{"id":2842,"date":"2020-10-28T15:15:37","date_gmt":"2020-10-28T14:15:37","guid":{"rendered":"https:\/\/dev.retina.ch\/?page_id=2842"},"modified":"2025-03-05T16:29:11","modified_gmt":"2025-03-05T15:29:11","slug":"diagnostic-genetique","status":"publish","type":"page","link":"https:\/\/retina.ch\/fr\/degenerescences-retinienne-retina-suisse\/diagnostic-genetique\/","title":{"rendered":"Diagnostic g\u00e9n\u00e9tique"},"content":{"rendered":"\n<p>Actuellement, l\u2019on conna\u00eet plus de 260 g\u00e8nes pouvant causer une forme ou une autre de maladie d\u00e9g\u00e9n\u00e9rative de la r\u00e9tine. Rien que pour la r\u00e9tinite pigmentaire, ces g\u00e8nes sont au nombre de 110. Diverses mutations dans un g\u00e8ne peuvent \u00eatre \u00e0 l\u2019origine de diff\u00e9rentes maladies. Le g\u00e8ne ABCA4, par exemple, joue un r\u00f4le dans la maladie de Stargardt, la dystrophie des c\u00f4nes et des b\u00e2tonnets et la r\u00e9tinite pigmentaire. Seule l\u2019analyse g\u00e9n\u00e9tique permet de corroborer le diagnostic ophtalmologique. Cette analyse est aussi pertinente pour pr\u00e9voir l\u2019\u00e9volution de la maladie ainsi que le mode de transmission h\u00e9r\u00e9ditaire.<\/p>\n\n\n\n<p>En vertu de l\u2019art. 25 de la LAMal, les caisses maladie sont tenues de prendre en charge le co\u00fbt d\u2019une analyse g\u00e9n\u00e9tique dans les cas de d\u00e9g\u00e9n\u00e9rescences de la r\u00e9tine, dans le but d\u2019\u00e9tablir un diagnostic ou de mettre en \u0153uvre une th\u00e9rapie. Depuis 2017, l\u2019analyse au moyen de la technologie la plus r\u00e9cente, dite s\u00e9quen\u00e7age de nouvelle g\u00e9n\u00e9ration (ou \u00ab&nbsp;Next Generation Sequencing&nbsp;\u00bb) est aussi rembours\u00e9e. Malheureusement, il est fr\u00e9quent que les caisses maladies refusent la garantie de prise en charge. En r\u00e8gle g\u00e9n\u00e9rale, le refus est communiqu\u00e9 par courrier. Le cas \u00e9ch\u00e9ant, nous conseillons de demander une d\u00e9cision sujette \u00e0 opposition. Cela permet d\u2019exiger la garantie de prise en charge par la voie juridique.<\/p>\n\n\n\n<p><a rel=\"noreferrer noopener\" href=\"https:\/\/retina.ch\/wp-content\/uploads\/2020\/11\/merkblatt-die-genanalyse-und-das-krankenversicherungsgesetz-f.pdf\" target=\"_blank\">Lire l&rsquo;extrait complet<\/a> \u00ab\u00a0L&rsquo;analyse g\u00e9n\u00e9tique et la loi sur l&rsquo;assurance maladie\u00a0\u00bb du Retina Journal 129\/2016.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Pour plus d&rsquo;informations:<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/retina.ch\/agenda\/webinaire-une-banque-de-donnees-pour-patients\/\" target=\"_blank\">Une banque de donn\u00e9es pour patients ?<\/a>&nbsp;(Webinaire du <code>26 november 2020 <\/code>sur le registre des patients)<\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/retina.ch\/fr\/recherche\/registre-des-patients\/\" target=\"_blank\">Informations sur le registre des patients<\/a><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Actuellement, l\u2019on conna\u00eet plus de 260 g\u00e8nes pouvant causer une forme ou une autre de maladie d\u00e9g\u00e9n\u00e9rative de la r\u00e9tine. Rien que pour la r\u00e9tinite pigmentaire, ces g\u00e8nes sont au nombre de 110. Diverses mutations dans un g\u00e8ne peuvent \u00eatre \u00e0 l\u2019origine de diff\u00e9rentes maladies. Le g\u00e8ne ABCA4, par exemple, joue un r\u00f4le dans la &#8230;<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":2818,"menu_order":30,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-2842","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diagnostic g\u00e9n\u00e9tique &#8226; Retina Suisse<\/title>\n<meta name=\"description\" content=\"On conna\u00eet plus de 260 g\u00e8nes susceptibles de d\u00e9clencher des maladies de la r\u00e9tine. 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