{"id":7389,"date":"2024-02-05T20:37:48","date_gmt":"2024-02-05T19:37:48","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7389"},"modified":"2024-10-07T17:30:03","modified_gmt":"2024-10-07T15:30:03","slug":"carrier-screening","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/en\/geneticka-ambulance\/carrier-screening\/","title":{"rendered":"Carrier screening"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"7389\" class=\"elementor elementor-7389\">\n\t\t\t\t<div class=\"elementor-element elementor-element-02b5f8d e-flex e-con-boxed e-con e-parent\" data-id=\"02b5f8d\" 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-b2b698f elementor-widget elementor-widget-spacer\" data-id=\"b2b698f\" 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<div class=\"elementor-element elementor-element-348c812 elementor-widget elementor-widget-text-editor\" data-id=\"348c812\" 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<p class=\" translation-block\">Preconception screening revealing hidden (healthy) carriers of mutations for monogenic recessive diseases (autosomal recessive or X-linked inheritance). The screening is designed as a partner-based test \u2013 the evaluation of reproductive risks for the couple is included as a separate report when both partners are tested.<\/p><h3><strong>Test information<\/strong><\/h3><ul><li>Developed by Genetika Plze\u0148, fully validated by the laboratory, and used for patient testing since 2021.<\/li><li class=\" translation-block\">This is an Expanded Carrier Screening targeting the most common serious recessive diseases across all global ethnicities, such as cystic fibrosis, spinal muscular atrophy, non-syndromic deafness (with GJB2 gene mutation), \u03b1 and \u03b2 thalassemia, sickle cell anemia, phenylketonuria, type 1 albinism, and others (for a complete list of diseases and genes, see <a href=\"https:\/\/www.genetika-plzen.cz\/wp-content\/uploads\/2024\/10\/SE.GP-20-v001-Carrier-screening-vysetrovana-onemocneni.pdf\" target=\"_self\"><strong>Carrier Screening \u2013 List of Tested Diseases<\/strong><\/a>).<\/li><li class=\" translation-block\">A total of 103 genes associated with 128 autosomal recessive and 23 X-linked monogenic diseases are tested.<\/li><li class=\" translation-block\">The panel design respects the recommendations of international and Czech professional societies for preconception screening (ACMG, ACOG, SLGG \u010cLS JEP) and includes most genes for diseases detected in the Czech Republic within the framework of newborn screening.<\/li><li class=\" translation-block\">The examination is performed using the most modern laboratory methodology \u2013 next-generation sequencing (NGS), which is the first technology to allow the simultaneous analysis of many genes. The entire coding sequence of all genes is examined (not just the most common mutations), and extensive (exon) gains\/losses (Copy Number Variations) are also analyzed, significantly increasing mutation detection rates (up to 99%) and thus reducing residual carrier risk.<\/li><li class=\" translation-block\">The test also includes gene variants that may be related to reproductive disorders, including congenital thrombophilic conditions. The results of this analysis have diagnostic significance and also contribute to the individualization of potential infertility treatment using assisted reproduction methods (see <strong><a href=\"https:\/\/www.genetika-plzen.cz\/wp-content\/uploads\/2024\/10\/SE.GP-19-v001-Genove-varianty-souvisejici-s-poruchami-reprodukce.pdf\" target=\"_blank\" rel=\"noopener\">List of Tested Gene Variants<\/a><\/strong>).<\/li><\/ul><h3>Cost and ordering<\/h3><ul><li class=\" translation-block\">For Czech insurance holders, the examination is partially covered by health insurance with a co-payment of 3500 CZK per person. In addition to the evaluation of Carrier Screening and the reproductive risks of the couple, the evaluation of gene variants related to reproductive disorders is always performed. The examination must be indicated by a clinical geneticist and follow a genetic consultation.<\/li><li class=\" translation-block\">For international self-payers, the test is priced at 690 EUR per person for Carrier Screening (the test additionally includes examination of the FMR1 gene by another detection method). Evaluation of variants related to reproductive disorders is with an additional fee of 60 EUR per person.<\/li><li><strong>The test is performed from a peripheral blood sample collected in EDTA. A request form for molecular genetic testing and informed consent for genetic testing must be attached to the sample.<\/strong>.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3df5ba8 elementor-button-info elementor-widget elementor-widget-button\" data-id=\"3df5ba8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/04\/nextlab_2024_prekoncepcni_geneticke_vysetreni_carrier_screening_en_01_nahled.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Leaflet<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-480b510 elementor-button-info elementor-widget elementor-widget-button\" data-id=\"480b510\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/06\/F.GP-911-v003-EN-Requisition-for-molecular-genetics-test_interactive.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Requisition form<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-0537e97 elementor-button-info elementor-widget elementor-widget-button\" data-id=\"0537e97\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/06\/F.GP-901-v002-EN-Consent-with-genetic-laboratory__-examination_interactive.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Laboratory consent<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\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-817f35c e-flex e-con-boxed e-con e-parent\" data-id=\"817f35c\" 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-fe07982 elementor-widget elementor-widget-image\" data-id=\"fe07982\" 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=\"300\" height=\"200\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-300x200.jpeg\" class=\"attachment-medium size-medium wp-image-7391\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-300x200.jpeg 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-1024x681.jpeg 1024w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-768x511.jpeg 768w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-1536x1022.jpeg 1536w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584-18x12.jpeg 18w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_carrier-screening-e1773767027584.jpeg 1635w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/>\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-0e64499 e-flex e-con-boxed e-con e-parent\" data-id=\"0e64499\" 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-f882fbc elementor-widget elementor-widget-spacer\" data-id=\"f882fbc\" 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>Prekoncep\u010dn\u00ed vy\u0161et\u0159en\u00ed odhaluj\u00edc\u00ed skryt\u00e9 (zdrav\u00e9) nosi\u010de mutac\u00ed pro monogenn\u00ed recesivn\u00ed onemocn\u011bn\u00ed (autosom\u00e1ln\u011b recesivn\u011b d\u011bdi\u010dn\u00e9 nebo X-v\u00e1zan\u00e9). Vy\u0161et\u0159en\u00ed je koncipov\u00e1no jako partnersk\u00e9 \u2013 p\u0159i vy\u0161et\u0159en\u00ed obou partner\u016f je sou\u010d\u00e1st\u00ed v\u00fdsledku vyhodnocen\u00ed reproduk\u010dn\u00edch rizik dan\u00e9ho p\u00e1ru vydan\u00e9 jako samostatn\u00e1 zpr\u00e1va. Informace k\u00a0testu: Test byl vyroben dle vlastn\u00edho n\u00e1vrhu Genetika Plze\u0148, laborato\u0159\u00ed je pln\u011b validov\u00e1n a\u00a0pro\u00a0pacientsk\u00e1 vy\u0161et\u0159en\u00ed pou\u017e\u00edv\u00e1n [&hellip;]<\/p>","protected":false},"author":9,"featured_media":0,"parent":7072,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"service-area":[32],"class_list":["post-7389","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>Carrier screening | 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\/geneticka-ambulance\/carrier-screening\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Carrier screening | Genetika Plze\u0148\" \/>\n<meta property=\"og:description\" content=\"Prekoncep\u010dn\u00ed vy\u0161et\u0159en\u00ed odhaluj\u00edc\u00ed skryt\u00e9 (zdrav\u00e9) nosi\u010de mutac\u00ed pro monogenn\u00ed recesivn\u00ed onemocn\u011bn\u00ed (autosom\u00e1ln\u011b recesivn\u011b d\u011bdi\u010dn\u00e9 nebo X-v\u00e1zan\u00e9). Vy\u0161et\u0159en\u00ed je koncipov\u00e1no jako partnersk\u00e9 \u2013 p\u0159i vy\u0161et\u0159en\u00ed obou partner\u016f je sou\u010d\u00e1st\u00ed v\u00fdsledku vyhodnocen\u00ed reproduk\u010dn\u00edch rizik dan\u00e9ho p\u00e1ru vydan\u00e9 jako samostatn\u00e1 zpr\u00e1va. 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