{"id":236,"date":"2026-07-06T16:25:19","date_gmt":"2026-07-06T16:25:19","guid":{"rendered":"https:\/\/biogen.com.py\/index.php\/2026\/07\/06\/que-es-un-exoma-secuenciacion-del-exoma-completo\/"},"modified":"2026-07-07T13:47:03","modified_gmt":"2026-07-07T13:47:03","slug":"que-es-un-exoma-secuenciacion-del-exoma-completo","status":"publish","type":"post","link":"https:\/\/biogen.com.py\/index.php\/2026\/07\/06\/que-es-un-exoma-secuenciacion-del-exoma-completo\/","title":{"rendered":"\u00bfQu\u00e9 es un exoma y cu\u00e1ndo se recomienda?"},"content":{"rendered":"<p><em>El exoma es el conjunto de todas las regiones del ADN que contienen las instrucciones para fabricar prote\u00ednas (los exones). Aunque representa aproximadamente el 1% del genoma, en \u00e9l se encuentra alrededor del 85% de las variantes conocidas que causan enfermedad.<\/em><\/p>\n<h2>\u00bfPara qu\u00e9 sirve?<\/h2>\n<p>La secuenciaci\u00f3n del exoma completo (WES, por sus siglas en ingl\u00e9s) permite analizar a la vez las regiones codificantes de pr\u00e1cticamente todos los genes, en lugar de unos pocos. Suele indicarse cuando:<\/p>\n<ul>\n<li>Se sospecha una enfermedad hereditaria o rara y no est\u00e1 claro qu\u00e9 gen estudiar.<\/li>\n<li>Los estudios de un solo gen o de panel no lograron llegar a un diagn\u00f3stico.<\/li>\n<\/ul>\n<h2>\u00bfEn qu\u00e9 se diferencia de un panel?<\/h2>\n<p>Un panel analiza un n\u00famero limitado de genes ya seleccionados; el exoma analiza las regiones codificantes de casi todos los genes; y el genoma completo analiza todo el ADN, incluidas las regiones que no codifican prote\u00ednas.<\/p>\n<h2>L\u00edmites a tener en cuenta<\/h2>\n<p>El exoma no cubre bien las regiones que no codifican prote\u00ednas y puede detectar variantes de significado incierto o hallazgos secundarios. Por eso, el resultado debe ser interpretado por un especialista en gen\u00e9tica, con el asesoramiento adecuado.<\/p>\n<h3>Fuentes<\/h3>\n<ul>\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/understanding\/testing\/sequencing\/\" target=\"_blank\" rel=\"noopener nofollow\">MedlinePlus (NIH) \u2014 Secuenciaci\u00f3n del exoma y del genoma<\/a><\/li>\n<li><a href=\"https:\/\/www.genome.gov\/\" target=\"_blank\" rel=\"noopener nofollow\">NHGRI \u2014 Instituto Nacional de Investigaci\u00f3n del Genoma Humano<\/a><\/li>\n<\/ul>\n<hr \/>\n<p><em>Este contenido tiene fines informativos y educativos y no reemplaza la consulta con un profesional de la salud. La indicaci\u00f3n e interpretaci\u00f3n de cualquier estudio debe realizarla un profesional.<\/em><\/p>\n<p>En <strong>Biogen Paraguay<\/strong> realizamos estudios gen\u00e9ticos y de laboratorio con acompa\u00f1amiento profesional. M\u00e1s informaci\u00f3n: <a href=\"https:\/\/biogen.com.py\">biogen.com.py<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El exoma re\u00fane las regiones del ADN que codifican prote\u00ednas: ~1% del genoma, pero ~85% de las variantes causantes de enfermedad. Para qu\u00e9 sirve y sus l\u00edmites.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"class_list":["post-236","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/posts\/236","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/comments?post=236"}],"version-history":[{"count":1,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/posts\/236\/revisions"}],"predecessor-version":[{"id":243,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/posts\/236\/revisions\/243"}],"wp:attachment":[{"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/media?parent=236"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/categories?post=236"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/biogen.com.py\/index.php\/wp-json\/wp\/v2\/tags?post=236"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}