{"id":105719,"date":"2026-06-16T15:19:04","date_gmt":"2026-06-16T12:19:04","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/boala-wilson-testare-mlpa-detectarea-deletiilor-si-duplicarilor-in-gena-atp7b\/"},"modified":"2026-06-16T15:19:04","modified_gmt":"2026-06-16T12:19:04","slug":"boala-wilson-testare-mlpa-detectarea-deletiilor-si-duplicarilor-in-gena-atp7b","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/boala-wilson-testare-mlpa-detectarea-deletiilor-si-duplicarilor-in-gena-atp7b\/","title":{"rendered":"Boala Wilson – Testare MLPA (detectarea deletiilor si duplicarilor in gena ATP7B)"},"content":{"rendered":"

Boala Wilson este o boal\u0103 genetic\u0103 autosomal recesiv\u0103 determinat\u0103 de muta\u021bii \u00een gena ATP7B<\/strong>, responsabil\u0103 de transportul cuprului \u0219i eliminarea acestuia prin bil\u0103. Disfunc\u021bia acestei proteine duce la acumularea progresiv\u0103 de cupru \u00een ficat, creier \u0219i alte organe, cu manifest\u0103ri hepatice, neurologice \u0219i psihiatrice.<\/p>\n

Testarea MLPA (Multiplex Ligation-dependent Probe Amplification) permite identificarea dele\u021biilor \u0219i duplic\u0103rilor (CNV \u2013 Copy Number Variations)<\/strong> din gena ATP7B, modific\u0103ri care pot s\u0103 nu fie detectate prin secven\u021biere NGS standard. Astfel, MLPA este esen\u021bial\u0103 pentru completarea diagnosticului genetic al bolii Wilson.<\/p>\n

Indica\u021bii de testare<\/h3>\n
    \n
  • Suspiciune clinic\u0103 de boal\u0103 Wilson<\/li>\n
  • Hepatopatie de cauz\u0103 necunoscut\u0103 la copii sau adul\u021bi tineri<\/li>\n
  • Transaminaze crescute inexplicabil<\/li>\n
  • Simptome neurologice (tremor, distonie, tulbur\u0103ri de coordonare)<\/li>\n
  • Tulbur\u0103ri psihiatrice cu debut precoce<\/li>\n
  • Ciroz\u0103 hepatic\u0103 f\u0103r\u0103 etiologie clar\u0103<\/li>\n
  • Inele Kayser\u2013Fleischer la examen oftalmologic<\/li>\n
  • Istoric familial de boal\u0103 Wilson<\/li>\n
  • Completarea evalu\u0103rii genetice dup\u0103 NGS ATP7B<\/li>\n<\/ul>\n

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

      Metodologie de testare<\/h3>\n

      MLPA (Multiplex Ligation-dependent Probe Amplification)<\/h3>\n
        \n
      • Detectarea varia\u021biilor de num\u0103r de copii (dele\u021bii\/duplic\u0103ri) \u00een gena ATP7B<\/strong><\/li>\n
      • Analiz\u0103 cantitativ\u0103 a exoanelor genei<\/li>\n
      • Complementar\u0103 secven\u021bierii NGS pentru detectarea muta\u021biilor punctiforme<\/li>\n
      • Interpretare conform ghidurilor interna\u021bionale de genetic\u0103 medical\u0103<\/li>\n<\/ul>\n

        Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
          \n
        • Identific\u0103 dele\u021bii\/duplic\u0103ri nedetectabile prin NGS standard<\/li>\n
        • Poate cre\u0219te rata de identificare a modific\u0103rilor genetice asociate bolii Wilson.<\/li>\n
        • Confirm\u0103 diagnosticul molecular \u00een cazuri complexe<\/li>\n
        • Poate contribui la stabilirea precoce a diagnosticului \u0219i la ini\u021bierea tratamentului adecvat<\/li>\n
        • Sus\u021bine screeningul familial \u0219i consilierea genetic\u0103<\/li>\n
        • Poate reduce riscul unui diagnostic genetic incomplete<\/li>\n
        • Optimizeaz\u0103 strategia de testare genetic\u0103 \u00een suspiciunea de boal\u0103 Wilson<\/li>\n<\/ul>\n

          Analize asociate recomandate<\/h3>\n

          Pentru o evaluare complet\u0103 se recomand\u0103 asocierea cu:<\/h3>\n
            \n
          • Secven\u021biere NGS a genei ATP7B<\/strong> \u2013 detectarea muta\u021biilor punctiforme<\/li>\n
          • Ceruloplasmin\u0103 seric\u0103<\/li>\n
          • Cupru seric \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 furnizarea datelor clinice pentru interpretare optim\u0103<\/li>\n<\/ul>\n

              Denumiri alternative<\/h3>\n
                \n
              • ATP7B MLPA test<\/li>\n
              • Boala Wilson CNV analysis<\/li>\n
              • Analiz\u0103 dele\u021bii\/duplic\u0103ri ATP7B<\/li>\n
              • Wilson disease MLPA testing<\/li>\n
              • Test genetic ATP7B CNV<\/li>\n
              • Analiz\u0103 varia\u021bii num\u0103r de copii ATP7B<\/li>\n
              • MLPA boala Wilson<\/li>\n
              • Copy number analysis ATP7B<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                Test genetic de tip MLPA<\/strong> pentru detectarea dele\u021biilor \u0219i duplic\u0103rilor \u00een gena ATP7B<\/strong>, implicat\u0103 \u00een boala Wilson, o afec\u021biune ereditar\u0103 a 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-105719","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