{"id":27743,"date":"2025-06-24T15:51:56","date_gmt":"2025-06-24T13:51:56","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/profil-14-mutatii-genetice-trombofilie\/"},"modified":"2026-02-27T18:04:10","modified_gmt":"2026-02-27T16:04:10","slug":"profil-14-mutatii-genetice-trombofilie","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/profil-14-mutatii-genetice-trombofilie\/","title":{"rendered":"Profil 14 mutatii genetice trombofilie"},"content":{"rendered":"<ul>\n<li>Tehnologie <strong>Real-Time PCR (RT-PCR)<\/strong> pe ADN extras din s\u00e2nge periferic (EDTA).<\/li>\n<li>Detec\u021bia variantelor \u021bintite cu sonde\/alel\u0103 specifice.<\/li>\n<li>Raportare ca genotip (homozigot\/heterozigot\/tip s\u0103lbatic) pentru fiecare marker, cu interpretare clinic\u0103 integrat\u0103.<\/li>\n<\/ul>\n<p><strong>Afectiuni \u0219i simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Tromboembolism venos (TEV): tromboz\u0103 venoas\u0103 profund\u0103 (TVP) \u0219i\/sau embolie pulmonar\u0103 (EP).<\/li>\n<li>Evenimente trombotice arteriale la persoane cu al\u021bi factori de risc.<\/li>\n<li>Profil lipidic particular (APOE) cu impact asupra dislipidemiei.<\/li>\n<\/ul>\n<p>\u00cen anumite cazuri este util\u0103 \u0219i \u00een evaluarea complica\u021biilor obstetricale recurente, doar corelat\u0103 clinic.<\/p>\n<\/p>\n<p><strong>Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n<ul>\n<li>Persoanelor cu istoric personal sau familial de <strong>TEV<\/strong> ori evenimente trombotice arteriale.<\/li>\n<li>Persoanelor cu factori de risc multipli (dislipidemie, obezitate, fumat, diabet), \u00eenaintea ini\u021bierii terapiilor hormonale sau interven\u021biilor chirurgicale majore.<\/li>\n<li>Femeilor cu pierderi recurente de sarcin\u0103 sau complica\u021bii obstetricale.<\/li>\n<li>Rudelor de gradul I ale persoanelor cu variante trombofilice confirmate.<\/li>\n<\/ul>\n<h2><\/h2>\n<p><strong>Metodologie de testare <\/strong><\/p>\n<\/p>\n<ul>\n<li>Recoltare s\u00e2nge venos (EDTA) \u2192 extrac\u021bie ADN \u2192 amplificare \u021bintit\u0103 \u2192 detec\u021bie RT\u2011PCR.<\/li>\n<li>Control de calitate cu martori pozitivi\/negativi \u0219i control intern.<\/li>\n<li>Raport final cu genotip \u0219i recomand\u0103ri de corelare clinic\u0103.<\/li>\n<\/ul>\n<p><strong>Beneficii si importanta clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Stratificarea riscului trombotic \u0219i cardiovascular.<\/li>\n<li>Ghidarea profilaxiei (inclusiv perioperatorie) \u0219i a deciziilor privind contracep\u021bia, sarcina \u0219i terapiile hormonale.<\/li>\n<li>Consiliere genetic\u0103 familial\u0103 c\u00e2nd se identific\u0103 variante cu impact major (ex. F5\/F2, APOE).<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Panelul detecteaz\u0103 exclusiv variantele enumerate; alte muta\u021bii rare pot r\u0103m\u00e2ne nedepistate.<\/li>\n<li>Marcatorii MTHFR, PAI\u20111, F13A1, ACE, AGT, AGTR1, FGB, ITGB3 sunt de susceptibilitate; relevan\u021ba depinde de context \u0219i nu confirm\u0103 prin ei \u00een\u0219i\u0219i, o trombofilie ereditar\u0103.<\/li>\n<li>MTHFR: ghidurile interna\u021bionale nu recomand\u0103 genotiparea MTHFR pentru evaluarea riscului de TEV; nu este indicat\u0103 pentru a decide anticoagularea.<\/li>\n<li>Variantele F5 Leiden \u0219i F2 G20210A sunt factori genetici de risc recunoscu\u021bi pentru TEV; interpretarea se face \u00een corela\u021bie cu v\u00e2rsta, comorbidit\u0103\u021bile \u0219i factorii de mediu.<\/li>\n<li>Rezultatul genetic nu substituie evaluarea clinic\u0103; se coreleaz\u0103 cu analizele de coagulare \u0219i cu profilul lipidic.<\/li>\n<li>Indica\u021bia de testare se stabile\u0219te, ideal, \u00een cadrul consilierii genetice sau al evalu\u0103rii hematologice.<\/li>\n<\/ul>\n<p><strong>Analize conexe<\/strong><\/p>\n<\/p>\n<ul>\n<li><span style=\"color: black\">Coagulare: Proteina C, Proteina S, Antitrombina III, Lupus anticoagulant, anticorpi anticardiolipin\u0103\/anti\u2011\u03b22GPI<\/span><\/li>\n<li><span style=\"color: black\">Hemoleucogram\u0103 complet\u0103, D-dimeri<\/span><\/li>\n<li><span style=\"color: black\">Consiliere genetic\u0103\/hematologic\u0103<\/span><\/li>\n<\/ul>\n<\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiza de trombofilie CVD-14 identific\u0103 variante genetice germinale implicate \u00een coagulare, fibrinoliz\u0103 \u0219i metabolism lipidic. Rezultatul sprijin\u0103 stratificarea riscului trombotic \u0219i cardiovascular, deciziile de profilaxie \u0219i conduita terapeutic\u0103, \u00een context clinic.<\/p>\n<h2><\/h2>\n<p><strong>\u021ainte analizate<\/strong><\/p>\n<\/p>\n<p>F5 G1691A (Leiden); F5 H1299R (R2); F2 G20210A; MTHFR C677T; MTHFR A1298C; CBS 844ins68 I\/D; PAI-1 (SERPINE1) 4G\/5G; ITGB3 (GPIIIa) T1565C (HPA\u20111 a\/b); ACE I\/D; AGT g.9543T&gt;C (M235T); AGTR1 (ATR\u20111) A1166C; FGB (\u03b2\u2011fibrinogen) \u2212455 G&gt;A; F13A1 (Factor XIII) g.7130G&gt;T (V34L); APOE C112R \u0219i R158C.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,2876,3215],"product_tag":[],"class_list":{"0":"post-27743","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-serviciu-laborator","7":"product_cat-trombofilie","8":"pa_genetica-fertilitate-infertilitate-fiv","10":"first","11":"instock","12":"sale","13":"virtual","14":"purchasable","15":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27743","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27743"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27743"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27743"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27743"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}