{"id":27168,"date":"2025-06-24T15:46:04","date_gmt":"2025-06-24T12:46:04","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/sindrom-gilbert-screening-pentru-polimorfismul-ugt1a128-rs8175347\/"},"modified":"2026-06-19T18:30:39","modified_gmt":"2026-06-19T15:30:39","slug":"sindrom-gilbert-screening-pentru-polimorfismul-ugt1a128-rs8175347","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/sindrom-gilbert-screening-pentru-polimorfismul-ugt1a128-rs8175347\/","title":{"rendered":"Sindrom Gilbert – screening pentru polimorfismul UGT1A1*28 (rs8175347)"},"content":{"rendered":"

Sindromul Gilbert este o afec\u021biune genetic\u0103 frecvent\u0103, determinat\u0103 de reducerea activit\u0103\u021bii enzimei UDP-glucuronosiltransferaza 1A1 (UGT1A1)<\/strong>, responsabil\u0103 de conjugarea bilirubinei \u00een ficat.<\/p>\n

Varianta genetic\u0103 UGT1A1*28 (rs8175347)<\/strong> const\u0103 \u00eentr-o repeti\u021bie suplimentar\u0103 \u00een regiunea promotor a genei UGT1A1, ceea ce duce la sc\u0103derea expresiei enzimatice \u0219i la acumularea moderat\u0103 de bilirubin\u0103 indirect\u0103 \u00een s\u00e2nge.<\/p>\n

Testul permite identificarea genotipului asociat:<\/h3>\n
    \n
  • homozigot UGT1A1*28\/*28 (activitate enzimatic\u0103 redus\u0103 semnificativ)<\/li>\n
  • heterozigot (activitate intermediar\u0103)<\/li>\n
  • genotip normal (activitate enzimatic\u0103 normal\u0103)<\/li>\n<\/ul>\n

    Aceast\u0103 analiz\u0103 are importan\u021b\u0103 \u00een:<\/h3>\n
      \n
    • interpretarea valorilor crescute de bilirubin\u0103<\/li>\n
    • evaluarea riscului de reac\u021bii adverse la anumite medicamente metabolizate prin UGT1A1<\/li>\n
    • diferen\u021bierea sindromului Gilbert de alte cauze hepatice<\/li>\n<\/ul>\n

      Indica\u021bii de testare<\/h3>\n
        \n
      • Hiperbilirubinemie izolat\u0103 (bilirubin\u0103 indirect\u0103 crescut\u0103)<\/li>\n
      • Suspiciune de sindrom Gilbert<\/li>\n
      • Icter intermitent f\u0103r\u0103 cauz\u0103 hepatic\u0103 structural\u0103<\/li>\n
      • Evaluare pre-terapeutic\u0103 pentru medicamente metabolizate prin UGT1A1<\/li>\n
      • Oboseal\u0103, stres sau post asociate cu cre\u0219terea bilirubinei<\/li>\n
      • Istoric familial de sindrom Gilbert<\/li>\n
      • Evaluare diferen\u021bial\u0103 \u00een context de analize hepatice modificate<\/li>\n<\/ul>\n

        Cui se adreseaz\u0103<\/h3>\n
          \n
        • Pacien\u021bilor cu bilirubin\u0103 crescut\u0103 inexplicabil<\/li>\n
        • Persoanelor cu suspiciune de sindrom Gilbert<\/li>\n
        • Pacien\u021bilor \u00eenainte de tratamente medicamentoase cu risc metabolic UGT1A1-dependent<\/li>\n
        • Persoanelor cu istoric familial de hiperbilirubinemie benign\u0103<\/li>\n
        • Medicilor hepatologi, gastroenterologi \u0219i interni\u0219ti<\/li>\n<\/ul>\n

          Metodologie de testare<\/h3>\n
            \n
          • Extrac\u021bie ADN din s\u00e2nge periferic<\/li>\n
          • Analiza polimorfismului UGT1A1*28 (rs8175347)<\/strong><\/li>\n
          • Tehnic\u0103 de genotipare molecular\u0103 (PCR \/ fragment analysis sau secven\u021biere)<\/li>\n
          • Identificarea varia\u021biei num\u0103rului de repet\u0103ri TA \u00een promotorul genei UGT1A1<\/li>\n
          • Interpretare genetic\u0103 a activit\u0103\u021bii enzimatice prezise<\/li>\n<\/ul>\n

            Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
              \n
            • Confirm\u0103 diagnosticul genetic al sindromului Gilbert<\/li>\n
            • Explic\u0103 hiperbilirubinemia benign\u0103 izolat\u0103<\/li>\n
            • Poate reduce necesitatea unor investiga\u021bii hepatice suplimentare<\/li>\n
            • Ajut\u0103 la diferen\u021bierea de boli hepatice patologice<\/li>\n
            • Permite evaluarea riscului de reac\u021bii adverse medicamentoase<\/li>\n
            • Sprijin\u0103 deciziile terapeutice personalizate<\/li>\n
            • Ofer\u0103 claritate \u00een cazuri cu bilirubin\u0103 crescut\u0103 persistent\u0103<\/li>\n<\/ul>\n

              Analize asociate recomandate<\/h3>\n

              Investiga\u021bii hepatice \u0219i metabolice<\/h3>\n
                \n
              • Bilirubin\u0103 total\u0103 \u0219i frac\u021bionat\u0103<\/li>\n
              • ALT, AST, GGT<\/li>\n
              • Fosfataz\u0103 alcalin\u0103<\/li>\n
              • Profil hepatic complet<\/li>\n<\/ul>\n

                Teste genetice asociate<\/h3>\n
                  \n
                • UGT1A1 extins (alte variante rare)<\/li>\n
                • Panel farmacogenetic (metabolizare medicamente)<\/li>\n
                • Testare enzimatic\u0103 hepatic\u0103 func\u021bional\u0103 (\u00een contexte selectate)<\/li>\n<\/ul>\n

                  Evalu\u0103ri diferen\u021biale<\/h3>\n
                    \n
                  • Screening hepatite virale (HBV, HCV)<\/li>\n
                  • Ecografie abdominal\u0103<\/li>\n
                  • Excluderea hemolizei (LDH, haptoglobin\u0103, reticulocite)<\/li>\n<\/ul>\n

                    Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n

                    S\u00e2nge total pe heparina (dop verde)<\/h3>\n
                      \n
                    • Nu necesit\u0103 condi\u021bii speciale de preg\u0103tire<\/li>\n<\/ul>\n

                      Documente necesare<\/h3>\n
                        \n
                      • Bilet de trimitere \/ recomandare medical\u0103<\/li>\n
                      • Date clinice relevante (bilirubin\u0103 crescut\u0103, simptome)<\/li>\n
                      • Istoric familial (dac\u0103 exist\u0103)<\/li>\n<\/ul>\n

                        Denumiri alternative<\/h3>\n
                          \n
                        • UGT1A1 genotyping<\/li>\n
                        • Gilbert syndrome genetic test<\/li>\n
                        • UGT1A1*28 polymorphism analysis<\/li>\n
                        • rs8175347 genotyping<\/li>\n
                        • Bilirubin metabolism genetic test<\/li>\n
                        • UDP-glucuronosyltransferase 1A1 test<\/li>\n
                        • Pharmacogenetic UGT1A1 test<\/li>\n
                        • Gilbert disease molecular diagnosis<\/li>\n
                        • UGT1A1 promoter variant test<\/li>\n
                        • Genetic test for hyperbilirubinemia<\/li>\n<\/ul>\n

                          Particularit\u0103\u021bi ale testului<\/h3>\n

                          Aceast\u0103 analiz\u0103 investigheaz\u0103 exclusiv polimorfismul UGT1A1*28 (rs8175347)<\/strong>, cel mai frecvent asociat cu sindromul Gilbert. Rezultatul trebuie interpretat \u00een context clinic, deoarece hiperbilirubinemia poate avea \u0219i alte cauze hepatice sau hematologice. Testul are valoare diagnostic\u0103 \u0219i farmacogenetic\u0103, contribuind la personalizarea evalu\u0103rii medicale.<\/p>\n","protected":false},"excerpt":{"rendered":"

                          Test genetic care detecteaz\u0103 polimorfismul UGT1A1*28 (rs8175347)<\/strong>, asociat cu sindromul Gilbert<\/strong>, o afec\u021biune benign\u0103 caracterizat\u0103 prin cre\u0219terea intermitent\u0103 a bilirubinei indirecte. Analiza permite confirmarea predispozi\u021biei genetice pentru metabolizarea redus\u0103 a bilirubinei.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27168","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","pa_body-parts-ficat-si-colecist","pa_body-systems-sistem-digestiv","pa_medical-conditions-litiaza-biliara-icter","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