{"id":2699,"date":"2026-08-19T18:23:53","date_gmt":"2026-08-19T18:23:53","guid":{"rendered":"https:\/\/genolifeadn.com\/?p=2699"},"modified":"2026-08-19T18:34:43","modified_gmt":"2026-08-19T18:34:43","slug":"que-puede-hacer-por-ti-la-secuenciacion-del-exoma","status":"publish","type":"post","link":"https:\/\/genolifeadn.com\/en\/que-puede-hacer-por-ti-la-secuenciacion-del-exoma\/","title":{"rendered":"What can exome sequencing do for you?"},"content":{"rendered":"
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\n\t\t\t\t\t\t\t\t\tWhat can exome sequencing do for you?\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t
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At\u00a0Genolife Laboratory<\/strong>\u00a0We work closely with specialists who are looking for\u00a0efficient detection methods<\/strong>.<\/p>\n

One of the cases in which we recently performed exome sequencing at Genolife was that of Andr\u00e9s, in collaboration with the\u00a0Dr. Valeria Montes, Medical Geneticist\u00a0<\/strong>who pointed him toward us.<\/p>\n

Andr\u00e9s, 21, first began experiencing his current condition at age 15, with decreased strength in his hands, difficulty moving, frequent involuntary movements, changes in his voice, and frequent falls.<\/p>\n

After several years, misdiagnoses, and a decline in his quality of life, Andr\u00e9s is now,\u00a0He was diagnosed correctly<\/strong>\u00a0with Wilson's disease, so we perform the\u00a0We performed whole-exome sequencing and were subsequently able to detect variants associated with that disease in our laboratory<\/strong>.<\/p>\n

Thanks to this, Andr\u00e9s is already receiving a specific treatment<\/strong>\u00a0which will help you enjoy a better quality of life.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Wilson's Disease\u00a0It is an inherited disorder<\/strong>\u00a0rare condition that causes a\u00a0copper accumulation in the liver, brain, and other vital organs<\/strong>.<\/p>\n

Copper plays a key role in the development of healthy nerves, bones, collagen, and melanin, the skin's pigments. However, in people with Wilson's disease,\u00a0Copper is not being removed properly<\/strong>\u00a0Instead, it builds up, possibly to a level that poses a risk to life.\u00a0<\/p>\n

When diagnosed early, Wilson's disease is treatable<\/strong>, and many people with this disorder lead normal lives.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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We firmly believe that the\u00a0exome analysis<\/strong>\u00a0would help in many cases to a\u00a0rapid disease detection<\/strong>\u00a0caused by mutations in\u00a0a shorter time<\/strong>\u00a0and prevent the damage they may cause, since choosing a\u00a0targeted treatment or therapy<\/strong>\u00a0As soon as possible, this would improve the quality of life and life expectancy of people who suffer from these conditions.<\/p>\n

Currently,\u00a0whole-exome sequencing<\/strong>, also known in English as\u00a0Whole-Exome Sequencing<\/em>\u00a0<\/em>(WES)<\/em>\u00a0It is mainly used for\u00a0the detection of variants (mutations)<\/strong>\u00a0rare in patients with a suspected genetic disorder.<\/p>\n

The use of exome sequencing for screening holds the promise of\u00a0reduce the diagnostic ordeal for many patients<\/strong>. By 2013 alone, it was reported that this technique had led to the identification of more than 180 distinct new disease-causing genes, which is why it has been classified as a highly efficient screening method.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Whole-exome sequencing<\/strong>\u00a0is a\u00a0approach<\/strong>\u00a0cost-effective and efficient<\/strong>\u00a0which has provided an opportunity to detect disease-causing variants in virtually all coding regions of the genome. It is becoming increasingly common to use exome sequencing to\u00a0provide disease risk predictions<\/strong>, which can influence their lifestyle choices and decisions.<\/p>\n

In addition, its\u00a0The cost has been drastically reduced today\u00a0<\/strong>making it accessible to more people, and it is becoming increasingly popular because of its\u00a0the ability to study most of the genome, as well as its mutations.<\/strong><\/p>\n

Sequencing is and will remain the technique of choice for the accurate diagnosis of genetic conditions.<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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\n\t\t\t\t\t\t\t\t\tSchedule an appointment with our specialists.\n\t\t\t\t\t\t\t\t<\/div>\n\t\t
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\u00bfQu\u00e9 puede hacer por ti la secuenciaci\u00f3n del exoma? En\u00a0laboratorio Genolife\u00a0trabajamos de la mano con especialistas que buscan\u00a0m\u00e9todos de detecci\u00f3n eficientes. Uno de los casos donde realizamos la secuenciaci\u00f3n de exoma recientemente en Genolife, ha sido el de Andr\u00e9s, trabajando en conjunto con la\u00a0Dra. Valeria Montes, m\u00e9dico Genetista\u00a0quien lo dirigi\u00f3 hacia nosotros. Andr\u00e9s de 21 […]<\/p>\n","protected":false},"author":1,"featured_media":2704,"comment_status":"open","ping_status":"open","sticky":false,"template":"elementor_header_footer","format":"standard","meta":{"_joinchat":[],"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2699","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categoria"],"_links":{"self":[{"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/posts\/2699","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/comments?post=2699"}],"version-history":[{"count":7,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/posts\/2699\/revisions"}],"predecessor-version":[{"id":2707,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/posts\/2699\/revisions\/2707"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/media\/2704"}],"wp:attachment":[{"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/media?parent=2699"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/categories?post=2699"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genolifeadn.com\/en\/wp-json\/wp\/v2\/tags?post=2699"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}