{"id":26612,"date":"2025-06-24T15:12:12","date_gmt":"2025-06-24T12:12:12","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\/"},"modified":"2026-02-27T17:51:26","modified_gmt":"2026-02-27T15:51:26","slug":"factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\/","title":{"rendered":"Factori genetici de risc pentru trombofilie (mutatii factor II, factor V Leiden, MTHFR C677T\/A1298C, PAI 4G\/5G, factor XIII) &#8211; Real-Time PCR"},"content":{"rendered":"<p>Prin tehnica <strong>Real-Time PCR (RT\u2011PCR)<\/strong>, analiza identific\u0103 muta\u021bii\/polimorfisme germinale (mo\u0219tenite) cu impact asupra coagul\u0103rii. Se raporteaz\u0103 genotipul pentru fiecare marker: F2 (G20210A), F5 Leiden c.1601G&gt;A (p.Arg534Gln), MTHFR (C677T, A1298C), PAI\u20111 (4G\/5G) \u0219i Factor XIII (V34L). Rezultatele sunt interpretate \u00een context clinic, cu recomand\u0103ri orientative privind stratificarea riscului \u0219i necesitatea consultului hematologic.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni \u0219i simptome asociate<\/strong><\/p>\n<\/p>\n<p>Predispozi\u021bia genetic\u0103 la trombofilie se asociaz\u0103 cel mai frecvent cu tromboembolismul venos (TEV: tromboz\u0103 venoas\u0103 profund\u0103 \u0219i\/sau embolie pulmonar\u0103). \u00cen anumite contexte, poate contribui la complica\u021bii obstetricale (pierderi de sarcin\u0103 recurente, restric\u021bie de cre\u0219tere intrauterin\u0103, preeclampsie), \u00een special \u00een asociere cu al\u021bi factori de risc clinici \u0219i\/sau dob\u00e2ndi\u021bi (imobilizare, chirurgie, sarcin\u0103\/puerperiu, contraceptive estrogenice, obezitate, neoplazii).<\/p>\n<\/p>\n<p><strong>Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n<ul>\n<li>Persoanelor cu istoric personal de tromboz\u0103 venoas\u0103 profund\u0103\/embolie pulmonar\u0103 (mai ales &lt; 50 ani sau idiopatic\u0103).<\/li>\n<li>Pacien\u021bilor cu tromboz\u0103 recurent\u0103 sau cu localizare atipic\u0103 (cerebral\u0103, mezenteric\u0103, hepatic\u0103).<\/li>\n<li>Femeilor cu complica\u021bii obstetricale recurente sau planificare de sarcin\u0103\/tehnici de reproducere asistat\u0103.<\/li>\n<li>Candida\u021bilor la terapii hormonale (estrogenice) sau tratamente oncologice, dup\u0103 evaluare medical\u0103.<\/li>\n<li>Rudelor de gradul I ale persoanelor cu variante patogene F2\/F5 confirmate.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p>Secven\u021b\u0103 de lucru: extrac\u021bie ADN din s\u00e2nge periferic, amplificare specific\u0103 \u021bintelor genetice \u0219i detec\u021bie prin Real-Time PCR (sonde specifice).<\/p>\n<\/p>\n<p><strong>Variabile raportate:<\/strong><\/p>\n<\/p>\n<ul>\n<li>F2 G20210A \u2013 detec\u021bie muta\u021bie punctiform\u0103.<\/li>\n<li>F5 Leiden (c.1601G&gt;A, p.Arg534Gln) \u2013 detec\u021bie muta\u021bie punctiform\u0103.<\/li>\n<li>MTHFR C677T \u0219i A1298C \u2013 polimorfisme cu efect asupra metabolismului folatului; utilitate interpretativ\u0103 \u00een context clinic.<\/li>\n<li>PAI-1 4G\/5G \u2013 variant\u0103 a promotorului cu poten\u021bial de modificare a expresiei; marker de susceptibilitate.<\/li>\n<li>FXIII (F13A1) V34L \u2013 polimorfism cu efect variabil asupra stabiliz\u0103rii fibrinei.<\/li>\n<\/ul>\n<p>Controlul calit\u0103\u021bii include martori pozitivi\/negativi \u0219i control intern de amplificare.<\/p>\n<p>Raportarea se face ca genotip (homozigot\/heterozigot\/wild-type), cu men\u021biunea limit\u0103rilor tehnice \u0219i a necesit\u0103\u021bii corel\u0103rii clinice.<\/p>\n<\/p>\n<p><strong>Beneficii si importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Stratificarea riscului de TEV \u0219i sprijin \u00een deciziile de profilaxie \u00een situa\u021bii cu risc crescut (chirurgie, sarcin\u0103, imobilizare).<\/li>\n<li>Informarea conduitei privind contracep\u021bia hormonal\u0103\/terapiile estrogenice.<\/li>\n<li>Consiliere genetic\u0103 familial\u0103 atunci c\u00e2nd se identific\u0103 variante F2\/F5.<\/li>\n<li>Integrare \u00een managementul multidisciplinar (hematologie, obstetric\u0103\u2011ginecologie, oncologie), conform ghidurilor clinice.<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Rezultatul genetic NU substituie evaluarea clinic\u0103. Riscul trombotic final depinde de interac\u021biunea variantelor genetice cu factorii dob\u00e2ndi\u021bi.<\/li>\n<li>Polimorfismele MTHFR (C677T\/A1298C), PAI\u20111 4G\/5G \u0219i FXIII V34L sunt markeri de susceptibilitate cu efect variabil \u0219i relevan\u021b\u0103 limitat\u0103 \u00een absen\u021ba altor factori de risc; interpretarea se face cu pruden\u021b\u0103.<\/li>\n<li>Testul nu evalueaz\u0103 alte cauze de trombofilie (ex.: deficit de proteina C\/S, antitrombina, sindrom antifosfolipidic) \u2013 pot fi necesare analize suplimentare.<\/li>\n<li>Real-Time PCR detecteaz\u0103 \u021binte definite; nu identific\u0103 alte muta\u021bii rare \u00een afara markerilor inclu\u0219i.<\/li>\n<\/ul>\n<p><strong>Analize conexe<\/strong><\/p>\n<\/p>\n<ul>\n<li>Panel extins trombofilie &#8211; Profil 14 mutatii genetice trombofilie; Profil EXTINS factori genetici de risc pentru trombofilie (mutatii Factor V G1691A (Leiden), Factor V H1299R (R2), Factor II G20210A, MTHFR A1298C\/C677T, Factor XIII V34L, Endothelial Protein C Receptor (EPCR), PAI-1 4G\/5G)<\/li>\n<li>Coagulare: Proteina C, Proteina S, Antitrombina III, Lupus anticoagulant, anticorpi anticardiolipin\u0103\/anti\u2011\u03b22GPI<\/li>\n<li>Hemoleucogram\u0103 complet\u0103, D-dimeri<\/li>\n<li>Consiliere genetic\u0103\/hematologic\u0103<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Analiza genetic\u0103 pentru trombofilie<\/strong> evalueaz\u0103 prezen\u021ba unor variante germinale asociate cu predispozi\u021bia la evenimente trombotice venoase. Sunt testate variantele: Factor II (F2) G20210A, Factor V Leiden (F5) c.1601G&gt;A (p.Arg534Gln), MTHFR C677T \u0219i A1298C, PAI-1 4G\/5G \u0219i Factor XIII V34L. Rezultatul sprijin\u0103 evaluarea riscului personal, stabilirea conduitei de preven\u021bie \u0219i managementul terapeutic \u00een contexte clinice specifice (sarcin\u0103, contraceptive hormonale, interven\u021bii chirurgicale, istoric de tromboz\u0103).<\/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":["post-26612","product","type-product","status-publish","product_cat-analize","product_cat-serviciu-laborator","product_cat-trombofilie","pa_medical-conditions-istoric-de-accident-vascular-cerebral-avc","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=\"Analiza genetic\u0103 pentru trombofilie evalueaz\u0103 prezen\u021ba unor variante germinale asociate cu predispozi\u021bia la evenimente trombotice venoase. Sunt testate variantele: Factor II (F2) G20210A, Factor V Leiden (F5) c.1601G&gt;A (p.Arg534Gln), MTHFR C677T \u0219i A1298C, PAI-1 4G\/5G \u0219i Factor XIII V34L. Rezultatul sprijin\u0103 evaluarea riscului personal, stabilirea conduitei de preven\u021bie \u0219i managementul terapeutic \u00een contexte clinice specifice (sarcin\u0103, contraceptive hormonale, interven\u021bii chirurgicale, istoric de tromboz\u0103).\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Factori genetici de risc pentru trombofilie (mutatii factor II, factor V Leiden, MTHFR C677T\/A1298C, PAI 4G\/5G, factor XIII) \u2013 Real-Time PCR - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Analiza genetic\u0103 pentru trombofilie evalueaz\u0103 prezen\u021ba unor variante germinale asociate cu predispozi\u021bia la evenimente trombotice venoase. Sunt testate variantele: Factor II (F2) G20210A, Factor V Leiden (F5) c.1601G&gt;A (p.Arg534Gln), MTHFR C677T \u0219i A1298C, PAI-1 4G\/5G \u0219i Factor XIII V34L. Rezultatul sprijin\u0103 evaluarea riscului personal, stabilirea conduitei de preven\u021bie \u0219i managementul terapeutic \u00een contexte clinice specifice (sarcin\u0103, contraceptive hormonale, interven\u021bii chirurgicale, istoric de tromboz\u0103).\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:12:12+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T15:51:26+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Factori genetici de risc pentru trombofilie (mutatii factor II, factor V Leiden, MTHFR C677T\/A1298C, PAI 4G\/5G, factor XIII) \u2013 Real-Time PCR - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Analiza genetic\u0103 pentru trombofilie evalueaz\u0103 prezen\u021ba unor variante germinale asociate cu predispozi\u021bia la evenimente trombotice venoase. Sunt testate variantele: Factor II (F2) G20210A, Factor V Leiden (F5) c.1601G&gt;A (p.Arg534Gln), MTHFR C677T \u0219i A1298C, PAI-1 4G\/5G \u0219i Factor XIII V34L. Rezultatul sprijin\u0103 evaluarea riscului personal, stabilirea conduitei de preven\u021bie \u0219i managementul terapeutic \u00een contexte clinice specifice (sarcin\u0103, contraceptive hormonale, interven\u021bii chirurgicale, istoric de tromboz\u0103).\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"position\":1,\"name\":\"Prima pagin\\u0103\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"position\":2,\"name\":\"Analize Medicale\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"name\":\"Prima pagin\\u0103\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"position\":3,\"name\":\"Analize\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"position\":4,\"name\":\"Serviciu laborator\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-trombofilie\\\/#listItem\",\"name\":\"Trombofilie\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-trombofilie\\\/#listItem\",\"position\":5,\"name\":\"Trombofilie\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-trombofilie\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/factori-genetici-de-risc-pentru-trombofilie-mutatii-factor-ii-factor-v-leiden-mthfr-c677t-a1298c-pai-4g-5g-factor-xiii-real-time-pcr\\\/#listItem\",\"name\":\"Factori genetici de risc pentru trombofilie (mutatii factor II, factor V Leiden, MTHFR C677T\\\/A1298C, PAI 4G\\\/5G, factor XIII) &#8211; 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