{"id":22339,"date":"2024-01-30T23:31:28","date_gmt":"2024-01-30T22:31:28","guid":{"rendered":"https:\/\/www.fennerlabor.de\/erkrankungen\/gendosisanalyse-pmp22-gen\/"},"modified":"2024-01-30T23:31:28","modified_gmt":"2024-01-30T22:31:28","slug":"gendosisanalyse-pmp22-gen","status":"publish","type":"lab_panel","link":"https:\/\/www.fennerlabor.de\/erkrankungen\/gendosisanalyse-pmp22-gen\/","title":{"rendered":"Gendosisanalyse PMP22-Gen"},"content":{"rendered":"<p class=\"csD270A203\"><span class=\"csA33DE675\">In ca. 80 % ist eine 1,5 Mb gro&szlig;e Deletion der PMP22-Genregion (OMIM*601097, 17p11.2, NM_000304.2) urs&auml;chlich f&uuml;r autsomal-dominant erbliche heredit&auml;re Neuropathie mit Neigung zu Druckparesen (HNPP, MIM#162500). Krankheitsrelevante Duplikationen\/Ver&auml;nderungen dieses Gens sind auch beschrieben, die sowohl mit HNPP, Charcot-Marie-Tooth Erkrankung (CMT1A\/E, OMIM118220\/OMIM#118300) als auch mit Dejerine-Sottas Syndrom (DSS, OMIM#145900) assoziiert sein k&ouml;nnen (u.a. Chance, Cell, 1993; Roa et al, Nature Genet, 1993).<\/span><\/p>\n","protected":false},"template":"","meta":{"_acf_changed":false},"acf":{"disease_id":[22340,22065],"short_term":"XPMP22 MLPA","method":"Gendosisanalyse mittels MLPA","material":"2.7 ml  EDTA, bitte separates R\u00f6hrchen","accreditation":"Akkreditiertes Verfahren"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Gendosisanalyse PMP22-Gen - Labor Dr. Fenner &amp; Kollegen MVZ<\/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:\/\/www.fennerlabor.de\/erkrankungen\/gendosisanalyse-pmp22-gen\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gendosisanalyse PMP22-Gen - Labor Dr. Fenner &amp; Kollegen MVZ\" \/>\n<meta property=\"og:description\" content=\"In ca. 80 % ist eine 1,5 Mb gro&szlig;e Deletion der PMP22-Genregion (OMIM*601097, 17p11.2, NM_000304.2) urs&auml;chlich f&uuml;r autsomal-dominant erbliche heredit&auml;re Neuropathie mit Neigung zu Druckparesen (HNPP, MIM#162500). Krankheitsrelevante Duplikationen\/Ver&auml;nderungen dieses Gens sind auch beschrieben, die sowohl mit HNPP, Charcot-Marie-Tooth Erkrankung (CMT1A\/E, OMIM118220\/OMIM#118300) als auch mit Dejerine-Sottas Syndrom (DSS, OMIM#145900) assoziiert sein k&ouml;nnen (u.a. 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