{"id":27511,"date":"2025-06-24T16:39:58","date_gmt":"2025-06-24T13:39:58","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/mutatie-gena-mthfr-a1298c\/"},"modified":"2026-07-02T11:25:23","modified_gmt":"2026-07-02T08:25:23","slug":"mutatie-gena-mthfr-a1298c","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/mutatie-gena-mthfr-a1298c\/","title":{"rendered":"Mutatie gena MTHFR A1298C"},"content":{"rendered":"

Gena MTHFR (metilentetrahidrofolat reductaz\u0103)<\/strong> codific\u0103 o enzim\u0103 esen\u021bial\u0103 implicat\u0103 \u00een metabolismul folatului \u0219i \u00een reglarea nivelului de homocistein\u0103 din organism.<\/p>\n

Muta\u021bia A1298C<\/strong> determin\u0103 o reducere moderat\u0103 a activit\u0103\u021bii enzimatice MTHFR, cu impact variabil asupra metabolismului folatului. Spre deosebire de alte variante, efectul s\u0103u clinic este de obicei mai pu\u021bin sever \u0219i depinde de prezen\u021ba altor factori genetici sau nutri\u021bionali (\u00een special deficitul de folat, vitamina B6 \u0219i B12).<\/p>\n

Aceast\u0103 variant\u0103 este frecvent analizat\u0103 \u00een evaluarea trombofiliei ereditare, a complica\u021biilor obstetricale \u0219i a statusului metabolic al homocisteinei.<\/p>\n

Afec\u021biuni sau simptome asociate:<\/h3>\n
    \n
  • Hiperhomocisteinemie u\u0219oar\u0103 (\u00een anumite contexte);<\/li>\n
  • Trombofilie ereditar\u0103 (factor de risc adjuvant);<\/li>\n
  • Complica\u021bii obstetricale (\u00een asociere cu al\u021bi factori genetici);<\/li>\n
  • Pierderi recurente de sarcin\u0103;<\/li>\n
  • Preeclampsie;<\/li>\n
  • Defecte de tub neural (risc multifactorial);<\/li>\n
  • Afectare vascular\u0103 \u00een context de deficit de folat;<\/li>\n
  • Oboseal\u0103 \u0219i tulbur\u0103ri metabolice nespecifice (asociere indirect\u0103).<\/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 trombofiliei, infertilit\u0103\u021bii sau riscului obstetrical.<\/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 prezen\u021ba variantei c.1298A>C din gena MTHFR \u0219i stabile\u0219te statusul genetic:<\/h3>\n
      \n
    • genotip normal;<\/li>\n
    • heterozigot;<\/li>\n
    • homozigot.<\/li>\n<\/ul>\n

      Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n
        \n
      • Contribuie la evaluarea statusului genetic al metabolismului folatului;<\/li>\n
      • Poate ajuta \u00een interpretarea nivelurilor de homocistein\u0103;<\/li>\n
      • Util \u00een evaluarea riscului obstetrical \u00een context multifactorial;<\/li>\n
      • Sprijin\u0103 deciziile privind suplimentarea cu folat activ;<\/li>\n
      • Parte din panelurile de trombofilie \u0219i fertilitate;<\/li>\n
      • Contribuie la consilierea genetic\u0103 \u00een context familial.<\/li>\n<\/ul>\n

        Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n
          \n
        • Muta\u021bia A1298C are, de regul\u0103, impact clinic moderat;<\/li>\n
        • Singur\u0103, nu este considerat\u0103 o cauz\u0103 major\u0103 de trombofilie;<\/li>\n
        • Relevan\u021ba clinic\u0103 cre\u0219te \u00een asociere cu alte muta\u021bii MTHFR sau factori de risc;<\/li>\n
        • Interpretarea trebuie corelat\u0103 cu nivelul homocisteinei \u0219i contextul clinic.<\/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 A1298C;<\/li>\n
          • Varianta MTHFR c.1298A>C;<\/li>\n
          • Test genetic metabolism folat;<\/li>\n
          • Analiz\u0103 Real-Time PCR MTHFR;<\/li>\n
          • Polimorfism MTHFR A1298C;<\/li>\n
          • Screening genetic trombofilie MTHFR.<\/li>\n<\/ul>\n

            Analize asociate recomandate:<\/h3>\n
              \n
            • MTHFR C677T;<\/li>\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
            • Profil trombofilie complet;<\/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 muta\u021biei A1298C<\/strong> din gena MTHFR<\/strong>, variant\u0103 frecvent evaluat\u0103 \u00een cadrul profilului de trombofilie \u0219i metabolism al folatului.<\/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-27511","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