{"id":27275,"date":"2025-06-24T15:52:19","date_gmt":"2025-06-24T12:52:19","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/hemofilia-a-gena-f8-detectie-inversie-intron-22-si-intron-1\/"},"modified":"2026-06-30T17:21:23","modified_gmt":"2026-06-30T14:21:23","slug":"hemofilia-a-gena-f8-detectie-inversie-intron-22-si-intron-1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/hemofilia-a-gena-f8-detectie-inversie-intron-22-si-intron-1\/","title":{"rendered":"Hemofilia A- gena F8 &#8211; detectie inversie intron 22 si intron 1"},"content":{"rendered":"<p>Testul analizeaz\u0103 gena F8, implicat\u0103 \u00een sinteza factorului VIII al coagul\u0103rii, o protein\u0103 esen\u021bial\u0103 \u00een men\u021binerea hemostazei normale.<\/p>\n<p>Inversiunile intron 22 \u0219i intron 1 sunt rearanjamente genomice specifice genei F8, ap\u0103rute prin recombinare \u00eentre secven\u021be omoloage, care duc la \u00eentreruperea expresiei normale a factorului VIII. Aceste modific\u0103ri sunt responsabile pentru aproximativ 45\u201350% dintre cazurile severe de hemofilie A (\u00een special inversiunea intron 22).<\/p>\n<p>Testarea acestor rearanjamente este esen\u021bial\u0103 \u00een diagnosticul molecular rapid al formelor severe de boal\u0103 \u0219i \u00een evaluarea riscului genetic familial.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Hemofilie A sever\u0103 congenital\u0103;<\/li>\n<li>S\u00e2nger\u0103ri spontane frecvente (hemartroze, hematoame musculare);<\/li>\n<li>S\u00e2nger\u0103ri prelungite dup\u0103 traumatisme minore;<\/li>\n<li>Hemoragii post-operatorii severe;<\/li>\n<li>Complica\u021bii articulare cronice (artropatie hemofilic\u0103);<\/li>\n<li>Episoade de status hemoragic \u00een formele nediagnosticate.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor hematologi, geneticienilor, pediatrilor \u0219i speciali\u0219tilor implica\u021bi \u00een evaluarea pacien\u021bilor cu suspiciune de hemofilie A sever\u0103 sau cu istoric familial pozitiv.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin tehnici moleculare specifice de detec\u021bie a inversiilor genomice, aplicate ADN-ului extras din s\u00e2nge periferic.<\/p>\n<h3>Sunt investigate dou\u0103 regiuni critice ale genei F8:<\/h3>\n<ul>\n<li>Inversiunea intron 22 (cea mai frecvent\u0103 cauz\u0103 de hemofilie A sever\u0103);<\/li>\n<li>Inversiunea intron 1 (rar\u0103, dar relevant\u0103 clinic).<\/li>\n<\/ul>\n<p>Metoda permite identificarea rapid\u0103 a acestor rearanjamente structurale majore, care nu pot fi detectate prin secven\u021biere Sanger sau NGS standard.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul rapid al hemofiliei A severe;<\/li>\n<li>Identific\u0103 cea mai frecvent\u0103 cauz\u0103 genetic\u0103 a bolii (inversiunea intron 22);<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru confirmarea etiologiei genetice;<\/li>\n<li>Sprijin\u0103 consilierea genetic\u0103 familial\u0103 \u0219i testarea purt\u0103torilor;<\/li>\n<li>Contribuie la decizii terapeutice \u0219i planificarea managementului pe termen lung.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Detecteaz\u0103 exclusiv inversiunile intron 22 \u0219i intron 1;<\/li>\n<li>Nu identific\u0103 muta\u021bii punctiforme sau dele\u021bii\/duplica\u021bii (necesit\u0103 Sanger sau MLPA);<\/li>\n<li>Nu exclude complet prezen\u021ba altor variante patogene \u00een gena F8;<\/li>\n<li>Rezultatul trebuie interpretat \u00een corela\u021bie cu date clinice \u0219i nivelul factorului VIII.<\/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.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport conform protocolului laboratorului.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test inversiune intron 22 F8; Test inversiune intron 1 F8; Analiz\u0103 genetic\u0103 hemofilie A sever\u0103; Screening rearanjamente F8; Diagnostic molecular hemofilie A.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Secven\u021bierea genei F8 (Sanger);<\/li>\n<li>MLPA gena F8 (dele\u021bii\/duplica\u021bii);<\/li>\n<li>Activitatea factorului VIII plasmatic;<\/li>\n<li>Teste de coagulare (APTT, PT);<\/li>\n<li>Consiliere genetic\u0103 familial\u0103;<\/li>\n<li>Testare purt\u0103tori (carrier screening) \u00een familie.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 \u021bintit\u0103, utilizat\u0103 pentru detectarea celor mai frecvente rearanjamente structurale ale genei F8 \u2013 inversiunea intron 22 \u0219i inversiunea intron 1 \u2013 responsabile pentru majoritatea cazurilor severe de hemofilie A.<\/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-27275","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 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 molecular\u0103 \u021bintit\u0103, utilizat\u0103 pentru detectarea celor mai frecvente rearanjamente structurale ale genei F8 \u2013 inversiunea intron 22 \u0219i inversiunea intron 1 \u2013 responsabile pentru majoritatea cazurilor severe de hemofilie A.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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