{"id":27000,"date":"2025-06-24T15:36:22","date_gmt":"2025-06-24T12:36:22","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/mutatie-gena-mthfr-c677t\/"},"modified":"2026-07-02T11:26:49","modified_gmt":"2026-07-02T08:26:49","slug":"mutatie-gena-mthfr-c677t","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/mutatie-gena-mthfr-c677t\/","title":{"rendered":"Mutatie gena MTHFR C677T"},"content":{"rendered":"

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

Muta\u021bia C677T<\/strong> determin\u0103 o reducere semnificativ\u0103 a activit\u0103\u021bii enzimatice MTHFR, \u00een special \u00een forma homozigot\u0103, ceea ce poate duce la cre\u0219terea nivelului de homocistein\u0103 (hiperhomocisteinemie), mai ales \u00een condi\u021bii de aport insuficient de folat \u0219i vitamine din grupul B.<\/p>\n

Aceast\u0103 variant\u0103 genetic\u0103 este frecvent inclus\u0103 \u00een evaluarea trombofiliei ereditare \u0219i a riscului obstetrical, de\u0219i impactul s\u0103u clinic este dependent de contextul metabolic \u0219i de asocierea cu al\u021bi factori genetici sau de mediu.<\/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
  • Afectare vascular\u0103 \u00een context de disfunc\u021bie a metabolismului folatului;<\/li>\n
  • Risc cardiovascular crescut \u00een asociere cu al\u021bi factori de risc.<\/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 prezen\u021ba variantei c.677C>T 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
      • Evalueaz\u0103 statusul genetic al metabolismului folatului;<\/li>\n
      • Permite corelarea cu nivelul de homocistein\u0103;<\/li>\n
      • Ajut\u0103 \u00een evaluarea riscului obstetrical multifactorial;<\/li>\n
      • Sprijin\u0103 deciziile de suplimentare cu folat activ \u0219i vitamine B;<\/li>\n
      • Este parte din panelurile de trombofilie \u0219i fertilitate;<\/li>\n
      • Contribuie la consilierea genetic\u0103.<\/li>\n<\/ul>\n

        Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n
          \n
        • Impactul clinic este variabil \u0219i dependent de context;<\/li>\n
        • Singur\u0103, nu este considerat\u0103 cauz\u0103 major\u0103 de trombofilie;<\/li>\n
        • Relevan\u021ba cre\u0219te \u00een asociere cu alte muta\u021bii MTHFR sau factori de risc;<\/li>\n
        • Interpretarea trebuie corelat\u0103 cu homocisteina \u0219i tabloul 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 C677T;<\/li>\n
          • Varianta MTHFR c.677C>T;<\/li>\n
          • Test genetic metabolism folat;<\/li>\n
          • Analiz\u0103 Real-Time PCR MTHFR;<\/li>\n
          • Polimorfism C677T MTHFR;<\/li>\n
          • Screening genetic trombofilie MTHFR.<\/li>\n<\/ul>\n

            Analize asociate recomandate:<\/h3>\n
              \n
            • MTHFR A1298C;<\/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 C677T<\/strong> din gena MTHFR<\/strong>, variant\u0103 frecvent evaluat\u0103 \u00een cadrul profilului de trombofilie \u0219i al metabolismului 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-27000","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