{"id":7822,"date":"2024-02-15T18:43:02","date_gmt":"2024-02-15T17:43:02","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7822"},"modified":"2024-02-15T18:47:01","modified_gmt":"2024-02-15T17:47:01","slug":"pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/","title":{"rendered":"PGT-M: Preimplantation Genetic Testing for familial Monogenic diseases"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"7822\" class=\"elementor elementor-7822\">\n\t\t\t\t<div class=\"elementor-element elementor-element-0c72d23 e-flex e-con-boxed e-con e-parent\" data-id=\"0c72d23\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-bcf473d elementor-widget elementor-widget-spacer\" data-id=\"bcf473d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-c938391 e-flex e-con-boxed e-con e-parent\" data-id=\"c938391\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6b88b9d elementor-widget elementor-widget-text-editor\" data-id=\"6b88b9d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h2>Former name PGD: Preimplantation Genetic Diagnosis for monogenic diseases<\/h2>\n\n<p>Preimplantation genetic testing for monogenic diseases (PGT-M) is a targeted diagnosis of specific severe familial monogenic diseases (autosomal recessive, autosomal dominant, or X-linked), where there is a high risk of giving birth to an affected child. This examination is always conducted based on the indication of a clinical geneticist after evaluating the family history.<\/p>\n\n<h3>INDICATIONS FOR TESTING:<\/h3>\n\n<p>\u2022 Carrier of a predisposition (mutation) for a severe genetic disease caused by a defect in a single gene in one or both partners, which is associated with a high risk of giving birth to a child affected by the disease.<\/p>\n\n<h3>TESTING METHODS:<\/h3>\n\n<p>PGT-M is performed on the <a href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/karyomapping\/\"><strong>Karyomapping platform (Illumina)<\/strong><\/a>, which allows robust testing of monogenic diseases based on indirect diagnosis and also provides an indicative screening for quantitative changes in all chromosomes (PGT-A). We ensure testing for monogenic diseases (PGT-M) in collaboration with contracted laboratories.<\/p>\n\n<h3>TISSUES EXAMINED:<\/h3>\n\n<p>The examination is performed <a href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/vysetrovane-tkane\/\"><strong>on trophectoderm cells<\/strong><\/a>\n taken on the 5th-6th day of embryo development. Only exceptionally, if for some reason trophectoderm cells cannot be obtained, it may be performed on&nbsp;<a href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/vysetrovane-tkane\/\"><strong>blastomeres<\/strong><\/a>.<\/p>\n\n<h3>COURSE OF THERAPY:<\/h3>\n\n<p>If you decide to undergo therapy with preimplantation testing, its course will be similar to \"usual\" therapy with IVF-ICSI. The only difference will be that a biopsy will be performed on the embryo on the 5th-6th day of development \u2013 that is, the <strong><a href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/vysetrovane-tkane\/\">removal of several trophectoderm cells<\/a><\/strong>. This sample will then be tested in a genetic laboratory, and the biopsied embryos will be frozen. Once the test results are available, the IVF-ICSI cycle will continue with the transfer of a healthy embryo.<\/p>\n\n<p>see <strong><a href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/prubeh-terapie-s-preimplantacnim-genetickym-vysetrenim\/\">Course of therapy with preimplantation genetic testing<\/a><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-4ee4546 e-flex e-con-boxed e-con e-parent\" data-id=\"4ee4546\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-9a315cf elementor-widget elementor-widget-image\" data-id=\"9a315cf\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"775\" height=\"440\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping.png\" class=\"attachment-large size-large wp-image-7824\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping.png 775w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping-300x170.png 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping-768x436.png 768w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping-18x10.png 18w\" sizes=\"(max-width: 775px) 100vw, 775px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-4a0b89d e-flex e-con-boxed e-con e-parent\" data-id=\"4a0b89d\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-78af3b8 elementor-widget elementor-widget-image\" data-id=\"78af3b8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"730\" height=\"344\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/karyomapping_2.png\" class=\"attachment-large size-large wp-image-7825\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/karyomapping_2.png 730w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/karyomapping_2-300x141.png 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/karyomapping_2-18x8.png 18w\" sizes=\"(max-width: 730px) 100vw, 730px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-7da9774 e-flex e-con-boxed e-con e-parent\" data-id=\"7da9774\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-5133563 elementor-widget elementor-widget-spacer\" data-id=\"5133563\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>star\u0161\u00ed n\u00e1zev PGD:&nbsp;Preimplanta\u010dn\u00ed Genetick\u00e1 Diagnostika pro&nbsp;monogenn\u00ed onemocn\u011bn\u00ed Preimplata\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed monogenn\u00edch onemocn\u011bn\u00ed (PGT-M) je c\u00edlen\u00e1 diagnostika konkr\u00e9tn\u00edch z\u00e1va\u017en\u00fdch famili\u00e1rn\u00edch monogenn\u00edch onemocn\u011bn\u00ed (autosom\u00e1ln\u011b recesivn\u00edch, autosom\u00e1ln\u011b dominantn\u00edch nebo&nbsp;X-v\u00e1zan\u00fdch), kde je vysok\u00e9 riziko narozen\u00ed posti\u017een\u00e9ho d\u00edt\u011bte. Toto vy\u0161et\u0159en\u00ed je v\u017edy prov\u00e1d\u011bno na&nbsp;z\u00e1klad\u011b indikace klinick\u00e9ho genetika po&nbsp;zhodnocen\u00ed rodinn\u00e9 anamn\u00e9zy. INDIKACE K&nbsp;VY\u0160ET\u0158EN\u00cd: \u2022 Nosi\u010dstv\u00ed predispozice (mutace) pro&nbsp;z\u00e1va\u017en\u00e9 genetick\u00e9 onemocn\u011bn\u00ed zp\u016fsoben\u00e9 [&hellip;]<\/p>","protected":false},"author":9,"featured_media":0,"parent":7368,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"service-area":[32],"class_list":["post-7822","page","type-page","status-publish","hentry","service-area-vysetreni-reprodukcni-genetiky"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>PGT-M: Preimplanta\u010dn\u00ed Genetick\u00e9 Testov\u00e1n\u00ed pro famili\u00e1rn\u00ed Monogenn\u00ed onemocn\u011bn\u00ed | Genetika Plze\u0148<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"PGT-M: Preimplanta\u010dn\u00ed Genetick\u00e9 Testov\u00e1n\u00ed pro famili\u00e1rn\u00ed Monogenn\u00ed onemocn\u011bn\u00ed | Genetika Plze\u0148\" \/>\n<meta property=\"og:description\" content=\"star\u0161\u00ed n\u00e1zev PGD:&nbsp;Preimplanta\u010dn\u00ed Genetick\u00e1 Diagnostika pro&nbsp;monogenn\u00ed onemocn\u011bn\u00ed Preimplata\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed monogenn\u00edch onemocn\u011bn\u00ed (PGT-M) je c\u00edlen\u00e1 diagnostika konkr\u00e9tn\u00edch z\u00e1va\u017en\u00fdch famili\u00e1rn\u00edch monogenn\u00edch onemocn\u011bn\u00ed (autosom\u00e1ln\u011b recesivn\u00edch, autosom\u00e1ln\u011b dominantn\u00edch nebo&nbsp;X-v\u00e1zan\u00fdch), kde je vysok\u00e9 riziko narozen\u00ed posti\u017een\u00e9ho d\u00edt\u011bte. Toto vy\u0161et\u0159en\u00ed je v\u017edy prov\u00e1d\u011bno na&nbsp;z\u00e1klad\u011b indikace klinick\u00e9ho genetika po&nbsp;zhodnocen\u00ed rodinn\u00e9 anamn\u00e9zy. INDIKACE K&nbsp;VY\u0160ET\u0158EN\u00cd: \u2022 Nosi\u010dstv\u00ed predispozice (mutace) pro&nbsp;z\u00e1va\u017en\u00e9 genetick\u00e9 onemocn\u011bn\u00ed zp\u016fsoben\u00e9 [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/\" \/>\n<meta property=\"og:site_name\" content=\"Genetika Plze\u0148\" \/>\n<meta property=\"article:modified_time\" content=\"2024-02-15T17:47:01+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping.png\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" 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Plze\u0148","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/","og_locale":"en_GB","og_type":"article","og_title":"PGT-M: Preimplanta\u010dn\u00ed Genetick\u00e9 Testov\u00e1n\u00ed pro famili\u00e1rn\u00ed Monogenn\u00ed onemocn\u011bn\u00ed | Genetika Plze\u0148","og_description":"star\u0161\u00ed n\u00e1zev PGD:&nbsp;Preimplanta\u010dn\u00ed Genetick\u00e1 Diagnostika pro&nbsp;monogenn\u00ed onemocn\u011bn\u00ed Preimplata\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed monogenn\u00edch onemocn\u011bn\u00ed (PGT-M) je c\u00edlen\u00e1 diagnostika konkr\u00e9tn\u00edch z\u00e1va\u017en\u00fdch famili\u00e1rn\u00edch monogenn\u00edch onemocn\u011bn\u00ed (autosom\u00e1ln\u011b recesivn\u00edch, autosom\u00e1ln\u011b dominantn\u00edch nebo&nbsp;X-v\u00e1zan\u00fdch), kde je vysok\u00e9 riziko narozen\u00ed posti\u017een\u00e9ho d\u00edt\u011bte. Toto vy\u0161et\u0159en\u00ed je v\u017edy prov\u00e1d\u011bno na&nbsp;z\u00e1klad\u011b indikace klinick\u00e9ho genetika po&nbsp;zhodnocen\u00ed rodinn\u00e9 anamn\u00e9zy. INDIKACE K&nbsp;VY\u0160ET\u0158EN\u00cd: \u2022 Nosi\u010dstv\u00ed predispozice (mutace) pro&nbsp;z\u00e1va\u017en\u00e9 genetick\u00e9 onemocn\u011bn\u00ed zp\u016fsoben\u00e9 [&hellip;]","og_url":"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/","og_site_name":"Genetika Plze\u0148","article_modified_time":"2024-02-15T17:47:01+00:00","og_image":[{"url":"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/Karyomapping.png"}],"twitter_card":"summary_large_image","schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/","url":"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/","name":"PGT-M: Preimplanta\u010dn\u00ed Genetick\u00e9 Testov\u00e1n\u00ed pro famili\u00e1rn\u00ed Monogenn\u00ed onemocn\u011bn\u00ed | Genetika Plze\u0148","isPartOf":{"@id":"https:\/\/genetika-plzen.nullable.group\/#website"},"datePublished":"2024-02-15T17:43:02+00:00","dateModified":"2024-02-15T17:47:01+00:00","breadcrumb":{"@id":"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/#breadcrumb"},"inLanguage":"en-GB","potentialAction":[{"@type":"ReadAction","target":["https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/pgt-m-preimplantacni-geneticke-testovani-pro-familiarni-monogenni-onemocneni\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/genetika-plzen.nullable.group\/"},{"@type":"ListItem","position":2,"name":"Vy\u0161et\u0159en\u00ed reproduk\u010dn\u00ed genetiky","item":"https:\/\/genetika-plzen.nullable.group\/vysetreni-reprodukcni-genetiky\/"},{"@type":"ListItem","position":3,"name":"PGT-M: Preimplanta\u010dn\u00ed Genetick\u00e9 Testov\u00e1n\u00ed pro famili\u00e1rn\u00ed Monogenn\u00ed onemocn\u011bn\u00ed"}]},{"@type":"WebSite","@id":"https:\/\/genetika-plzen.nullable.group\/#website","url":"https:\/\/genetika-plzen.nullable.group\/","name":"Genetika Plze\u0148","description":"Genetika Plze\u0148","publisher":{"@id":"https:\/\/genetika-plzen.nullable.group\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/genetika-plzen.nullable.group\/?s={search_term_string}"},"query-input":"required name=search_term_string"}],"inLanguage":"en-GB"},{"@type":"Organization","@id":"https:\/\/genetika-plzen.nullable.group\/#organization","name":"Genetika Plze\u0148","url":"https:\/\/genetika-plzen.nullable.group\/","logo":{"@type":"ImageObject","inLanguage":"en-GB","@id":"https:\/\/genetika-plzen.nullable.group\/#\/schema\/logo\/image\/","url":"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2022\/07\/logo2.svg","contentUrl":"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2022\/07\/logo2.svg","width":286,"height":95,"caption":"Genetika Plze\u0148"},"image":{"@id":"https:\/\/genetika-plzen.nullable.group\/#\/schema\/logo\/image\/"}}]}},"_links":{"self":[{"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/pages\/7822","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/comments?post=7822"}],"version-history":[{"count":4,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/pages\/7822\/revisions"}],"predecessor-version":[{"id":7836,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/pages\/7822\/revisions\/7836"}],"up":[{"embeddable":true,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/pages\/7368"}],"wp:attachment":[{"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/media?parent=7822"}],"wp:term":[{"taxonomy":"service-area","embeddable":true,"href":"https:\/\/genetika-plzen.nullable.group\/en\/wp-json\/wp\/v2\/service-area?post=7822"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}