{"id":27508,"date":"2025-06-24T16:39:48","date_gmt":"2025-06-24T13:39:48","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/mutatii-gena-mthfr-c677t-a1298c\/"},"modified":"2026-07-02T11:27:16","modified_gmt":"2026-07-02T08:27:16","slug":"mutatii-gena-mthfr-c677t-a1298c","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/mutatii-gena-mthfr-c677t-a1298c\/","title":{"rendered":"Mutatii gena MTHFR (C677T, A1298C)"},"content":{"rendered":"

Gena MTHFR (metilentetrahidrofolat reductaz\u0103)<\/strong> codific\u0103 o enzim\u0103 esen\u021bial\u0103 \u00een metabolismul folatului, cu rol central \u00een conversia homocisteinei \u00een metionin\u0103 \u0219i \u00een men\u021binerea echilibrului metabolic al vitaminelor din grupul B.<\/p>\n

Varianta C677T<\/strong> este asociat\u0103 cu o reducere mai semnificativ\u0103 a activit\u0103\u021bii enzimatice, \u00een special \u00een stare homozigot\u0103, \u00een timp ce A1298C<\/strong> determin\u0103 o reducere mai moderat\u0103 a func\u021biei enzimei.<\/p>\n

Analiza combinat\u0103 a celor dou\u0103 variante ofer\u0103 o imagine mai complet\u0103 asupra statusului genetic al pacientului \u00een ceea ce prive\u0219te metabolismul folatului \u0219i poten\u021bialul risc de hiperhomocisteinemie, \u00een special \u00een contexte multifactoriale (deficit de folat, B12, B6 sau alte condi\u021bii clinice).<\/p>\n

Afec\u021biuni sau simptome asociate:<\/h3>\n
    \n
  • Hiperhomocisteinemie;<\/li>\n
  • Trombofilie ereditar\u0103 (factor de risc adjuvant);<\/li>\n
  • Complica\u021bii obstetricale;<\/li>\n
  • Pierderi recurente de sarcin\u0103;<\/li>\n
  • Preeclampsie;<\/li>\n
  • Defecte de tub neural (risc multifactorial);<\/li>\n
  • Risc cardiovascular crescut \u00een asociere cu al\u021bi factori;<\/li>\n
  • Tulbur\u0103ri metabolice asociate deficitului de folat \u0219i vitamine B.<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103:<\/h3>\n

    Medicilor geneticieni, hematologilor, obstetricienilor-ginecologi, medicilor de medicin\u0103 intern\u0103 \u0219i altor speciali\u0219ti implica\u021bi \u00een evaluarea riscului trombotic, obstetrical sau metabolic.<\/p>\n

    Metodologie de testare:<\/h3>\n

    Analiza este realizat\u0103 prin tehnica Real-Time PCR<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n

    Testul identific\u0103 simultan variantele:<\/h3>\n
      \n
    • c.677C>T (C677T)<\/li>\n
    • c.1298A>C (A1298C)<\/li>\n<\/ul>\n

      Rezultatul stabile\u0219te statusul genetic pentru fiecare variant\u0103 (normal, heterozigot sau homozigot) \u0219i permite evaluarea combinat\u0103 a impactului asupra activit\u0103\u021bii enzimatice MTHFR.<\/p>\n

      Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n
        \n
      • Ofer\u0103 evaluare complet\u0103 a celor dou\u0103 variante principale MTHFR;<\/li>\n
      • Permite corelarea cu nivelul de homocistein\u0103;<\/li>\n
      • Ajut\u0103 \u00een evaluarea riscului obstetrical multifactorial;<\/li>\n
      • Sprijin\u0103 deciziile privind suplimentarea cu folat activ \u0219i vitamine B;<\/li>\n
      • Este util \u00een evaluarea trombofiliei ereditare ca factor de risc adjuvant;<\/li>\n
      • Contribuie la consilierea genetic\u0103 personalizat\u0103.<\/li>\n<\/ul>\n

        Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n
          \n
        • Impactul clinic este variabil \u0219i dependent de contextul metabolic;<\/li>\n
        • Nu reprezint\u0103 singur\u0103 o cauz\u0103 major\u0103 de trombofilie;<\/li>\n
        • Relevan\u021ba cre\u0219te \u00een asociere cu al\u021bi factori genetici \u0219i de mediu;<\/li>\n
        • Interpretarea trebuie corelat\u0103 cu homocisteina \u0219i tabloul clinic general;<\/li>\n
        • Nu exclude alte cauze genetice ale hiperhomocisteinemiei.<\/li>\n<\/ul>\n

          Tip prob\u0103:<\/h3>\n

          S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n

          Recoltare:<\/h3>\n

          Proba se recolteaz\u0103 \u00een vacutainer cu EDTA, conform standardelor pentru analize genetice.<\/p>\n

          Condi\u021bii:<\/h3>\n

          Transport la 2\u20138\u00b0C.<\/p>\n

          Denumiri alternative:<\/h3>\n
            \n
          • MTHFR C677T + A1298C;<\/li>\n
          • Genotipare MTHFR complet\u0103;<\/li>\n
          • Analiz\u0103 Real-Time PCR MTHFR;<\/li>\n
          • Profil genetic metabolism folat;<\/li>\n
          • Screening MTHFR combinat;<\/li>\n
          • Test trombofilie MTHFR.<\/li>\n<\/ul>\n

            Analize asociate recomandate:<\/h3>\n
              \n
            • Homocistein\u0103 plasmatic\u0103;<\/li>\n
            • Factor V Leiden;<\/li>\n
            • Factor II protrombin\u0103;<\/li>\n
            • PAI-1 4G\/5G;<\/li>\n
            • Vitamina B12 \u0219i folat;<\/li>\n
            • Proteina C \u0219i S;<\/li>\n
            • Antitrombina III;<\/li>\n
            • Panel complet de trombofilie ereditar\u0103;<\/li>\n
            • Consiliere genetic\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

              Analiz\u0103 genetic\u0103 molecular\u0103 realizat\u0103 prin tehnica Real-Time PCR<\/strong>, utilizat\u0103 pentru detectarea celor dou\u0103 variante frecvente ale genei MTHFR<\/strong>: C677T<\/strong> \u0219i A1298C<\/strong>, implicate \u00een metabolismul folatului \u0219i \u00een reglarea nivelului de homocistein\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-27508","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":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t