{"id":29586,"date":"2025-07-15T14:04:53","date_gmt":"2025-07-15T11:04:53","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/pachet-profil-trombofilie-ereditara\/"},"modified":"2026-07-02T12:19:54","modified_gmt":"2026-07-02T09:19:54","slug":"pachet-profil-trombofilie-ereditara","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/pachete\/pachet-profil-trombofilie-ereditara\/","title":{"rendered":"Profil trombofilie ereditara"},"content":{"rendered":"<p>Profilul de trombofilie ereditar\u0103 este un pachet diagnostic utilizat pentru identificarea predispozi\u021biei genetice \u0219i func\u021bionale la evenimente tromboembolice (tromboz\u0103 venoas\u0103 profund\u0103, embolie pulmonar\u0103, complica\u021bii obstetricale).<\/p>\n<h3>Testarea include dou\u0103 componente complementare:<\/h3>\n<ul>\n<li><strong>component\u0103 genetic\u0103 (Real-Time PCR)<\/strong> \u2013 identificarea muta\u021biilor asociate cu hipercoagulabilitate;<\/li>\n<li><strong>component\u0103 func\u021bional\u0103 (teste de coagulare)<\/strong> \u2013 evaluarea activit\u0103\u021bii proteinelor anticoagulante naturale.<\/li>\n<\/ul>\n<p>Aceast\u0103 abordare integrat\u0103 permite diferen\u021bierea \u00eentre riscul genetic mo\u0219tenit \u0219i dezechilibrele func\u021bionale dob\u00e2ndite.<\/p>\n<h3>Componentele profilului<\/h3>\n<h3>A. Analize genetice (Real-Time PCR)<\/h3>\n<h3>Detectarea variantelor genetice asociate cu trombofilie:<\/h3>\n<ul>\n<li><strong>Factor V Leiden (F5 G1691A)<\/strong> \u2013 rezisten\u021b\u0103 la proteina C activat\u0103<\/li>\n<li><strong>Factor II (Protrombina G20210A)<\/strong> \u2013 cre\u0219terea sintezei de protrombin\u0103<\/li>\n<li><strong>MTHFR C677T<\/strong> \u2013 afectarea metabolismului homocisteinei<\/li>\n<li><strong>MTHFR A1298C<\/strong> \u2013 varianta asociat\u0103 metabolismului folatului<\/li>\n<li><strong>PAI-1 4G\/5G (SERPINE1)<\/strong> \u2013 inhibarea fibrinolizei<\/li>\n<li><strong>Factor XIII (V34L)<\/strong> \u2013 influen\u021barea stabilit\u0103\u021bii cheagului de fibrin\u0103<\/li>\n<\/ul>\n<h3>B. Analize func\u021bionale (coagulare \/ proteine anticoagulante)<\/h3>\n<ul>\n<li><strong>Antitrombina III (ATIII)<\/strong> \u2013 inhibitor natural al trombinei \u0219i factorilor de coagulare<\/li>\n<li><strong>Proteina C<\/strong> \u2013 sistem anticoagulant dependent de vitamina K<\/li>\n<li><strong>Proteina S liber\u0103 (Free Protein S)<\/strong> \u2013 cofactor al proteinei C \u00een inhibarea coagul\u0103rii<\/li>\n<\/ul>\n<h3>Indica\u021bii de testare<\/h3>\n<ul>\n<li>Episoade de tromboz\u0103 venoas\u0103 sau arterial\u0103<\/li>\n<li>Tromboembolism pulmonar<\/li>\n<li>Istoric familial de tromboze precoce<\/li>\n<li>Avorturi recurente sau complica\u021bii obstetricale<\/li>\n<li>Evaluare \u00eenainte de contraceptive hormonale sau terapie estrogenic\u0103<\/li>\n<li>Sarcin\u0103 cu risc trombotic crescut<\/li>\n<li>Imobilizare prelungit\u0103 sau interven\u021bii chirurgicale majore<\/li>\n<li>Suspiciune de hipercoagulabilitate ereditar\u0103<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Pacien\u021bilor cu istoric de tromboz\u0103<\/li>\n<li>Femeilor cu pierderi de sarcin\u0103 recurente<\/li>\n<li>Pacien\u021bilor cu risc cardiovascular crescut<\/li>\n<li>Medicilor hematologi, ginecologi \u0219i interni\u0219ti<\/li>\n<li>pacien\u021bilor evalua\u021bi \u00eenaintea ini\u021bierii terapiei hormonale<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>Componenta genetic\u0103:<\/h3>\n<ul>\n<li>Extrac\u021bie ADN din s\u00e2nge EDTA<\/li>\n<\/ul>\n<h3>Real-Time PCR pentru muta\u021bii punctiforme \u0219i polimorfisme specifice<\/h3>\n<ul>\n<li>Analiz\u0103 \u021bintit\u0103 a variantelor pro-trombotice<\/li>\n<\/ul>\n<h3>Componenta func\u021bional\u0103:<\/h3>\n<ul>\n<li>Analize de coagulare din plasm\u0103 citrat\u0103<\/li>\n<li>Determinarea activit\u0103\u021bii Antitrombinei III<\/li>\n<li>Dozarea Proteinei C<\/li>\n<li>Dozarea Proteinei S libere<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>Identific\u0103 riscul ereditar de tromboz\u0103<\/li>\n<li>Permite preven\u021bia evenimentelor trombotice<\/li>\n<li>Ghideaz\u0103 decizia terapeutic\u0103 (anticoagulare profilactic\u0103)<\/li>\n<li>Important \u00een managementul sarcinii cu risc<\/li>\n<li>Ajut\u0103 la personalizarea terapiei hormonale<\/li>\n<li>Clarific\u0103 etiologia trombozelor inexplicabile<\/li>\n<li>Permite screeningul familial<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li>Homocistein\u0103 plasmatic\u0103<\/li>\n<li>D-dimeri<\/li>\n<li>INR \/ APTT<\/li>\n<li>Factor VIII activitate<\/li>\n<li>Lipoproteina (a)<\/li>\n<li>Screening obstetrical trombofilie extins<\/li>\n<\/ul>\n<h3>Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n<h3>S\u00e2nge EDTA (componenta genetic\u0103)<\/h3>\n<h3>Plasm\u0103 citrat (componenta de coagulare)<\/h3>\n<ul>\n<li>Recoltare pe nem\u00e2ncate preferabil<\/li>\n<\/ul>\n<h3>Documente necesare<\/h3>\n<ul>\n<li>Recomandare medical\u0103<\/li>\n<li>Istoric personal\/familial de tromboz\u0103<\/li>\n<li>Date obstetricale (dac\u0103 este cazul)<\/li>\n<li>Tratament anticoagulant actual (dac\u0103 exist\u0103)<\/li>\n<\/ul>\n<p><strong>Denumiri alternative <\/strong><\/p>\n<ul>\n<li>Panel trombofilie ereditar\u0103 complet<\/li>\n<li>Profil genetic \u0219i de coagulare pentru tromboz\u0103<\/li>\n<li>Test complex de hipercoagulabilitate<\/li>\n<li>Screening trombofilie genetic\u0103 \u0219i func\u021bional\u0103<\/li>\n<li>Analiz\u0103 risc trombotic ereditar<\/li>\n<li>Profil muta\u021bii trombofilie + coagulare<\/li>\n<li>Test predispozi\u021bie genetic\u0103 la tromboz\u0103<\/li>\n<li>Panel hematologic trombofilie<\/li>\n<li>Evaluare complet\u0103 risc trombotic<\/li>\n<li>Profil anticoagulant \u0219i genetic tromboz\u0103<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi ale testului<\/h3>\n<p>Profilul de trombofilie ereditar\u0103 combin\u0103 evaluarea genetic\u0103 a muta\u021biilor pro-trombotice cu analiza func\u021bional\u0103 a proteinelor anticoagulante, oferind o imagine complet\u0103 asupra riscului de hipercoagulabilitate. Aceast\u0103 abordare integrat\u0103 este esen\u021bial\u0103 pentru preven\u021bia personalizat\u0103 a evenimentelor tromboembolice.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Profil complex de evaluare a riscului de <strong>tromboz\u0103 ereditar\u0103<\/strong>, care combin\u0103 <strong>teste genetice pentru muta\u021bii pro-trombotice<\/strong> \u0219i <strong>teste func\u021bionale ale sistemului de coagulare<\/strong> (proteine anticoagulante naturale \u0219i inhibitori ai coagul\u0103rii).<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[3093,3094],"product_tag":[],"class_list":["post-29586","product","type-product","status-publish","product_cat-pachete","product_cat-pachete-de-analize-medicale","pa_medical-conditions-istoric-de-accident-vascular-cerebral-avc","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 name=\"description\" content=\"Pachet profil trombofilie ereditara - set de analize genetice si de coagulare pentru evaluarea predispozitiei la tromboze. 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