\u5f35\u529b\u4f4e\u4e0b\u3001\u795e\u7d93\u5b78\u7570\u5e38\u53ca\u75c5\u60c5\u5feb\u901f\u60e1\u5316\u7684\u5152\u7ae5\uff09<\/li>\n\n\n\n<li>\u65b0\u751f\u5152\u3001\u5b30\u5e7c\u5152\u53ca\u5152\u7ae5\u9700\u5feb\u901f\u8a3a\u65b7\u4ee5\u5354\u52a9\u9810\u5f8c\u8a55\u4f30\u53ca\u6cbb\u7642\u6c7a\u7b56\uff08\u4f8b\u5982\u65b0\u751f\u5152\u52a0\u8b77\u75c5\u623f\uff08NICU\uff09\u53ca\u5152\u7ae5\u52a0\u8b77\u75c5\u623f\uff08PICU\uff09\u7684\u91cd\u75c7\u60a3\u8005\uff09<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><br>\u5728\u6211\u5011\u5176\u4e2d\u4e00\u9805\u81e8\u5e8a\u7814\u7a76\u4e2d\uff0c\u91dd\u5c0d\u76ee\u524d\u898f\u6a21\u6700\u5927\u7684\u60a3\u8005\u65cf\u7fa4\u4e4b\u4e00\u9032\u884c\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\uff0c\u7d50\u679c\u986f\u793a WGS \u4f5c\u70ba\u6700\u5168\u9762\u7684\u57fa\u56e0\u6aa2\u6e2c\u65b9\u6cd5\uff0c\u5177\u6709\u512a\u7570\u7684\u8a3a\u65b7\u80fd\u529b\uff0c\u4e26\u5c55\u73fe\u76f8\u8f03\u65bc\u5168\u5916\u986f\u5b50\u5b9a\u5e8f\uff08WES\uff09\u7684\u81e8\u5e8a\u512a\u52e2\u3002<sup>7<\/sup>&nbsp; \u7814\u7a76\u7d50\u679c\u4ea6\u652f\u6301\uff0c\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u61c9\u88ab\u8996\u70ba\u907a\u50b3\u75be\u75c5\u6aa2\u6e2c\u7684<strong>\u6a19\u6e96\u7167\u8b77\uff08Standard of Care\uff09<\/strong>\uff0c\u4e26\u53ef\u4f5c\u70ba\u7f55\u898b\u75be\u75c5\u60a3\u8005\u7684\u7b2c\u4e00\u7dda\u3001\u55ae\u4e00\u6aa2\u6e2c\u65b9\u6848\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 translation-block\">CentoGenome\u6db5\u84cb\u7bc4\u570d\u5ee3\u6cdb\n\u6db5\u84cb7000\u7a2e\u7f55\u898b\u75be\u75c5\u7684\u75be\u75c5\u8b5c\uff0c\u70ba\u60a8\u63d0\u4f9b\u5354\u52a9\n<br><br>\n\u61c9\u5c0d\u5177\u6709\u6311\u6230\u6027\u548c\u672a\u78ba\u8a3a\u7684\u75be\u75c5\n\u6db5\u84cb\u5404\u500b\u751f\u547d\u968e\u6bb5\u7684\u60a3\u8005\u75c5\u4f8b\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=\"ultrafast\">\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\">\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\">CENTOGENE \u63d0\u4f9b\u591a\u5143\u4e14\u5f48\u6027\u7684\u6aa2\u6e2c\u65b9\u6848\u53ca\u52a0\u503c\u670d\u52d9\uff0c\u4f9d\u64da\u4e0d\u540c\u60a3\u8005\u7684\u81e8\u5e8a\u9700\u6c42\u63d0\u4f9b\u6700\u5408\u9069\u7684\u8a3a\u65b7\u89e3\u6c7a\u65b9\u6848\u3002\u6211\u5011\u7684\u670d\u52d9\u5305\u62ec\u9069\u7528\u65bc\u80ce\u5152\u7570\u5e38\u598a\u5a20\u7684\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08CentoGenome Prenatal\uff09\uff0c\u4ee5\u53ca\u6574\u5408\u591a\u7a2e\u9ad4\u5b78\u8cc7\u6599\u7684\u6700\u65b0\u591a\u9ad4\u5b78\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08CentoGenome MOx 1.0 \u8207 CentoGenome MOx 2.0\uff09\uff0c\u5efa\u7acb\u66f4\u5b8c\u6574\u7684\u81e8\u5e8a\u5168\u8c8c\uff0c\u5354\u52a9\u63d0\u5347\u8a3a\u65b7\u6e96\u78ba\u6027\u3002\u66f4\u591a\u7522\u54c1\u8cc7\u8a0a\uff0c\u8acb\u53c3\u95b1\u4e0b\u65b9\u6bd4\u8f03\u8868\u3002<br>&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5168\u65b0\u63a8\u51fa<\/strong><br>\u63a8\u85a6\u7528\u65bc\u91cd\u75c7\u7167\u8b77\u3001\u52a0\u8b77\u75c5\u623f\u53ca\u7dca\u6025\u91ab\u7642\u60c5\u5883&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5c0d\u65bc\u91cd\u75c7\u60a3\u8005\u800c\u8a00\uff0c\u5feb\u901f\u8a3a\u65b7\u5f80\u5f80\u662f\u53ca\u6642\u4e14\u9069\u5207\u91ab\u7642\u8655\u7f6e\u7684\u95dc\u9375\u3002\u8fd1\u5e74\u591a\u9805\u7814\u7a76\u986f\u793a\uff0c\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u6191\u85c9\u5176\u9ad8\u8a3a\u65b7\u7387\u53ca\u5feb\u901f\u6aa2\u6e2c\u6642\u6548\uff0c\u53ef\u6709\u6548\u5354\u52a9\u65b0\u751f\u5152\u52a0\u8b77\u75c5\u623f\uff08NICU\uff09\u53ca\u5152\u7ae5\u52a0\u8b77\u75c5\u623f\uff08PICU\uff09\u4e2d\u7684\u91cd\u75c7\u65b0\u751f\u5152\u8207\u5152\u7ae5\u505a\u51fa\u66f4\u5b8c\u5584\u7684\u81e8\u5e8a\u6c7a\u7b56\u3002<sup>8-14<\/sup>&nbsp;<strong>CentoGenome Ultra-Fast \u53ef\u65bc5 \u500b\u5de5\u4f5c\u5929\u5167\u5b8c\u6210\u6aa2\u6e2c<\/strong>\uff0c\u517c\u5177\u5168\u9762\u6027\u8207\u9ad8\u6e96\u78ba\u5ea6\uff0c\u7279\u5225\u9069\u5408\u4f5c\u70ba\u91cd\u75c7\u65b0\u751f\u5152\u53ca\u5152\u7ae5\u7684\u7b2c\u4e00\u7dda\u8a3a\u65b7\u5de5\u5177\uff0c\u5354\u52a9\u91ab\u7642\u5718\u968a\u66f4\u5feb\u901f\u505a\u51fa\u95dc\u9375\u91ab\u7642\u6c7a\u7b56\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&amp;query=Ultra-Fast\" target=\"_blank\" rel=\"noreferrer noopener\">\u8a02\u8cfc CentoGenome Ultra-Fast<\/a><br>&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><br>\u81f4\u529b\u65bc\u6539\u5584\u60a3\u8005\u7684\u751f\u547d\u54c1\u8cea&nbsp;<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">CENTOGENE \u63d0\u4f9b\u5f48\u6027\u7684\u6aa2\u6e2c\u65b9\u6848\u53ca\u591a\u5143\u52a0\u503c\u670d\u52d9\uff0c\u4f9d\u64da\u60a3\u8005\u7684\u81e8\u5e8a\u9700\u6c42\u91cf\u8eab\u6253\u9020\u8a3a\u65b7\u89e3\u6c7a\u65b9\u6848\u3002\u6211\u5011\u66f4\u900f\u904e\u514d\u8cbb\u57fa\u56e0\u8b8a\u7570\u91cd\u65b0\u5206\u985e\uff08Variant Reclassification\uff09\u53ca\u7d93\u6fdf\u5be6\u60e0\u7684\u500b\u6848\u91cd\u65b0\u5206\u6790\uff08Case-level Reanalysis\uff09\u670d\u52d9\uff0c\u63d0\u4f9b\u7d42\u8eab\u8a3a\u65b7\u652f\u6301\uff0c\u6301\u7e8c\u5354\u52a9\u91ab\u5e2b\u8207\u60a3\u8005\u53d7\u76ca\u65bc\u6700\u65b0\u7684\u91ab\u5b78\u767c\u73fe\u3002&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th colspan=\"4\">\u6aa2\u6e2c\u65b9\u6848\u8207\u52a0\u503c\u670d\u52d9<\/th><\/tr><\/thead><tbody><tr><th colspan=\"1\">\u6aa2\u6e2c\u8a2d\u8a08<sup>*<\/sup><\/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 colspan=\"4\">\u6aa2\u6e2c\u65b9\u6848<\/th><\/tr><tr><th>CentoGenome<\/th><td colspan=\"2\">\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7684\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\uff08\u7522\u5f8c\u6aa2\u6e2c\uff09\u3002\u6aa2\u6e2c\u6642\u7a0b\uff08TAT\uff09\uff1a\u226420 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th>CentoGenome MOx<sup>**<\/sup><\/th><td colspan=\"2\">\u6574\u5408 WGS\u3001\u751f\u5316\u6aa2\u6e2c\u53ca\uff0f\u6216 RNA \u5b9a\u5e8f\u7684\u4e00\u7ad9\u5f0f\u591a\u9ad4\u5b78\uff08Multiomics\uff09\u6aa2\u6e2c\u65b9\u6848\uff0c\u652f\u63f4\u526a\u63a5\u8b8a\u7570\uff08Splicing Variants\uff09\u5206\u6790\u3002CentoGenome MOx 1.0\uff1a\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7522\u5f8c\u6aa2\u6e2c\uff0cTAT\uff1a\u226420 \u500b\u5de5\u4f5c\u5929\uff1bCentoGenome MOx 2.0\uff1a\u9069\u7528\u65bc\u7f55\u898b\u75be\u75c5\u53ca\u795e\u7d93\u9000\u5316\u6027\u75be\u75c5\u7522\u5f8c\u6aa2\u6e2c\uff0cTAT\uff1a\u226435 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th>CentoGenome Prenatal<sup>***<\/sup><\/th><td colspan=\"2\">\u9069\u7528\u65bc\u7522\u524d\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\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>CentoGenome POC<sup>***<\/sup><\/th><td colspan=\"2\">\u9069\u7528\u65bc\u6d41\u7522\u7d44\u7e54\uff08Products of Conception, POC\uff09\u5168\u57fa\u56e0\u9ad4\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\u65b9\u6cd5\u7121\u6cd5\u7372\u5f97\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\u226420 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th>CentoGenome Variants<\/th><td colspan=\"2\">\u63d0\u4f9b\u7814\u7a76\u7528\u9014\u7684 WGS \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>CentoGenome Ultra-Fast<\/th><td colspan=\"2\">TAT\uff1a\u22645 \u500b\u5de5\u4f5c\u5929\u3002<\/td><\/tr><tr><th colspan=\"4\">\u52a0\u503c\u670d\u52d9<\/th><\/tr><tr><th>FAST \u5feb\u901f\u8655\u7406<\/th><td colspan=\"2\">\u226415 \u500b\u5de5\u4f5c\u5929\uff08\u4e0d\u9069\u7528\u65bc CentoGenome MOx 2.0\uff09<\/td><\/tr><tr><th>\u514d\u8cbb\u63d0\u4f9b\u539f\u59cb\u8cc7\u6599<\/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>\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\uff0c\u81ea\u6aa2\u9ad4\u65bc CENTOGENE Rostock \u5be6\u9a57\u5ba4\u5b8c\u6210\u767b\u9304\u8d77\u7b97\uff0c\u81f3\u6aa2\u6e2c\u5831\u544a\u4e0a\u50b3\u81f3 CentoPortal \u70ba\u6b62\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 WGS \u70ba\u57fa\u790e\u7684\u7c92\u7dda\u9ad4\u57fa\u56e0\u9ad4\u5206\u6790\uff0c\u4ee5\u53ca\u55ae\u89aa\u4e8c\u500d\u9ad4\uff08UPD\uff09\u3001\u91cd\u8907\u5e8f\u5217\u64f4\u589e\uff08Repeat Expansions\uff09\u3001<em>SMN1<\/em>\/<em>SMN2<\/em> \u62f7\u8c9d\u6578\u8b8a\u7570\uff08CNVs\uff09\u53ca <em>GBA1<\/em> \u57fa\u56e0\u8f49\u63db\uff08Gene Conversion\uff09\u5206\u6790\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\/%e5%89%b5%e6%96%b0\/%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<\/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=\"683\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920-1024x683.webp\" alt=\"\" class=\"wp-image-1511\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920-1024x683.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920-1500x1000.webp 1500w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920-768x512.webp 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920-1536x1024.webp 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/CentoGenome_Banner_Tailored_Testing_1920.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\">\u9818\u5148\u696d\u754c\u7684\u91ab\u5b78\u5831\u544a\u8207\u6df1\u5ea6\u81e8\u5e8a\u6d1e\u5bdf&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5728\u6578\u767e\u842c\u500b\u57fa\u56e0\u8b8a\u7570\u4e2d\u627e\u51fa\u771f\u6b63\u7684\u81f4\u75c5\u8b8a\u7570\uff0c\u662f\u907a\u50b3\u75be\u75c5\u8a3a\u65b7\u4e2d\u6700\u5927\u7684\u6311\u6230\u4e4b\u4e00\u3002\u5168\u65b0 CentoGenome \u7d50\u5408 CENTOGENE \u5206\u6790\u5168\u7403\u6578\u842c\u4f8b\u57fa\u56e0\u9ad4\u8207\u5916\u986f\u5b50\u9ad4\u8cc7\u6599\u7684\u8c50\u5bcc\u7d93\u9a57\uff0c\u5354\u52a9\u91ab\u5e2b\u66f4\u6709\u6548\u8a3a\u65b7\u7591\u4f3c\u907a\u50b3\u75be\u75c5\u60a3\u8005\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u9078\u64c7 CENTOGENE \u7684\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\u670d\u52d9\uff0c\u91ab\u5e2b\u3001\u60a3\u8005\u53ca\u5408\u4f5c\u5925\u4f34\u7686\u53ef\u7372\u5f97\u63a1\u7528\u5148\u9032 PCR-free WGS \u6280\u8853\u6240\u7522\u51fa\u7684\u9ad8\u54c1\u8cea\u5b9a\u5e8f\u7d50\u679c\uff0c\u4e26\u7d50\u5408\u5168\u81ea\u52d5 CE-IVD \u751f\u7269\u8cc7\u8a0a\u5206\u6790\u6d41\u7a0b\uff0c\u63d0\u4f9b\u53ef\u9760\u4e14\u7cbe\u6e96\u7684\u8cc7\u6599\u5206\u6790\u3002\u96a8\u5f8c\uff0c\u7531\u7d93\u9a57\u8c50\u5bcc\u7684\u81e8\u5e8a\u907a\u50b3\u5c08\u5bb6\u53ca\u79d1\u5b78\u5718\u968a\u9032\u884c\u56b4\u8b39\u7684\u91ab\u5b78\u5224\u8b80\uff0c\u9010\u4e00\u5be9\u67e5\u6bcf\u4efd\u6aa2\u6e2c\u5831\u544a\u3002\u5fc5\u8981\u6642\uff0c\u6211\u5011\u5c07\u514d\u8cbb\u63a1\u7528\u6b63\u4ea4\u6aa2\u6e2c\u65b9\u6cd5\uff08Orthogonal Methods\uff09\u9032\u884c\u78ba\u8a8d\u6027\u6aa2\u6e2c\uff0c\u4e26\u7d50\u5408 CENTOGENE \u751f\u7269\u8cc7\u6599\u5eab\uff08Biodatabank\uff09\u9a57\u8b49\u6aa2\u6e2c\u7d50\u679c\u53ca\u57fa\u56e0\u8b8a\u7570\u7684\u81f4\u75c5\u6027\uff0c\u78ba\u4fdd\u6bcf\u4e00\u4efd\u91ab\u5b78\u5831\u544a\u5747\u5177\u5099\u696d\u754c\u9818\u5148\u7684\u54c1\u8cea\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\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<\/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-351\">\n      <button class=\"accordion-button collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#item-351\" aria-expanded=\"false\" aria-controls=\"item-351\">\n      \u6df1\u5165\u4e86\u89e3\u91ab\u5b78\u5831\u544a      <\/button>\n    <\/h2>\n    <div id=\"item-351\" class=\"accordion-collapse collapse\" aria-labelledby=\"heading-351\" 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-large imgshadow\"><img loading=\"lazy\" decoding=\"async\" width=\"1500\" height=\"844\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene-pharma_what-we-do-for-pharma-header-1500x844.webp\" alt=\"\" class=\"wp-image-1510\" srcset=\"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-1024x576.webp 1024w, 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: 1500px) 100vw, 1500px\" \/><\/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=\"CentoGenome MOX 2.0\" \/>-->\n            <\/div>\n                <div class=\"row\">\n                        <div class=\"col-12 col-md-6 animation fadeLeft text-wrapper\">\n                                <div class=\"bl-titulo mt-3\">CentoGenome MOX 2.0<\/div>\n\n                <p class=\"bl-texto\">\u904b\u7528 RNA \u5b9a\u5e8f\uff0c\u5be6\u73fe\u7cbe\u6e96\u91ab\u7642<\/p>                                <div class=\"mt-0 mb-3\">\n                    <a href=\"https:\/\/www.centoportal.com\/order\/new\/products\/analysis-method?queryType=TEST&#038;query=Ultra-Fast\"\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-996\">\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-996\" >\r\n                <a href=\"#tab-body-downloads-996\"  data-id=\"996\">\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-996\" >\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-361-Product-Sheet-\u2013-CentoGenome-V7.0-Web-pdf-402x400.jpg\" alt=\"CentoGenome\u00ae\uff5c\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\">CentoGenome\u00ae\uff5c\u7522\u54c1\u624b\u518a<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f <br>\nWhole Genome Sequencing, WGS<\/p>                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2024\/05\/MAmaterial-361-Product-Sheet-\u2013-CentoGenome-V7.0-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-472_CentoGenome_Ultra_Fast_Flyer_V2.0_Web-pdf-283x400.jpg\" alt=\"CentoGenome\u00ae Ultra-Fast\uff5c\u7522\u54c1\u8cc7\u8a0a\u55ae\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">CentoGenome\u00ae Ultra-Fast\uff5c\u7522\u54c1\u8cc7\u8a0a\u55ae<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f\uff08WGS\uff09\uff0c\u50c5\u9700 5 \u500b\u5de5\u4f5c\u5929\u5373\u53ef\u5b8c\u6210\u6aa2\u6e2c<\/p>                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/MAmaterial-472_CentoGenome_Ultra_Fast_Flyer_V2.0_Web.pdf\" target=\"_blank\" class=\"btn btn-2\">\u82f1\u6587<\/a>\r\n                                \r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/MAmaterial-473_CentoGenome_Ultra_Fast_Flyer_-_Spanish_V2.0_Web.pdf\" target=\"_blank\" class=\"btn btn-2\">\u897f\u73ed\u7259\u6587<\/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-996\" >\r\n                <a href=\"#tab-body-webinars-996\"  data-id=\"996\">\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-996\" >\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\/centocustom-panel\/\" rel=\"bookmark\" title=\"CentoCustom Panel \u2013 Hands-On Precision Medicine\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">CentoCustom Panel \u2013 Hands-On Precision Medicine<\/h4>\r\n                                    <\/a>\r\n                                    \u82f1\u6587\u5834\u6b21\uff1a\u6bcf\u4f4d\u60a3\u8005\u90fd\u662f\u7368\u4e00\u7121\u4e8c\uff0c\u56e0\u6b64\u8a3a\u65b7\u7b56\u7565\u4e5f\u61c9\u56e0\u4eba\u800c\u7570\u3002CentoCustom Panel \u8b93\u91ab\u5e2b\u53ef\u4f9d\u64da\u60a3\u8005\u7684\u81e8\u5e8a\u9700\u6c42\uff0c\u81ea\u8a02\u5c08\u5c6c\u7684\u57fa\u56e0\u6aa2\u6e2c\u5957\u7d44\uff0c\u63d0\u4f9b\u66f4\u7cbe\u6e96\u3001\u66f4\u4ee5\u60a3\u8005\u70ba\u4e2d\u5fc3\u7684\u907a\u50b3\u6aa2\u6e2c\u65b9\u6848\uff0c\u91cd\u65b0\u5b9a\u7fa9\u907a\u50b3\u75be\u75c5\u8a3a\u65b7\u6a21\u5f0f\u3002                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2025-11-17\" pubdate>2025 \u5e74 11 \u6708 17 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/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\/centocustom-panel\/\" rel=\"bookmark\" title=\"CentoCustom Panel \u2013 Hands-On Precision Medicine\" 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\/the-fastest-and-most-accurate-diagnosis-for-your-patients-sharing-real-clinical-cases-eng\/\" rel=\"bookmark\" title=\"The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases<\/h4>\r\n                                    <\/a>\r\n                                    \u82f1\u6587\u5834\u6b21\uff1a\u4e86\u89e3 CentoGenome Ultra-Fast \u5982\u4f55\u900f\u904e\u771f\u5be6\u81e8\u5e8a\u6848\u4f8b\uff0c\u6539\u8b8a\u907a\u50b3\u75be\u75c5\u7684\u8a3a\u65b7\u65b9\u5f0f\uff0c\u5354\u52a9\u91ab\u5e2b\u66f4\u5feb\u901f\u505a\u51fa\u81e8\u5e8a\u6c7a\u7b56\u3002                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2025-04-17\" pubdate>2025 \u5e74 4 \u6708 17 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/the-fastest-and-most-accurate-diagnosis-for-your-patients-sharing-real-clinical-cases-eng\/\" rel=\"bookmark\" title=\"The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases\" 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\/the-fastest-and-most-accurate-diagnosis-for-your-patients-sharing-real-clinical-cases-spa\/\" rel=\"bookmark\" title=\"The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases\" class=\"bl-enlace\">\r\n                                    <h4 class=\"bl-titulo\">The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases<\/h4>\r\n                                    <\/a>\r\n                                     \u897f\u73ed\u7259\u6587\u5834\u6b21\uff1a\u4e86\u89e3 CentoGenome Ultra-Fast \u5982\u4f55\u900f\u904e\u771f\u5be6\u81e8\u5e8a\u6848\u4f8b\uff0c\u6539\u8b8a\u907a\u50b3\u75be\u75c5\u7684\u8a3a\u65b7\u65b9\u5f0f\uff0c\u5354\u52a9\u91ab\u5e2b\u66f4\u5feb\u901f\u505a\u51fa\u81e8\u5e8a\u6c7a\u7b56\u3002                                    <div class=\"bl-fecha\">\r\n                                     <time class=\"updated\" datetime=\"2025-04-17\" pubdate>2025 \u5e74 4 \u6708 17 \u65e5<\/time>                                     <\/div>\r\n                                    <div class=\"bl-topics\"><a href=\"https:\/\/www.centogene.com\/tw\/topic\/wgs\/\" class=\"cat-link\">WGS<\/a><\/div>  \r\n                                    <a href=\"https:\/\/www.centogene.com\/tw\/webinar\/the-fastest-and-most-accurate-diagnosis-for-your-patients-sharing-real-clinical-cases-spa\/\" rel=\"bookmark\" title=\"The Fastest and Most Accurate Diagnosis for Your Patients \u2013 Sharing Real Clinical Cases\" 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-996\" >\r\n                <a href=\"#tab-body-publications-996\"  data-id=\"996\">\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-996\" >\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\">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\/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                    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to WGS Guidelines for Rare Disease Diagnostics\" class=\"btn btn-2\" target=\"_blank\">\u95b1\u8b80\u51fa\u7248\u54c1 <\/a>\r\n                                                                        <\/div>\r\n                                <\/div>\r\n                            <\/article>\r\n                                         <div class=\"text-center\">\r\n                                            <a href=\"\/tw\/%e8%b3%87%e6%ba%90\/%e7%a7%91%e5%ad%b8%e7%a0%94%e7%a9%b6%e7%99%bc%e8%a1%a8\/?topic=wes#publicationsblock\" class=\"btn btn-primary\">\u770b\u66f4\u591a\u51fa\u7248\u54c1<\/a>                        \r\n                                        <\/div>\r\n                <\/div>                  \r\n\r\n            <\/div>\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-996 .tab-body\").first().addClass(\"active\");\r\n    jQuery(\"#tabs-group-996 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25951830\uff1b\n\n<sup>3<\/sup> Chinese Medical Doctor Association Medical Genetics Branch 2019, PMID: 31216797\uff1b\n\n<sup>4<\/sup> Manickam et al. 2021, PMID: 34211152\uff1b\n\n<sup>5<\/sup> Sachdev et al. 2021, PMID: 33566436\uff1b\n\n<sup>6<\/sup> Souche et al. 2022, PMID: 35577938\uff1b\n\n<sup>7<\/sup> Bertoli-Avella et al. 2020, PMID: 32860008\uff1b\n\n<sup>8<\/sup> Kingsmore et al. 2019, PMID: 31564432\uff1b\n\n<sup>9<\/sup> Petrikin et al. 2018, PMID: 29449963\uff1b\n\n<sup>10<\/sup> Soden et al. 2014, PMID: 25473036\uff1b\n\n<sup>11<\/sup> Van Diemen et al. 2017, PMID: 28939701\uff1b\n\n<sup>12<\/sup> Willig et al. 2015, PMID: 25937001\uff1b\n\n<sup>13<\/sup> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36086948\/\" target=\"_blank\" rel=\"noreferrer noopener\">Jezkova et al. 2022, PMID: 36086948<\/a>\uff1b\n\n<sup>14<\/sup> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23035047\/\" target=\"_blank\" rel=\"noreferrer noopener\">Saunders et al. 2012, PMID: 23035047<\/a>\uff1b\n\n<sup>15<\/sup> Clinical Genome Resource\uff08ClinGen\uff09\u3002<a href=\"https:\/\/www.clinicalgenome.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.clinicalgenome.org\/<\/a>\uff1b\n\n<sup>16<\/sup> Miller et al. 2021, PMID: 34012069\uff1b\n\n<sup>17<\/sup> Richards et al. 2015, PMID: 25741868\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\" 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