{"id":7884,"date":"2024-02-15T22:48:16","date_gmt":"2024-02-15T21:48:16","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7884"},"modified":"2024-02-23T01:38:26","modified_gmt":"2024-02-23T00:38:26","slug":"celogenomova-analyza-variant-cnv","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/de\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/","title":{"rendered":"Genomweite Analyse von CNV-Varianten"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"7884\" class=\"elementor elementor-7884\">\n\t\t\t\t<div class=\"elementor-element elementor-element-98df6f3 e-flex e-con-boxed e-con e-parent\" data-id=\"98df6f3\" 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-cab1ab4 elementor-widget elementor-widget-spacer\" data-id=\"cab1ab4\" 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-26cca32 e-flex e-con-boxed e-con e-parent\" data-id=\"26cca32\" 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-fdc5286 elementor-widget elementor-widget-text-editor\" data-id=\"fdc5286\" 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>Array CGH (Comparative Genomic Hybridization auf einem Chip) ist eine molekularzytogenetische Untersuchung des gesamten Genoms. Sie dient dazu, unbalancierte Aberrationen (Verluste und Gewinne von Sequenzen) zu erkennen, deren Position im Genom nicht im Voraus bekannt ist.<\/p>\n<p>Die Methode basiert auf der Kompetition, dem Wettbewerb, von fluoreszenz-markierter Referenz-DNA mit markierter Patienten-DNA um komplement\u00e4re Sequenzen, die auf dem Chip verteilt sind. Ein Chip ist ein Glas-Objekttr\u00e4ger, auf dem Oligonukleotid-, BAC- oder SNP-Sequenzen so platziert sind, dass sie das menschliche Genom abdecken. Nach der \u00fcblicherweise 24-st\u00fcndigen Hybridisierung erfolgt das Abwaschen der ungebundenen DNA und die Auswertung mit einem speziellen Scanner, der die Fluoreszenzintensit\u00e4ten von Signalen der Referenz- und der Patienten-DNA differenziert. Eine speziell entwickelte Software interpretiert jeden Spot auf dem Chip und analysiert so das Verh\u00e4ltnis beider Fluorochrome. Erfasste unbalancierte Aberrationen werden somit nach dem Prinzip der Gewinne und Verluste mit pr\u00e4ziser Lokalisierung im Genom bewertet. Die gewonnenen Daten werden weiter mit im Internet verf\u00fcgbaren Gendatenbanken abgeglichen.<\/p>\n<p>Grenzen der Methode: Punktmutationen, balancierte Chromosomenaberrationen, niederfrequente Mosaike, uniparentale Disomie und Triploidie\/Polyploidie k\u00f6nnen mit der Oligo-Array-CGH-Methode nicht erfasst werden.<\/p>\n<br \/>\n<p>Die Methode wird in der postnatalen, pr\u00e4natalen und Pr\u00e4implantationsdiagnostik eingesetzt. <\/p>\n<p>Die Untersuchung ist f\u00fcr Patienten mit Verdacht auf eine angeborene Entwicklungsst\u00f6rung mit genetischer Aberration indiziert, bei denen mit klassischen zytogenetischen und molekulargenetischen Methoden keine Ver\u00e4nderungen im Erbgut nachgewiesen werden konnten.<\/p>\n<p>In der pr\u00e4natalen Zytogenetik ist sie die Methode der ersten Wahl, sie folgt nach einem normalen Ergebnis der QF-PCR-Untersuchung.\n<a href=\"https:\/\/genetika-plzen.nullable.group\/de\/geneticka-ambulance\/lekarska-genetika-geneticke-vysetreni\/\">L\u00e9ka\u0159sk\u00e1 genetika &#8211; genetick\u00e9 vy\u0161et\u0159en\u00ed<\/a> <\/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-b8ece59 e-flex e-con-boxed e-con e-parent\" data-id=\"b8ece59\" 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-27e2716 elementor-widget elementor-widget-spacer\" data-id=\"27e2716\" 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>Array CGH (komparativn\u00ed genomov\u00e1 hybridizace na \u010dipu) je molekul\u00e1rn\u011b cytogenetick\u00e9 vy\u0161et\u0159en\u00ed cel\u00e9ho genomu. Slou\u017e\u00ed k odhalen\u00ed nebalancovan\u00fdch aberac\u00ed (ztr\u00e1t a zisk\u016f sekvenc\u00ed), jejich\u017e um\u00edst\u011bn\u00ed v genomu nen\u00ed p\u0159edem zn\u00e1m\u00e9. Metoda je zalo\u017eena na kompetici, sout\u011b\u017een\u00ed, fluorescen\u010dn\u011b zna\u010den\u00e9 referen\u010dn\u00ed DNA se zna\u010denou DNA pacienta o komplement\u00e1rn\u00ed sekvence rozprost\u0159en\u00e9 na \u010dipu. Jako \u010dip je ozna\u010dov\u00e1no skl\u00ed\u010dko, na [&hellip;]<\/p>","protected":false},"author":9,"featured_media":0,"parent":7189,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"service-area":[28],"class_list":["post-7884","page","type-page","status-publish","hentry","service-area-cytogeneticka-laborator"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Celogenomov\u00e1 anal\u00fdza variant CNV | 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\/de\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Celogenomov\u00e1 anal\u00fdza variant CNV | Genetika Plze\u0148\" \/>\n<meta property=\"og:description\" content=\"Array CGH (komparativn\u00ed genomov\u00e1 hybridizace na \u010dipu) je molekul\u00e1rn\u011b cytogenetick\u00e9 vy\u0161et\u0159en\u00ed cel\u00e9ho genomu. Slou\u017e\u00ed k odhalen\u00ed nebalancovan\u00fdch aberac\u00ed (ztr\u00e1t a zisk\u016f sekvenc\u00ed), jejich\u017e um\u00edst\u011bn\u00ed v genomu nen\u00ed p\u0159edem zn\u00e1m\u00e9. Metoda je zalo\u017eena na kompetici, sout\u011b\u017een\u00ed, fluorescen\u010dn\u011b zna\u010den\u00e9 referen\u010dn\u00ed DNA se zna\u010denou DNA pacienta o komplement\u00e1rn\u00ed sekvence rozprost\u0159en\u00e9 na \u010dipu. Jako \u010dip je ozna\u010dov\u00e1no skl\u00ed\u010dko, na [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genetika-plzen.nullable.group\/de\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/\" \/>\n<meta property=\"og:site_name\" content=\"Genetika Plze\u0148\" \/>\n<meta property=\"article:modified_time\" content=\"2024-02-23T00:38:26+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/\",\"name\":\"Celogenomov\u00e1 anal\u00fdza variant CNV | Genetika Plze\u0148\",\"isPartOf\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#website\"},\"datePublished\":\"2024-02-15T21:48:16+00:00\",\"dateModified\":\"2024-02-23T00:38:26+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/#breadcrumb\"},\"inLanguage\":\"de-DE-formal\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/genetika-plzen.nullable.group\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Cytogenetick\u00e1 laborato\u0159\",\"item\":\"https:\/\/genetika-plzen.nullable.group\/cytogeneticka-laborator\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Celogenomov\u00e1 anal\u00fdza variant CNV\"}]},{\"@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\":\"de-DE-formal\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/genetika-plzen.nullable.group\/#organization\",\"name\":\"Genetika Plze\u0148\",\"url\":\"https:\/\/genetika-plzen.nullable.group\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"de-DE-formal\",\"@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\/\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Celogenomov\u00e1 anal\u00fdza variant CNV | Genetika 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\/de\/cytogeneticka-laborator\/celogenomova-analyza-variant-cnv\/","og_locale":"de_DE","og_type":"article","og_title":"Celogenomov\u00e1 anal\u00fdza variant CNV | Genetika Plze\u0148","og_description":"Array CGH (komparativn\u00ed genomov\u00e1 hybridizace na \u010dipu) je molekul\u00e1rn\u011b cytogenetick\u00e9 vy\u0161et\u0159en\u00ed cel\u00e9ho genomu. Slou\u017e\u00ed k odhalen\u00ed nebalancovan\u00fdch aberac\u00ed (ztr\u00e1t a zisk\u016f sekvenc\u00ed), jejich\u017e um\u00edst\u011bn\u00ed v genomu nen\u00ed p\u0159edem zn\u00e1m\u00e9. Metoda je zalo\u017eena na kompetici, sout\u011b\u017een\u00ed, fluorescen\u010dn\u011b zna\u010den\u00e9 referen\u010dn\u00ed DNA se zna\u010denou DNA pacienta o komplement\u00e1rn\u00ed sekvence rozprost\u0159en\u00e9 na \u010dipu. 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