{"id":27337,"date":"2025-06-24T14:55:39","date_gmt":"2025-06-24T12:55:39","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/wes-prenatal-bioexome\/"},"modified":"2026-02-27T18:01:18","modified_gmt":"2026-02-27T16:01:18","slug":"wes-prenatal-bioexome","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/wes-prenatal-bioexome\/","title":{"rendered":"Wes prenatal Bioexome"},"content":{"rendered":"<p><strong>WES Prenatal Bioexome<\/strong> analizeaz\u0103 toate regiunile codante ale genomului fetal, oferind un profil complet al muta\u021biilor genetice. Testul permite identificarea variantelor rare sau noi care ar putea afecta dezvoltarea fetal\u0103.<\/p>\n<\/p>\n<p>Not\u0103 important\u0103: proba poate fi contaminat\u0103 cu ADN matern.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>boli genetice monogenice (autozomale dominante\/recesive, legate de X)<\/li>\n<li>sindroame congenitale complexe<\/li>\n<li>malforma\u021bii congenitale sau tulbur\u0103ri de dezvoltare detectate ecografic<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>gravide care doresc evaluarea genetic\u0103 complet\u0103 a f\u0103tului<\/li>\n<li>cupluri cu antecedente familiale de boli genetice<\/li>\n<li>sarcini cu semne ecografice sugestive de afec\u021biuni genetice<\/li>\n<li>sarcini cu modific\u0103ri la testele de screening prenatal non-invaziv extins<\/li>\n<li>decizii de consiliere prenatal\u0103 \u0219i planificare medical\u0103<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>extrac\u021bia ADN fetal din lichid amniotic sau vilozit\u0103\u021bi coriale<\/li>\n<li>secven\u021biere NGS a \u00eentregului exom<\/li>\n<li>analiz\u0103 bioinformatic\u0103 pentru detectarea variantelor patogene \u0219i posibil patogene<\/li>\n<li>validarea variantelor prin metode confirmatorii (Sanger sau MLPA, dup\u0103 caz)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>detectarea precoce a afec\u021biunilor genetice severe<\/li>\n<li>consiliere genetic\u0103 \u0219i decizii medicale informate<\/li>\n<li>ajutor \u00een planificarea sarcinii \u0219i preg\u0103tirea postnatal\u0103<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>posibil\u0103 contaminare cu ADN matern, care poate afecta interpretarea rezultatelor<\/li>\n<li>testul nu detecteaz\u0103 variante \u00een regiuni necodante sau anumite muta\u021bii complexe (repeti\u021bii mari, rearanjamente cromozomiale majore)<\/li>\n<li>interpretarea rezultatelor trebuie f\u0103cut\u0103 de un medic genetician \u00eempreun\u0103 cu istoricul familial \u0219i ecografic<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>lichid amniotic: minim 15 ml<\/li>\n<li>vilozit\u0103\u021bi coriale: minim 10 mg<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<\/p>\n<ul>\n<li>probele trebuie transportate rapid la laborator, conform instruc\u021biunilor pentru prob\u0103 fetal\u0103<\/li>\n<li>evitarea contamin\u0103rii cu s\u00e2nge matern sau alte surse externe de ADN<\/li>\n<li>p\u0103strarea la temperatur\u0103 recomandat\u0103 p\u00e2n\u0103 la livrarea la laborator<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>screening cromozomial prenatal (microarray, QF-PCR)<\/li>\n<li>testare genetic\u0103 specific\u0103 pentru gene legate de ecografii suspecte<\/li>\n<li>confirmarea postnatal\u0103, dac\u0103 este cazul<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p><strong>Testul WES Prenatal Bioexome<\/strong> este o analiz\u0103 complet\u0103 a exomului fetal, efectuat\u0103 pe lichid amniotic sau vilozit\u0103\u021bi coriale, care permite detectarea muta\u021biilor genetice implicate \u00een boli monogenice sau sindroame genetice complexe.<\/p>\n<\/p>\n<p><strong>Gene analizate:<\/strong> \u00eentreg exomul uman (~20.000 de gene codante), cu accent pe variante patogene cunoscute asociate afec\u021biunilor congenitale.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3173,2876],"product_tag":[],"class_list":["post-27337","product","type-product","status-publish","product_cat-analize","product_cat-genetica-in-sarcina","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 - 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