{"id":7960,"date":"2025-11-13T18:20:03","date_gmt":"2025-11-13T18:20:03","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7960"},"modified":"2025-12-25T18:51:51","modified_gmt":"2025-12-25T18:51:51","slug":"sintomas-que-incrementan-la-probabilidad-de-diagnostico-en-ngs-yield","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/sintomas-que-incrementan-la-probabilidad-de-diagnostico-en-ngs-yield\/","title":{"rendered":"S\u00edntomas que incrementan la probabilidad de diagn\u00f3stico en NGS (yield)."},"content":{"rendered":"\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2025\/11\/image-6-778x1024.png\" alt=\"\" class=\"wp-image-7961\"\/><\/figure>\n\n\n\n<p>Los estudios de secuenciaci\u00f3n de nueva generaci\u00f3n (NGS) presentan rendimientos diagn\u00f3sticos variables seg\u00fan las caracter\u00edsticas cl\u00ednicas del paciente. Ciertos s\u00edntomas y hallazgos fenot\u00edpicos se han asociado consistentemente con una mayor probabilidad de obtener un diagn\u00f3stico gen\u00e9tico definitivo. Entre estos se incluyen la discapacidad intelectual, las malformaciones cong\u00e9nitas m\u00faltiples, la epilepsia de inicio temprano, los trastornos del neurodesarrollo y los rasgos dism\u00f3rficos. Reconocer estos indicadores cl\u00ednicos permite optimizar la selecci\u00f3n de pacientes candidatos a pruebas gen\u00f3micas, mejorando as\u00ed la eficiencia diagn\u00f3stica y el uso de recursos en la pr\u00e1ctica cl\u00ednica.<\/p>\n\n\n<div id=\"zotpress-09c4ecef1bc8f8e52328fa95a3cc284b\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:6NF5966C}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span 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id=\"zp-ID-7960-332710-6NF5966C\" data-zp-author-date='Schmidt-et-al.-2024-08' data-zp-date-author='2024-08-Schmidt-et-al.' data-zp-date='2024-08' data-zp-year='2024' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, et al. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings. Nat Genet [Internet]. 2024 Aug [cited 2025 Nov 13];56(8):1644\u201353. Available from: <a class='zp-ItemURL' href='https:\/\/www.nature.com\/articles\/s41588-024-01836-1'>https:\/\/www.nature.com\/articles\/s41588-024-01836-1<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Los estudios de secuenciaci\u00f3n de nueva generaci\u00f3n (NGS) presentan rendimientos diagn\u00f3sticos variables seg\u00fan las caracter\u00edsticas cl\u00ednicas del paciente. Ciertos s\u00edntomas y hallazgos fenot\u00edpicos se han asociado consistentemente con una mayor probabilidad de obtener un diagn\u00f3stico gen\u00e9tico definitivo. Entre estos se incluyen la discapacidad intelectual, las malformaciones cong\u00e9nitas m\u00faltiples, la epilepsia de inicio temprano, los trastornos &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/sintomas-que-incrementan-la-probabilidad-de-diagnostico-en-ngs-yield\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abS\u00edntomas que incrementan la probabilidad de diagn\u00f3stico en NGS (yield).\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7961,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7960","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7960","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7960"}],"version-history":[{"count":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7960\/revisions"}],"predecessor-version":[{"id":8020,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7960\/revisions\/8020"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7961"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7960"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7960"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7960"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}