{"id":27759,"date":"2025-06-24T15:52:46","date_gmt":"2025-06-24T13:52:46","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/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-recept\/"},"modified":"2026-02-27T18:05:57","modified_gmt":"2026-02-27T16:05:57","slug":"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-recept","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/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-recept\/","title":{"rendered":"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)"},"content":{"rendered":"

Analiza genetic\u0103 extins\u0103 pentru trombofilie este o investiga\u021bie molecular\u0103 complex\u0103 care detecteaz\u0103 variante genetice mo\u0219tenite implicate \u00een reglarea proceselor de coagulare \u0219i fibrinoliz\u0103<\/strong>.<\/p>\n<\/p>\n

Testul permite identificarea muta\u021biilor \u0219i polimorfismelor cu rol dovedit \u00een cre\u0219terea riscului de tromboz\u0103 venoas\u0103 profund\u0103, embolie pulmonar\u0103 <\/strong>\u0219i complica\u021bii obstetricale<\/strong> (pierderea sarcinii, preeclampsie, restric\u021bie de cre\u0219tere intrauterin\u0103).<\/p>\n<\/p>\n

Analiza se realizeaz\u0103 din ADN extras din s\u00e2nge venos (EDTA) prin metoda PCR urmat\u0103 de hibridizare pe strip (reverse hybridization assay)<\/strong>, care permite identificarea simultan\u0103 a mai multor muta\u021bii \u00eentr-o singur\u0103 reac\u021bie.<\/p>\n

Raportarea rezultatelor se face sub form\u0103 de genotip<\/strong> (homo- sau heterozigot), cu interpretare clinic\u0103 integrat\u0103.<\/p>\n<\/p>\n

Genele analizate \u0219i semnifica\u021bia lor clinic\u0103<\/strong><\/p>\n<\/p>\n

1. F5 \u2013 Factorul V (Leiden G1691A \u0219i H1299R – R2)<\/strong><\/p>\n<\/p>\n

Rol: <\/strong>Factor cheie \u00een coagulare.<\/p>\n

Leiden (G1691A):<\/strong> cea mai frecvent\u0103 cauz\u0103 de trombofilie ereditar\u0103. <\/p>\n

Provoac\u0103 rezisten\u021b\u0103 la proteina C activat\u0103 (APC) <\/strong>\u2192 risc crescut de tromboz\u0103 venoas\u0103 (5\u201310\u00d7 la heterozigo\u021bi, p\u00e2n\u0103 la 80\u00d7 la homozigo\u021bi).<\/p>\n

H1299R (R2)<\/strong>: variant\u0103 cu efect individual redus, dar amplific\u0103 riscul c\u00e2nd este asociat\u0103 cu Leiden.<\/p>\n<\/p>\n

2. F2 \u2013 Factorul II (Protrombina G20210A)<\/strong><\/p>\n<\/p>\n

Rol: <\/strong>precursor al trombinei.<\/p>\n

Muta\u021bia G20210A<\/strong> determin\u0103 niveluri crescute de protrombin\u0103 \u0219i o tendin\u021b\u0103 de coagulare accentuat\u0103.<\/p>\n

Cre\u0219te riscul de tromboembolism venos (TEV)<\/strong> \u0219i poate contribui la complica\u021bii de sarcin\u0103<\/strong> (preeclampsie, pierderi recurente).<\/p>\n<\/p>\n

3. MTHFR \u2013 Metilentetrahidrofolat-reductaza (C677T \u0219i A1298C)<\/strong><\/p>\n<\/p>\n

Rol:<\/strong> metabolismul acidului folic \u0219i al homocisteinei.<\/p>\n

C677T:<\/strong> reduce activitatea enzimei \u2192 poate duce la hiperhomocisteinemie<\/strong>, cu efect pro-trombotic \u00een prezen\u021ba altor factori (deficit de folat, sarcin\u0103, contraceptive).<\/p>\n

A1298C:<\/strong> efect mai bl\u00e2nd, dar \u00een combina\u021bie cu C677T poate amplifica riscul.<\/p>\n

Not\u0103: <\/strong>polimorfismele MTHFR sunt markeri de susceptibilitate<\/strong>, nu cauze directe de trombofilie.<\/p>\n<\/p>\n

4. F13A1 \u2013 Factorul XIII (V34L)<\/strong><\/p>\n<\/p>\n

Rol:<\/strong> stabilizeaz\u0103 re\u021beaua de fibrin\u0103 (cheagul de s\u00e2nge).<\/p>\n

Varianta V34L<\/strong> influen\u021beaz\u0103 structura fibrinei; \u00een unele cazuri poate avea efect protector<\/strong>, \u00een altele modulator<\/strong>, \u00een func\u021bie de alte muta\u021bii asociate (F5, F2, PAI-1).<\/p>\n<\/p>\n

5. PAI-1 (4G\/5G)<\/strong><\/p>\n<\/p>\n

Rol:<\/strong> controleaz\u0103 fibrinoliza (dizolvarea cheagurilor).<\/p>\n

Varianta 4G<\/strong> determin\u0103 niveluri crescute de PAI-1 <\/strong>\u2192 scade activitatea fibrinolitic\u0103 \u2192 cre\u0219te riscul de tromboz\u0103.<\/p>\n

Asociat\u0103 cu pierderi de sarcin\u0103, preeclampsie \u0219i tendin\u021b\u0103 procoagulant\u0103<\/strong>.<\/p>\n<\/p>\n

6. EPCR (haplotipurile A1, A2, A3)<\/strong><\/p>\n<\/p>\n

Rol:<\/strong> regleaz\u0103 calea proteinei C \u2013 mecanism natural anticoagulant.<\/p>\n

Sunt analizate variantele C4600G<\/strong> \u0219i G4678C<\/strong>, care definesc trei haplotipuri:<\/p>\n<\/p>\n\n\n\n\n\n\n
Haplotip<\/td>\nCaracteristici<\/td>\nNivel sEPCR*<\/td>\nSemnifica\u021bie clinic\u0103<\/td>\n<\/tr>\n
A1<\/td>\nform\u0103 normal\u0103<\/td>\nnormal<\/td>\nfiziologic<\/td>\n<\/tr>\n
A2<\/td>\nvariant\u0103 rar\u0103<\/td>\nvariabil<\/td>\nefect incert<\/td>\n<\/tr>\n
A3<\/td>\ncon\u021bine alela G (Ser219Gly)<\/td>\ncrescut<\/td>\nasociat cu valori mari de sEPCR \u0219i posibile varia\u021bii ale riscului trombotic<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

* sEPCR = receptor solubil al proteinei C.<\/p>\n<\/p>\n

Haplotipul A3<\/strong> poate modifica echilibrul dintre anticoagulare \u0219i inflama\u021bie<\/strong>.<\/p>\n

Cele mai frecvente combina\u021bii: A1\/A1 (normal), A1\/A3 (heterozigot), A3\/A3 (homozigot)<\/strong>.<\/p>\n

Interpretarea se face \u00een contextul altor muta\u021bii <\/strong>(F5, F2, PAI-1) \u0219i al factorilor de risc dob\u00e2ndi\u021bi (sarcin\u0103, imobilizare, chirurgie).<\/p>\n<\/p>\n

Afec\u021biuni \u0219i simptome asociate<\/strong><\/p>\n<\/p>\n

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 cazuri, poate contribui la complica\u021bii obstetricale (pierderi de sarcin\u0103 recurente, restric\u021bie de cre\u0219tere intrauterin\u0103, preeclampsie), mai ales \u00een asociere cu factori de risc suplimentari (imobilizare, chirurgie, sarcin\u0103, contraceptive hormonale, obezitate, neoplazii).<\/p>\n<\/p>\n

Cui se adreseaz\u0103 analiza<\/strong><\/p>\n<\/p>\n

    \n
  • Persoane cu istoric personal de tromboz\u0103 venoas\u0103 profund\u0103\/embolie pulmonar\u0103 la v\u00e2rste tinere sau f\u0103r\u0103 cauze identificate.<\/li>\n
  • Pacien\u021bi cu tromboze recurente sau localiz\u0103ri atipice (cerebral\u0103, mezenteric\u0103, hepatic\u0103).<\/li>\n
  • Femei cu pierderi repetate de sarcin\u0103 sau cu antecedente obstetricale patologice.<\/li>\n
  • Pacien\u021bi cu istoric familial de tromboz\u0103 sau rude purt\u0103toare ale unor muta\u021bii confirmate.<\/li>\n
  • Persoane care urmeaz\u0103 tratamente hormonale, chimioterapie sau se preg\u0103tesc pentru interven\u021bii chirurgicale majore.<\/li>\n<\/ul>\n

    Metodologie de testare<\/strong><\/p>\n<\/p>\n

    Analiza genetic\u0103 extins\u0103 pentru trombofilie se realizeaz\u0103 din ADN genomic<\/strong> extras din s\u00e2nge venos periferic <\/strong>(EDTA).<\/p>\n

    Testul utilizeaz\u0103 o metod\u0103 molecular\u0103 de tip PCR (Polymerase Chain Reaction)<\/strong> urmat\u0103 de hibridizare pe strip (reverse-hybridization assay)<\/strong>, care permite detectarea simultan\u0103 \u0219i precis\u0103 a variantelor genetice implicate \u00een predispozi\u021bia la tromboz\u0103.<\/p>\n<\/p>\n

    Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n

      \n
    • Stratificarea riscului trombotic \u0219i individualizarea profilaxiei sau tratamentului.<\/li>\n
    • Sprijin \u00een deciziile privind contracep\u021bia, sarcina \u0219i tratamentele hormonale.<\/li>\n
    • Optimizarea monitoriz\u0103rii perioperatorii pentru pacien\u021bii cu risc crescut.<\/li>\n
    • Consiliere genetic\u0103 familial\u0103 pentru identificarea persoanelor la risc \u0219i m\u0103suri preventive adecvate.<\/li>\n<\/ul>\n

      Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n

      Analiza genetic\u0103 extins\u0103 pentru trombofilie ofer\u0103 o evaluare complet\u0103 a riscului ereditar de hipercoagulabilitate, prin testarea genelor F5 (Leiden, R2), F2, MTHFR, F13A1, PAI-1 \u0219i EPCR<\/strong> (cu determinarea haplotipurilor A1, A2, A3). Testul eviden\u021biaz\u0103 muta\u021biile \u0219i polimorfismele implicate \u00een reglarea coagul\u0103rii \u0219i fibrinolizei, f\u0103r\u0103 a fi influen\u021bat de tratamentele anticoagulante sau de valorile curente ale coagul\u0103rii.<\/p>\n<\/p>\n

      Rezultatele trebuie interpretate \u00een context clinic, \u021bin\u00e2nd cont de istoricul personal \u0219i familial, precum \u0219i de factorii de risc dob\u00e2ndi\u021bi (sarcin\u0103, obezitate, imobilizare, tratamente hormonale). Polimorfismele MTHFR, PAI-1, F13A1 \u0219i EPCR<\/strong> sunt markeri de susceptibilitate<\/strong>, nu cauze directe de trombofilie; prezen\u021ba lor nu implic\u0103 obligatoriu apari\u021bia trombozei.<\/p>\n<\/p>\n

      Testul nu acoper\u0103 alte cauze genetice sau dob\u00e2ndite de trombofilie (deficit de Protein\u0103 C, Protein\u0103 S, Antitrombin\u0103, sindrom antifosfolipidic) \u0219i nu m\u0103soar\u0103 nivelurile plasmatice ale proteinelor implicate. Rezultatele au valoare predictiv\u0103<\/strong>, nu diagnostic\u0103, \u0219i necesit\u0103 interpretare de c\u0103tre medicul genetician sau hematolog, \u00een corela\u021bie cu tabloul clinic<\/p>\n<\/p>\n

      Analize conexe<\/strong><\/p>\n<\/p>\n

        \n
      • Trombofilie \u2013 panel de baz\u0103 (F2, F5, MTHFR, PAI-1, FXIII)<\/li>\n
      • Teste de coagulare: Proteina C, Proteina S, Antitrombina III, Lupus anticoagulant, anticorpi antifosfolipidici<\/li>\n
      • Hemoleucogram\u0103, D-dimeri<\/li>\n
      • Consiliere genetic\u0103\/hematologic\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

        Analiza genetic\u0103 extins\u0103 pentru trombofilie investigheaz\u0103 prezen\u021ba unor variante genetice mo\u0219tenite care influen\u021beaz\u0103 echilibrul dintre coagulare \u0219i fibrinoliz\u0103, determin\u00e2nd o predispozi\u021bie crescut\u0103 la formarea cheagurilor de s\u00e2nge (tromboze venoase \u0219i, mai rar, arteriale).<\/p>\n<\/p>\n

        Panelul include testarea variantelor cu relevan\u021b\u0103 clinic\u0103 confirmat\u0103:<\/p>\n

        Factor V Leiden (G1691A), Factor V H1299R (R2), Factor II G20210A, MTHFR C677T\/A1298C, Factor XIII V34L, PAI-1 4G\/5G \u0219i haplotipurile EPCR (A1\/A2\/A3).<\/strong><\/p>\n<\/p>\n

        Rezultatul ofer\u0103 informa\u021bii esen\u021biale pentru evaluarea riscului trombotic, preven\u021bia complica\u021biilor \u0219i managementul terapeutic individualizat, \u00een special \u00een contextul sarcinii, contracep\u021biei hormonale, interven\u021biilor chirurgicale sau al unui istoric personal ori familial de tromboz\u0103.<\/strong><\/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-27759","product","type-product","status-publish","product_cat-analize","product_cat-serviciu-laborator","product_cat-trombofilie","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27759","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=27759"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27759"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27759"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27759"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}