{"id":105720,"date":"2026-06-16T15:19:23","date_gmt":"2026-06-16T12:19:23","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/boala-wilson-testare-ngs-gena-atp7b\/"},"modified":"2026-06-16T15:19:23","modified_gmt":"2026-06-16T12:19:23","slug":"boala-wilson-testare-ngs-gena-atp7b","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/boala-wilson-testare-ngs-gena-atp7b\/","title":{"rendered":"Boala Wilson – Testare NGS gena ATP7B"},"content":{"rendered":"

Boala Wilson este o afec\u021biune genetic\u0103 autosomal recesiv\u0103 cauzat\u0103 de muta\u021bii \u00een gena ATP7B<\/strong>, implicat\u0103 \u00een transportul \u0219i eliminarea cuprului din organism. Defectul acestei proteine determin\u0103 acumularea progresiv\u0103 de cupru \u00een ficat, creier, cornee \u0219i alte \u021besuturi, duc\u00e2nd la afectare hepatic\u0103, neurologic\u0103 \u0219i psihiatric\u0103.<\/p>\n

Testarea prin secven\u021biere NGS (Next Generation Sequencing)<\/strong> permite analiza complet\u0103 a genei ATP7B \u0219i identificarea variantelor patogene, inclusiv muta\u021bii punctiforme, mici inser\u021bii \u0219i dele\u021bii, fiind metoda standard pentru diagnosticul molecular al bolii Wilson.<\/p>\n

Indica\u021bii de testare<\/h3>\n
    \n
  • Suspiciune clinic\u0103 de boal\u0103 Wilson<\/li>\n
  • Transaminaze crescute inexplicabile la copii sau adul\u021bi tineri<\/li>\n
  • Hepatit\u0103 cronic\u0103 de etiologie necunoscut\u0103<\/li>\n
  • Ciroz\u0103 hepatic\u0103 f\u0103r\u0103 cauz\u0103 evident\u0103<\/li>\n
  • Simptome neurologice (tremor, distonie, tulbur\u0103ri de mers)<\/li>\n
  • Tulbur\u0103ri psihiatrice cu debut precoce<\/li>\n
  • Inele Kayser\u2013Fleischer la examen oftalmologic<\/li>\n
  • Istoric familial de boal\u0103 Wilson<\/li>\n
  • Evaluare genetic\u0103 \u00een context de consiliere familial\u0103<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103<\/h3>\n
      \n
    • Copii, adolescen\u021bi \u0219i adul\u021bi tineri cu afectare hepatic\u0103<\/li>\n
    • Pacien\u021bi cu simptome neurologice sugestive<\/li>\n
    • Persoane cu suspiciune clinic\u0103 de boal\u0103 Wilson<\/li>\n
    • Membri ai familiilor cu muta\u021bii ATP7B cunoscute<\/li>\n
    • Pacien\u021bi \u00een evaluare hepatologic\u0103, neurologic\u0103 sau genetic\u0103<\/li>\n<\/ul>\n

      Metodologie de testare<\/h3>\n

      NGS (Next Generation Sequencing)<\/h3>\n
        \n
      • Secven\u021biere complet\u0103 a genei ATP7B<\/strong><\/li>\n
      • Detectarea muta\u021biilor punctiforme (SNV), inser\u021biilor \u0219i dele\u021biilor mici<\/li>\n
      • Analiz\u0103 bioinformatic\u0103 avansat\u0103 \u0219i interpretare conform ghidurilor ACMG<\/li>\n
      • Poate fi completat\u0103, la nevoie, cu testare CNV (dele\u021bii\/duplic\u0103ri)<\/li>\n<\/ul>\n

        Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
          \n
        • Confirmarea genetic\u0103 a diagnosticului de boal\u0103 Wilson<\/li>\n
        • Detectarea muta\u021biilor responsabile de forme clasice sau atipice<\/li>\n
        • Poate facilita diagnosticul precoce, \u00eenaintea apari\u021biei unor leziuni hepatice sau neurologice severe<\/li>\n
        • Poate contribui la stabilirea conduitei terapeutice \u0219i la ini\u021bierea tratamentului chelator de cupru<\/li>\n
        • Faciliteaz\u0103 screeningul familial \u0219i identificarea purt\u0103torilor<\/li>\n
        • Sus\u021bine consilierea genetic\u0103 reproductiv\u0103<\/li>\n
        • Poate reduce necesitatea unor investiga\u021bii suplimentare invazive \u00een cazurile cu diagnostic genetic confirmat.<\/li>\n<\/ul>\n

          Analize asociate recomandate<\/h3>\n

          Pentru evaluarea complet\u0103 a bolii Wilson se recomand\u0103 asocierea cu:<\/h3>\n
            \n
          • Analiza ATP7B CNV (dele\u021bii\/duplica\u021bii)<\/strong> \u2013 completarea spectrului muta\u021bional<\/li>\n
          • Ceruloplasmin\u0103 seric\u0103<\/li>\n
          • Cupru seric total \u0219i cupru urinar 24h<\/li>\n
          • Examen oftalmologic (inele Kayser\u2013Fleischer)<\/li>\n
          • Transaminaze hepatice (AST, ALT, GGT)<\/li>\n
          • RMN cerebral (\u00een forme neurologice)<\/li>\n
          • Evaluare hepatologic\u0103 complet\u0103<\/li>\n
          • Testare genetic\u0103 familial\u0103 ATP7B<\/li>\n
          • Consiliere genetic\u0103 specializat\u0103<\/li>\n<\/ul>\n

            Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n
              \n
            • 2 x 6 ml s\u00e2nge venos periferic<\/li>\n
            • Tuburi cu anticoagulant EDTA<\/strong><\/li>\n
            • Nu necesit\u0103 condi\u021bii speciale de preg\u0103tire<\/li>\n
            • Transport conform protocolului laboratorului<\/li>\n
            • Recomandat\u0103 transmiterea datelor clinice pentru interpretare optim\u0103<\/li>\n<\/ul>\n

              Denumiri alternative<\/h3>\n
                \n
              • Test genetic boala Wilson<\/li>\n
              • ATP7B NGS sequencing<\/li>\n
              • Analiz\u0103 muta\u021bii ATP7B<\/li>\n
              • Wilson disease genetic test<\/li>\n
              • Secven\u021biere complet\u0103 ATP7B<\/li>\n
              • Test molecular boala Wilson<\/li>\n
              • Genetic testing Wilson disease<\/li>\n
              • ATP7B sequencing analysis<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                Test genetic prin secven\u021biere NGS a genei ATP7B<\/strong>, utilizat pentru diagnosticul bolii Wilson prin identificarea muta\u021biilor punctiforme responsabile de tulburarea metabolismului cuprului.<\/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-105720","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","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