{"id":26607,"date":"2025-06-24T15:11:53","date_gmt":"2025-06-24T12:11:53","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/hemofilia-a-gena-f8-detectie-deletii-duplicatii-prin-mlpa\/"},"modified":"2026-06-30T17:20:11","modified_gmt":"2026-06-30T14:20:11","slug":"hemofilia-a-gena-f8-detectie-deletii-duplicatii-prin-mlpa","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/hemofilia-a-gena-f8-detectie-deletii-duplicatii-prin-mlpa\/","title":{"rendered":"Hemofilia A \u2013 gena F8- detectie deletii\/duplicatii prin MLPA"},"content":{"rendered":"<p>Testul analizeaz\u0103 gena F8, care codific\u0103 factorul VIII al coagul\u0103rii, o protein\u0103 esen\u021bial\u0103 \u00een cascada coagul\u0103rii s\u00e2ngelui.<\/p>\n<p>Defectele structurale de tip dele\u021bii sau duplica\u021bii la nivelul genei F8 sunt responsabile pentru un procent semnificativ din cazurile de hemofilie A, \u00een special formele moderate \u0219i severe ale bolii. Aceste alter\u0103ri genetice determin\u0103 deficit par\u021bial sau total de factor VIII, care duc la episoade hemoragice spontane sau post-traumatice.<\/p>\n<p>Metoda MLPA permite evaluarea cantitativ\u0103 a exonilor genei F8, fiind esen\u021bial\u0103 pentru detectarea rearanjamentelor genomice care nu pot fi identificate prin secven\u021biere clasic\u0103.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Hemofilie A congenital\u0103 (deficit de factor VIII);<\/li>\n<li>S\u00e2nger\u0103ri spontane (hemartroze, hematoame musculare);<\/li>\n<li>S\u00e2nger\u0103ri prelungite dup\u0103 traumatisme sau interven\u021bii chirurgicale;<\/li>\n<li>Echimoze frecvente;<\/li>\n<li>Hemoragii severe \u00een formele moderate \u0219i severe;<\/li>\n<li>Complica\u021bii articulare cronice (artropatie hemofilic\u0103).<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor hematologi, pediatri, geneticieni \u0219i al\u021bi speciali\u0219ti implica\u021bi \u00een diagnosticul \u0219i monitorizarea pacien\u021bilor cu suspiciune de tulbur\u0103ri de coagulare sau cu istoric familial de hemofilie A.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin MLPA (Multiplex Ligation-dependent Probe Amplification) pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n<p>Tehnica permite detectarea dele\u021biilor \u0219i duplica\u021biilor la nivelul exonilor genei F8, inclusiv rearanjamente mari care nu sunt eviden\u021biate prin secven\u021biere clasic\u0103.<\/p>\n<p>Rezultatele sunt interpretate \u00een context clinic \u0219i pot necesita corelare cu activitatea factorului VIII \u0219i istoricul hematologic al pacientului.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Confirm\u0103 diagnosticul molecular al hemofiliei A \u00een formele cauzate de rearanjamente F8;<\/li>\n<li>Permite identificarea cauzei genetice \u00een cazurile cu deficit sever de factor VIII;<\/li>\n<li>Contribuie la stratificarea severit\u0103\u021bii bolii;<\/li>\n<li>Sprijin\u0103 consilierea genetic\u0103 familial\u0103 \u0219i evaluarea riscului de transmitere;<\/li>\n<li>Permite testarea purt\u0103toarelor (femei heterozigote) \u00een familiile afectate.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Testul detecteaz\u0103 exclusiv dele\u021bii \u0219i duplica\u021bii la nivelul genei F8;<\/li>\n<li>Nu identific\u0103 muta\u021bii punctiforme sau variante mici (care necesit\u0103 secven\u021biere Sanger sau NGS);<\/li>\n<li>Nu eviden\u021biaz\u0103 muta\u021bii din alte gene implicate rar \u00een tulbur\u0103ri de coagulare;<\/li>\n<li>Interpretarea necesit\u0103 corelare cu date clinice \u0219i teste de coagulare (APTT, factor 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>Conform specifica\u021biilor laboratorului<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test genetic F8; Analiz\u0103 MLPA pentru hemofilie A; Detec\u021bie dele\u021bii\/duplica\u021bii ale genei factorului VIII; Test molecular pentru hemofilia A.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Activitatea factorului VIII plasmatic;<\/li>\n<li>Teste de coagulare (APTT, PT);<\/li>\n<li>Analiz\u0103 genetic\u0103 F8 prin secven\u021biere (pentru muta\u021bii punctiforme);<\/li>\n<li>Testare genetic\u0103 familial\u0103 (carrier screening);<\/li>\n<li>Consiliere genetic\u0103 specializat\u0103;<\/li>\n<li>Analize pentru alte coagulopatii (ex. factor IX \u2013 hemofilie B, la diferen\u021biere).<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 cantitativ\u0103, realizat\u0103 prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification), pentru identificarea dele\u021biilor \u0219i duplica\u021biilor la nivelul genei F8, principala cauz\u0103 genetic\u0103 a hemofiliei A, o tulburare de coagulare cu transmitere legat\u0103 de cromozomul X.<\/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-26607","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 cantitativ\u0103, realizat\u0103 prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification), pentru identificarea dele\u021biilor \u0219i duplica\u021biilor la nivelul genei F8, principala cauz\u0103 genetic\u0103 a hemofiliei A, o tulburare de coagulare cu transmitere legat\u0103 de cromozomul X.\" 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