{"id":47452,"date":"2025-10-20T15:52:25","date_gmt":"2025-10-20T12:52:25","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/neurofibromatoza-tip-1-gena-nf1-analiza-deletii-si-duplicatii\/"},"modified":"2026-10-21T19:43:04","modified_gmt":"2026-10-21T16:43:04","slug":"neurofibromatoza-tip-1-gena-nf1-analiza-deletii-si-duplicatii","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/neurofibromatoza-tip-1-gena-nf1-analiza-deletii-si-duplicatii\/","title":{"rendered":"Neurofibromatoza tip 1 \u2013 gena NF1 &#8211; analiza deletii si duplicatii"},"content":{"rendered":"<p>Neurofibromatoza tip 1 poate ap\u0103rea \u0219i prin pierderea complet\u0103 sau duplicarea unor regiuni \u00eentinse din gena <strong>NF1<\/strong>. Aceste anomalii determin\u0103 un fenotip adesea mai sever, cu num\u0103r mare de neurofibroame, dismorfisme \u0219i risc oncologic crescut.<\/p>\n<p>Testul utilizeaz\u0103 metode de tip <strong>MLPA<\/strong> (Multiplex Ligation-dependent Probe Amplification) sau <strong>NGS<\/strong> cu analiz\u0103 <strong>CNV<\/strong> (Copy Number Variation) pentru a identifica aceste varia\u021bii ale num\u0103rului de copii.<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate:<\/strong><\/p>\n<ul>\n<li>Manifest\u0103ri cutanate multiple (pete caf\u00e9-au-lait, lentigine);<\/li>\n<li>Neurofibroame difuze, uneori de dimensiuni mari (plexiforme);<\/li>\n<li>Tulbur\u0103ri de cre\u0219tere \u0219i deform\u0103ri osoase;<\/li>\n<li>Disfunc\u021bii cognitive sau de \u00eenv\u0103\u021bare;<\/li>\n<li>Risc crescut de gliom optic \u0219i tumori maligne ale tecilor nervoase.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<ul>\n<li>Pacien\u021bilor cu simptomatologie compatibil\u0103 cu NF1 la care testul NGS nu a identificat muta\u021bii punctiforme;<\/li>\n<li>Persoanelor cu forme familiale severe de NF1.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare:<\/strong><\/p>\n<p>Analiza dele\u021biilor \u0219i duplica\u021biilor prin <strong>MLPA \/ CNV-NGS<\/strong>.<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<ul>\n<li>Identificarea cauzei genetice la pacien\u021bii cu rezultat NGS negativ.<\/li>\n<li>Confirmarea diagnosticului \u0219i consilierea genetic\u0103 a familiei.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul detecteaz\u0103 <strong>rearanjamentele mari<\/strong> (dele\u021bii sau duplica\u021bii) ale genei NF1, care pot sc\u0103pa analizei prin secven\u021bierea standard. Aceste modific\u0103ri structurale sunt responsabile de 5\u201310% dintre cazurile de NF1.<\/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":["post-47452","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Test genetic NF1 - analiza deletii si duplicatii pentru evaluarea neurofibromatozei tip 1 si a variantelor genetice complexe. 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