{"id":47453,"date":"2025-10-20T15:52:49","date_gmt":"2025-10-20T12:52:49","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/neurofibromatoza-tip-2-gena-nf2-secventiere-ngs\/"},"modified":"2026-03-24T11:52:55","modified_gmt":"2026-03-24T09:52:55","slug":"neurofibromatoza-tip-2-gena-nf2-secventiere-ngs","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/neurofibromatoza-tip-2-gena-nf2-secventiere-ngs\/","title":{"rendered":"Neurofibromatoza tip 2 \u2013  gena NF2 &#8211; secventiere NGS"},"content":{"rendered":"<p><strong>Neurofibromatoza tip 2<\/strong> este o boal\u0103 genetic\u0103 autozomal dominant\u0103 rar\u0103 (1:25.000\u20131:40.000), cauzat\u0103 de muta\u021bii \u00een gena <strong>NF2<\/strong>, localizat\u0103 pe cromozomul 22q12.2.<\/p>\n<p>Gena codific\u0103 proteina <strong>merlin\u0103<\/strong>, implicat\u0103 \u00een controlul cre\u0219terii celulare. Defectul duce la formarea de <strong>schwanoame<\/strong>, <strong>meningioame<\/strong> \u0219i <strong>ependimoame<\/strong>.<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate:<\/strong><\/p>\n<ul>\n<li>pierdere progresiv\u0103 a auzului \u0219i tinitus (din cauza schwanoamelor vestibulare bilaterale);<\/li>\n<li>dezechilibru \u0219i vertij;<\/li>\n<li>tulbur\u0103ri de vedere (neurom al nervului optic, cataract\u0103 juvenil\u0103);<\/li>\n<li>meningioame multiple;<\/li>\n<li>ependimoame ale m\u0103duvei spin\u0103rii;<\/li>\n<li>neuropatii periferice \u0219i sl\u0103biciune muscular\u0103.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<ul>\n<li>persoanelor cu tumori vestibulare bilaterale sau istorii familiale de NF2;<\/li>\n<li>pacien\u021bilor tineri cu meningioame multiple sau schwanoame izolate;<\/li>\n<li>copiilor din familii cu NF2 confirmat\u0103 genetic.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<p>Secven\u021biere complet\u0103 a genei <em>NF2<\/em> prin <strong>NGS<\/strong> cu acoperire complet\u0103 a exoanelor \u0219i analiz\u0103 bioinformatic\u0103 pentru muta\u021bii punctiforme \u0219i inser\u021bii\/dele\u021bii mici.<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<ul>\n<li>confirm\u0103 diagnosticul molecular de NF2;<\/li>\n<li>permite consilierea genetic\u0103 \u0219i monitorizarea precoce a complica\u021biilor (tumori ale SNC, pierderea auzului);<\/li>\n<li>ajut\u0103 la stabilirea strategiei terapeutice \u0219i chirurgicale.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul pentru <strong>neurofibromatoza tip 2 (NF2)<\/strong> prin <strong>secven\u021biere NGS<\/strong> detecteaz\u0103 muta\u021biile patogene \u00een gena NF2, asociate cu dezvoltarea tumorilor bilaterale ale nervilor vestibulari \u0219i a altor tumori ale sistemului nervos central.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":{"0":"post-47453","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","9":"first","10":"instock","11":"sale","12":"virtual","13":"purchasable","14":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/47453","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=47453"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=47453"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=47453"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=47453"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}