{"id":27635,"date":"2025-06-24T16:46:24","date_gmt":"2025-06-24T13:46:24","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/boala-huntington-gena-htt-analiza-expansiunii-repetitive\/"},"modified":"2026-06-30T15:57:43","modified_gmt":"2026-06-30T12:57:43","slug":"boala-huntington-gena-htt-analiza-expansiunii-repetitive","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/boala-huntington-gena-htt-analiza-expansiunii-repetitive\/","title":{"rendered":"Boala Huntington – gena HTT – analiza expansiunii repetitive"},"content":{"rendered":"

Analiza expansiunii CAG \u00een gena HTT<\/strong> este testul genetic standard pentru confirmarea diagnosticului de boal\u0103 Huntington, evaluarea statusului presimptomatic \u0219i consilierea genetic\u0103 familial\u0103.<\/p>\n

Termen de execu\u021bie*<\/h3>\n

35 zile lucr\u0103toare<\/p>\n

Despre analiza genei HTT \u2013 expansiune CAG (boala Huntington)<\/h3>\n

Gena HTT<\/strong>, localizat\u0103 pe cromozomul 4p16.3, con\u021bine \u00een mod normal o secven\u021b\u0103 repetitiv\u0103 CAG (codific\u00e2nd glutamin\u0103). \u00cen boala Huntington, aceast\u0103 regiune sufer\u0103 o expansiune patologic\u0103 a num\u0103rului de repet\u0103ri CAG<\/strong>, ceea ce determin\u0103 apari\u021bia unei proteine huntingtin anormale, predispus\u0103 la agregare neuronal\u0103.<\/p>\n

Clasificarea alelelor HTT se face \u00een func\u021bie de num\u0103rul de repet\u0103ri:<\/h3>\n
    \n
  • < 26 CAG<\/strong> \u2013 normal<\/li>\n
  • 27\u201335 CAG<\/strong> \u2013 zon\u0103 intermediar\u0103 (instabilitate meiotic\u0103 posibil\u0103)<\/li>\n
  • 36\u201339 CAG<\/strong> \u2013 penetran\u021b\u0103 redus\u0103 \/ variabil\u0103<\/li>\n
  • \u2265 40 CAG<\/strong> \u2013 alel\u0103 patogen\u0103 (boala Huntington se dezvolt\u0103 aproape invariabil)<\/li>\n<\/ul>\n

    Analiza este realizat\u0103 prin tehnici de tip PCR specific pentru repeti\u021bii + fragment analysis prin electroforez\u0103 capilar\u0103<\/strong>, metod\u0103 standard \u00een diagnosticul bolii.<\/p>\n

    Afec\u021biuni sau simptome asociate<\/h3>\n

    Testul este indicat \u00een:<\/h3>\n
      \n
    • boala Huntington (confirmare diagnostic)<\/li>\n
    • tulbur\u0103ri motorii progresive (coree, distonie)<\/li>\n
    • tulbur\u0103ri cognitive progresive (demen\u021b\u0103 subcortical\u0103)<\/li>\n
    • tulbur\u0103ri psihiatrice (depresie, psihoz\u0103, modific\u0103ri comportamentale)<\/li>\n
    • tulbur\u0103ri de coordonare \u0219i mers<\/li>\n
    • debut precoce sau tardiv al simptomelor neurodegenerative<\/li>\n
    • suspiciune clinic\u0103 la pacien\u021bi cu istoric familial pozitiv<\/li>\n
    • evaluare presimptomatic\u0103 la rudele de gradul I<\/li>\n<\/ul>\n

      Cui se adreseaz\u0103<\/h3>\n
        \n
      • pacien\u021bilor cu simptome neurologice sugestive pentru Huntington<\/li>\n
      • persoanelor cu istoric familial de boal\u0103 Huntington<\/li>\n
      • adul\u021bilor care doresc testare presimptomatic\u0103 (consiliere genetic\u0103 obligatorie)<\/li>\n
      • cazurilor cu tulbur\u0103ri motorii \u0219i cognitive de etiologie neclar\u0103<\/li>\n
      • familiilor cu risc genetic cunoscut<\/li>\n<\/ul>\n

        Metodologie de testare<\/h3>\n
          \n
        • extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n
        • amplificarea regiunii CAG din gena HTT prin PCR specific pentru expansiuni<\/strong><\/li>\n
        • analiz\u0103 de fragment prin electroforez\u0103 capilar\u0103<\/strong><\/li>\n
        • determinarea num\u0103rului de repet\u0103ri CAG pe fiecare alel\u0103<\/li>\n
        • clasificarea alelelor ca normale, intermediare sau patogene<\/li>\n
        • analiz\u0103 calitativ\u0103 \u0219i semi-cantitativ\u0103 a expansiunii<\/li>\n
        • interpretare conform ghidurilor interna\u021bionale ACMG<\/li>\n<\/ul>\n

          Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
            \n
          • confirm\u0103 diagnosticul molecular al bolii Huntington<\/li>\n
          • permite testarea presimptomatic\u0103 la persoanele cu risc<\/li>\n
          • ajut\u0103 la consilierea genetic\u0103 familial\u0103 \u0219i planificarea reproductiv\u0103<\/li>\n
          • permite diferen\u021bierea de alte boli neurodegenerative<\/li>\n
          • ofer\u0103 informa\u021bii prognostice corelate cu num\u0103rul de repet\u0103ri CAG<\/li>\n
          • sprijin\u0103 deciziile medicale \u0219i psihologice pe termen lung<\/li>\n
          • contribuie la identificarea formelor atipice sau incipiente<\/li>\n<\/ul>\n

            Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
              \n
            • nu toate metodele de secven\u021biere standard (NGS\/exom\/genom) detecteaz\u0103 corect expansiunile CAG<\/li>\n
            • determinarea exact\u0103 a expansiunilor foarte mari poate avea limit\u0103ri tehnice<\/li>\n
            • pot exista varia\u021bii somatice (mozaicism) care influen\u021beaz\u0103 rezultatul<\/li>\n
            • rezultatul trebuie interpretat strict \u00een context clinic \u0219i familial<\/li>\n
            • un rezultat negativ nu explic\u0103 alte cauze de sindrom parkinsonian sau coreic<\/li>\n
            • testul este strict diagnostic\/predictiv \u0219i necesit\u0103 consiliere genetic\u0103 obligatorie \u00eenainte \u0219i dup\u0103 testare<\/li>\n<\/ul>\n

              Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n

              Prob\u0103 necesar\u0103:<\/h3>\n
                \n
              • s\u00e2nge integral EDTA<\/li>\n<\/ul>\n

                Volum recomandat:<\/h3>\n
                  \n
                • 2 \u00d7 6 ml s\u00e2nge periferic<\/li>\n<\/ul>\n

                  Condi\u021bii de recoltare:<\/h3>\n
                    \n
                  • recoltare venoas\u0103 standard \u00een vacutainer EDTA<\/li>\n
                  • transport conform protocolului laboratorului<\/li>\n
                  • necesar\u0103 consiliere genetic\u0103 pre-testare (\u00een special pentru testare presimptomatic\u0103)<\/li>\n
                  • completarea formularului de consim\u021b\u0103m\u00e2nt informat<\/li>\n<\/ul>\n

                    Analize asociate recomandate<\/h3>\n

                    Panel NGS boli neurodegenerative ereditare<\/h3>\n

                    Test genetic ataxii ereditare<\/h3>\n
                      \n
                    • Analiza FXN (ataxie Friedreich)<\/strong> \u2013 diagnostic diferen\u021bial<\/li>\n
                    • RMN cerebral<\/strong> \u2013 evaluarea atrofiei nucleilor cauda\u021bi<\/li>\n
                    • Evaluare neuropsihologic\u0103<\/strong> \u2013 stadializare cognitiv\u0103<\/li>\n
                    • Testare genetic\u0103 familial\u0103 HTT<\/strong> \u2013 screening rude grad I<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                      Boala Huntington (HD)<\/strong> este o afec\u021biune neurodegenerativ\u0103 ereditar\u0103 cu transmitere autosomal dominant\u0103, determinat\u0103 de expansiunea repet\u0103rilor trinucleotidice CAG<\/strong> \u00een gena HTT (4p16.3)<\/strong>. Aceast\u0103 expansiune conduce la sinteza unei proteine huntingtin cu lan\u021b poliglutaminic extins, care devine toxic\u0103 pentru neuronii din sistemul nervos central, \u00een special la nivelul ganglionilor bazali.<\/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-27635","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","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