{"id":27360,"date":"2025-06-24T15:56:51","date_gmt":"2025-06-24T12:56:51","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/mutatie-factor-v-leiden-g1691a\/"},"modified":"2026-06-30T17:25:38","modified_gmt":"2026-06-30T14:25:38","slug":"mutatie-factor-v-leiden-g1691a","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/mutatie-factor-v-leiden-g1691a\/","title":{"rendered":"Mutatie Factor V Leiden (G1691A)"},"content":{"rendered":"<p>Factorul V Leiden este o variant\u0103 genetic\u0103 a genei <strong>F5<\/strong>, \u00een care muta\u021bia G1691A determin\u0103 rezisten\u021b\u0103 la inactivarea factorului V de c\u0103tre proteina C activat\u0103. Aceast\u0103 modificare conduce la o stare de hipercoagulabilitate \u0219i cre\u0219te semnificativ riscul de formare a cheagurilor de s\u00e2nge.<\/p>\n<p>Persoanele purt\u0103toare au un risc crescut de tromboz\u0103 venoas\u0103 profund\u0103, embolie pulmonar\u0103 \u0219i complica\u021bii trombotice \u00een contexte de risc crescut, cum ar fi sarcina, utilizarea contraceptivelor estrogenice, interven\u021biile chirurgicale sau imobilizarea prelungit\u0103.<\/p>\n<p>Testul permite identificarea muta\u021biei \u00een stare heterozigot\u0103 sau homozigot\u0103 \u0219i reprezint\u0103 una dintre investiga\u021biile esen\u021biale \u00een diagnosticul trombofiliei ereditare.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<ul>\n<li>Trombofilie ereditar\u0103;<\/li>\n<li>Tromboz\u0103 venoas\u0103 profund\u0103 (TVP);<\/li>\n<li>Tromboembolism pulmonar;<\/li>\n<li>Tromboze recurente la v\u00e2rste tinere;<\/li>\n<li>Complica\u021bii trombotice \u00een sarcin\u0103;<\/li>\n<li>Pierderi recurente de sarcin\u0103;<\/li>\n<li>Preeclampsie;<\/li>\n<li>Restric\u021bie de cre\u0219tere intrauterin\u0103;<\/li>\n<li>Istoric familial de evenimente trombotice.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor hematologi, geneticienilor, obstetricienilor-ginecologi, medicilor de medicin\u0103 intern\u0103, cardiologilor \u0219i altor speciali\u0219ti implica\u021bi \u00een evaluarea pacien\u021bilor cu suspiciune de trombofilie ereditar\u0103 sau istoric trombotic sugestiv.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin tehnica <strong>Real-Time PCR<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n<ul>\n<li>Metoda detecteaz\u0103 muta\u021bia <strong>c.1601G&gt;A (G1691A)<\/strong> din gena <strong>F5<\/strong>, determin\u00e2nd statusul genetic al pacientului:<\/li>\n<li>genotip normal;<\/li>\n<li>heterozigot;<\/li>\n<li>homozigot.<\/li>\n<\/ul>\n<p>Rezultatul este stabil \u00een timp \u0219i nu este influen\u021bat de tratamente anticoagulante sau condi\u021bii fiziologice precum sarcina.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Identific\u0103 cea mai frecvent\u0103 cauz\u0103 genetic\u0103 de trombofilie;<\/li>\n<li>Permite evaluarea riscului individual de tromboz\u0103;<\/li>\n<li>Sprijin\u0103 managementul sarcinii la pacientele cu risc obstetrical;<\/li>\n<li>Ghideaz\u0103 deciziile privind profilaxia anticoagulant\u0103;<\/li>\n<li>Permite consilierea genetic\u0103 familial\u0103;<\/li>\n<li>Ajut\u0103 la identificarea rudelor cu risc crescut.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Detecteaz\u0103 exclusiv muta\u021bia G1691A din gena F5;<\/li>\n<li>Nu exclude alte cauze genetice sau dob\u00e2ndite de trombofilie;<\/li>\n<li>Riscul trombotic este influen\u021bat \u0219i de factori clinici \u0219i de mediu;<\/li>\n<li>Interpretarea trebuie corelat\u0103 cu istoricul personal \u0219i familial.<\/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, conform standardelor pentru analize genetice.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport la 2\u20138\u00b0C.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<ul>\n<li>Factor V Leiden;<\/li>\n<li>F5 G1691A;<\/li>\n<li>Muta\u021bia Leiden;<\/li>\n<li>Test genetic trombofilie Factor V;<\/li>\n<li>Analiz\u0103 Real-Time PCR F5;<\/li>\n<li>Rezisten\u021b\u0103 la proteina C activat\u0103 (APC resistance genetic).<\/li>\n<\/ul>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Muta\u021bia Factor II (protrombina G20210A);<\/li>\n<li>MTHFR C677T \u0219i A1298C;<\/li>\n<li>PAI-1 4G\/5G;<\/li>\n<li>Proteina C, Proteina S;<\/li>\n<li>Antitrombina III;<\/li>\n<li>Anticoagulant lupic;<\/li>\n<li>Anticorpi antifosfolipidici;<\/li>\n<li>Panel complet de trombofilie ereditar\u0103;<\/li>\n<li>Consiliere genetic\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 realizat\u0103 prin tehnica <strong>Real-Time PCR<\/strong>, utilizat\u0103 pentru detectarea muta\u021biei <strong>G1691A<\/strong> din gena <strong>F5<\/strong>, cunoscut\u0103 sub numele de Factor V Leiden, cea mai frecvent\u0103 cauz\u0103 genetic\u0103 de trombofilie ereditar\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-27360","product","type-product","status-publish","product_cat-analize","product_cat-serviciu-laborator","product_cat-trombofilie","pa_medical-conditions-tulburari-de-coagulare-trombofilie-hemofilie","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 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