{"id":26842,"date":"2025-06-24T15:26:41","date_gmt":"2025-06-24T12:26:41","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-boala-stargardt-si-distrofii-maculare\/"},"modified":"2026-07-02T11:27:39","modified_gmt":"2026-07-02T08:27:39","slug":"panel-boala-stargardt-si-distrofii-maculare","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boala-stargardt-si-distrofii-maculare\/","title":{"rendered":"Panel Boala Stargardt si distrofii maculare"},"content":{"rendered":"<p>Boala Stargardt \u0219i distrofiile maculare ereditare reprezint\u0103 un grup de afec\u021biuni genetice progresive caracterizate prin afectarea maculei, regiunea central\u0103 a retinei responsabil\u0103 de vederea fin\u0103, citire \u0219i recunoa\u0219terea detaliilor.<\/p>\n<p>Cea mai frecvent\u0103 cauz\u0103 a bolii Stargardt este muta\u021bia genei <strong>ABCA4<\/strong>, implicat\u0103 \u00een transportul retinoizilor \u00een fotoreceptorii retinieni. Disfunc\u021bia acestei gene duce la acumularea de produse toxice (lipofuscin\u0103) \u00een epiteliul pigmentar retinian, determin\u00e2nd degenerare progresiv\u0103 \u0219i pierderea vederii centrale.<\/p>\n<p>Panelul NGS analizeaz\u0103 un set extins de gene asociate distrofiilor maculare, permi\u021b\u00e2nd identificarea muta\u021biilor punctiforme, inser\u021biilor\/dele\u021biilor mici \u0219i variantelor cu semnifica\u021bie clinic\u0103, contribuind la diagnosticul molecular precis \u0219i la consilierea genetic\u0103.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Boala Stargardt;<\/li>\n<li>Distrofii maculare ereditare;<\/li>\n<li>Degenerescen\u021b\u0103 macular\u0103 juvenil\u0103;<\/li>\n<li>Sc\u0103derea progresiv\u0103 a vederii centrale;<\/li>\n<li>Metamorfopsii (distorsiunea imaginilor);<\/li>\n<li>Dificult\u0103\u021bi de citire \u0219i vedere de aproape;<\/li>\n<li>Fotofobie;<\/li>\n<li>Scotom central;<\/li>\n<li>Pierderea progresiv\u0103 a acuit\u0103\u021bii vizuale.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor oftalmologi, geneticienilor medicali, pediatrilor \u0219i speciali\u0219tilor implica\u021bi \u00een evaluarea pacien\u021bilor cu sc\u0103dere progresiv\u0103 a vederii centrale sau suspiciune de distrofie retinian\u0103 ereditar\u0103.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin tehnologie <strong>NGS (Next Generation Sequencing)<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n<h3>Panelul include gene implicate \u00een:<\/h3>\n<ul>\n<li>boala Stargardt (\u00een special <strong>ABCA4<\/strong>);<\/li>\n<li>distrofii maculare ereditare;<\/li>\n<li>alte forme de degenerescen\u021b\u0103 retinian\u0103 central\u0103.<\/li>\n<\/ul>\n<p>Sunt detectate variante patogene, probabil patogene \u0219i variante de semnifica\u021bie incert\u0103 (VUS), incluz\u00e2nd muta\u021bii punctiforme \u0219i mici dele\u021bii\/duplica\u021bii.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul molecular al bolii Stargardt;<\/li>\n<li>Ajut\u0103 la diferen\u021bierea fa\u021b\u0103 de alte distrofii retiniene;<\/li>\n<li>Ofer\u0103 informa\u021bii prognostice privind evolu\u021bia vederii;<\/li>\n<li>Contribuie la consilierea genetic\u0103 familial\u0103;<\/li>\n<li>Sprijin\u0103 accesul la studii clinice \u0219i terapii emergente;<\/li>\n<li>Permite evaluarea riscului de transmitere ereditar\u0103.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Nu detecteaz\u0103 toate rearanjamentele structurale complexe sau variantele din regiuni neacoperite complet de NGS;<\/li>\n<li>Unele variante pot avea semnifica\u021bie incert\u0103 (VUS);<\/li>\n<li>Corelarea cu examinarea oftalmologic\u0103 este esen\u021bial\u0103;<\/li>\n<li>Nu \u00eenlocuie\u0219te investiga\u021biile clinice (OCT, autofluorescen\u021b\u0103, ERG).<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<p>S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n<h3>Recoltare:<\/h3>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA, conform standardelor pentru testare genetic\u0103 molecular\u0103.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport la 2\u20138\u00b0C.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<ul>\n<li>Panel genetic Stargardt;<\/li>\n<li>NGS distrofii maculare;<\/li>\n<li>Test genetic ABCA4;<\/li>\n<li>Analiz\u0103 distrofii retiniene ereditare;<\/li>\n<li>Panel degenerescen\u021b\u0103 macular\u0103 juvenil\u0103;<\/li>\n<li>Secven\u021biere gene retiniene.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Examinare oftalmologic\u0103 complet\u0103;<\/li>\n<li>OCT (tomografie \u00een coeren\u021b\u0103 optic\u0103);<\/li>\n<li>Autofluorescen\u021b\u0103 retinian\u0103;<\/li>\n<li>Electroretinogram\u0103 (ERG);<\/li>\n<li>Panel NGS distrofii retiniene extins;<\/li>\n<li>Consiliere genetic\u0103;<\/li>\n<li>Testare familial\u0103 pentru muta\u021bii identificate.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panel genetic realizat prin tehnologie <strong>Next Generation Sequencing (NGS)<\/strong>, utilizat pentru identificarea variantelor patogene asociate <strong>bolii Stargardt \u0219i altor distrofii maculare ereditare<\/strong>, afec\u021biuni degenerative ale retinei cu impact major asupra vederii centrale.<\/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-26842","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=\"Panel genetic realizat prin tehnologie Next 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