{"id":26614,"date":"2025-06-24T15:12:21","date_gmt":"2025-06-24T12:12:21","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/secventiere-ngs-gena-otc-deficienta-de-ornitin-transcarbamilaza\/"},"modified":"2026-06-19T18:30:11","modified_gmt":"2026-06-19T15:30:11","slug":"secventiere-ngs-gena-otc-deficienta-de-ornitin-transcarbamilaza","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/secventiere-ngs-gena-otc-deficienta-de-ornitin-transcarbamilaza\/","title":{"rendered":"Secventiere NGS \u2013 gena OTC (Deficienta de ornitin-transcarbamilaza)"},"content":{"rendered":"

Deficien\u021ba de ornitin-transcarbamilaz\u0103 (OTC) este o boal\u0103 genetic\u0103 rar\u0103, determinat\u0103 de muta\u021bii din gena OTC<\/strong>, localizat\u0103 pe cromozomul X (Xp21.1).<\/p>\n

Gena OTC codific\u0103 enzima ornitin-transcarbamilaz\u0103<\/strong>, implicat\u0103 \u00een ciclul ureei, principalul mecanism prin care organismul elimin\u0103 excesul de azot sub form\u0103 de uree. Deficitul acestei enzime conduce la acumularea de amoniac \u00een s\u00e2nge (hiperamoniemie<\/strong>), care poate avea efecte neurotoxice severe.<\/p>\n

Manifest\u0103rile clinice sunt variabile \u0219i pot include:<\/h3>\n
    \n
  • hiperamoniemie neonatal\u0103 sever\u0103;<\/li>\n
  • v\u0103rs\u0103turi recurente;<\/li>\n
  • letargie;<\/li>\n
  • convulsii;<\/li>\n
  • encefalopatie;<\/li>\n
  • \u00eent\u00e2rziere \u00een dezvoltare;<\/li>\n
  • tulbur\u0103ri cognitive;<\/li>\n
  • episoade metabolice acute declan\u0219ate de infec\u021bii, post sau aport proteic crescut.<\/li>\n<\/ul>\n

    Fiind o afec\u021biune X-linkat\u0103<\/strong>, formele severe apar predominant la b\u0103ie\u021bi, \u00eens\u0103 \u0219i femeile purt\u0103toare pot prezenta simptome de intensitate variabil\u0103.<\/p>\n

    Analiza NGS permite identificarea variantelor patogene \u0219i probabil patogene la nivelul genei OTC, contribuind la confirmarea diagnosticului \u0219i la managementul familial.<\/p>\n

    Indica\u021bii de testare<\/h3>\n
      \n
    • Suspiciune de tulburare a ciclului ureei<\/li>\n
    • Hiperamoniemie inexplicabil\u0103<\/li>\n
    • Encefalopatie metabolic\u0103<\/li>\n
    • Crize neurologice recurente f\u0103r\u0103 cauz\u0103 identificat\u0103<\/li>\n
    • V\u0103rs\u0103turi recurente asociate cu hiperamoniemie<\/li>\n
    • \u00cent\u00e2rziere de dezvoltare de cauz\u0103 necunoscut\u0103<\/li>\n
    • Istoric familial de deficien\u021b\u0103 OTC<\/li>\n
    • Screening familial dup\u0103 identificarea unei muta\u021bii OTC<\/li>\n
    • Consiliere genetic\u0103 reproductiv\u0103<\/li>\n<\/ul>\n

      Cui se adreseaz\u0103<\/h3>\n
        \n
      • Nou-n\u0103scu\u021bilor cu hiperamoniemie<\/li>\n
      • Copiilor cu suspiciune de boal\u0103 metabolic\u0103 ereditar\u0103<\/li>\n
      • Adul\u021bilor cu episoade metabolice recurente<\/li>\n
      • Femeilor cu istoric familial de deficien\u021b\u0103 OTC<\/li>\n
      • Familiilor afectate de tulbur\u0103ri ale ciclului ureei<\/li>\n
      • Medicilor geneticieni, pediatri, neurologi \u0219i speciali\u0219tilor \u00een boli metabolice<\/li>\n<\/ul>\n

        Metodologie de testare<\/h3>\n
          \n
        • Extrac\u021bie ADN genomic din s\u00e2nge periferic<\/li>\n<\/ul>\n

          Secven\u021biere NGS complet\u0103 a genei OTC<\/h3>\n
            \n
          • Analiza regiunilor codante \u0219i a zonelor intron-exon relevante<\/li>\n<\/ul>\n

            Identificarea:<\/h3>\n
              \n
            • variantelor punctiforme (SNV)<\/li>\n
            • inser\u021biilor \u0219i dele\u021biilor mici (indels)<\/li>\n
            • variantelor patogene \u0219i probabil patogene<\/li>\n
            • Interpretare conform ghidurilor interna\u021bionale de genetic\u0103 medical\u0103<\/li>\n
            • Raport genetic cu relevan\u021b\u0103 clinic\u0103 \u0219i recomand\u0103ri pentru consiliere genetic\u0103<\/li>\n<\/ul>\n

              Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
                \n
              • Confirm\u0103 diagnosticul molecular al deficien\u021bei OTC<\/li>\n
              • Permite ini\u021bierea precoce a tratamentului \u0219i monitoriz\u0103rii<\/li>\n
              • Reduce riscul complica\u021biilor neurologice asociate hiperamoniemiei<\/li>\n
              • Faciliteaz\u0103 screeningul familial \u0219i identificarea purt\u0103torilor<\/li>\n
              • Sprijin\u0103 deciziile reproductive \u0219i consilierea genetic\u0103<\/li>\n
              • Contribuie la managementul personalizat al pacien\u021bilor<\/li>\n
              • Evit\u0103 investiga\u021bii suplimentare inutile<\/li>\n<\/ul>\n

                Analize asociate recomandate<\/h3>\n

                Investiga\u021bii metabolice<\/h3>\n
                  \n
                • Amoniac plasmatic<\/li>\n
                • Aminoacizi plasmatici<\/li>\n
                • Acid orotic urinar<\/li>\n
                • Acizi organici urinari<\/li>\n
                • Profil metabolic extins<\/li>\n<\/ul>\n

                  Teste genetice asociate<\/h3>\n
                    \n
                  • Panel NGS pentru tulbur\u0103rile ciclului ureei<\/li>\n
                  • Exom clinic (WES)<\/li>\n
                  • Testare familial\u0103 \u021bintit\u0103 pentru muta\u021bia identificat\u0103<\/li>\n
                  • MLPA gena OTC (dac\u0103 exist\u0103 suspiciune de dele\u021bii\/duplica\u021bii mari)<\/li>\n<\/ul>\n

                    Monitorizare clinic\u0103<\/h3>\n
                      \n
                    • Func\u021bie hepatic\u0103 (ALT, AST)<\/li>\n
                    • Evaluare neurologic\u0103<\/li>\n
                    • Imagistic\u0103 cerebral\u0103 (la nevoie)<\/li>\n
                    • Monitorizare nutri\u021bional\u0103 \u0219i metabolic\u0103<\/li>\n<\/ul>\n

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

                      S\u00e2nge total EDTA \u2013 2 x 6 ml<\/h3>\n
                        \n
                      • Nu necesit\u0103 condi\u021bii speciale de recoltare<\/li>\n<\/ul>\n

                        Documente necesare<\/h3>\n
                          \n
                        • Recomandare medical\u0103<\/li>\n
                        • Istoric clinic \u0219i metabolic<\/li>\n
                        • Rezultate biochimice relevante (amoniac, aminoacizi etc.)<\/li>\n
                        • Formular de consim\u021b\u0103m\u00e2nt genetic<\/li>\n<\/ul>\n

                          Denumiri alternative<\/h3>\n
                            \n
                          • OTC gene sequencing<\/li>\n
                          • OTC deficiency genetic test<\/li>\n
                          • Ornithine transcarbamylase deficiency NGS<\/li>\n
                          • OTC molecular analysis<\/li>\n
                          • Urea cycle disorder genetic testing<\/li>\n
                          • OTC gene mutation analysis<\/li>\n
                          • Hyperammonemia genetic test<\/li>\n
                          • X-linked OTC deficiency test<\/li>\n
                          • Targeted OTC NGS sequencing<\/li>\n
                          • Ornithine transcarbamylase gene analysis<\/li>\n<\/ul>\n

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

                            Deficien\u021ba de ornitin-transcarbamilaz\u0103 reprezint\u0103 cea mai frecvent\u0103 tulburare a ciclului ureei \u0219i poate avea manifest\u0103ri clinice extrem de variabile, de la forme neonatale severe p\u00e2n\u0103 la forme adulte cu simptomatologie discret\u0103. Analiza NGS a genei OTC permite identificarea majorit\u0103\u021bii variantelor patogene asociate bolii. \u00cen cazul unui rezultat negativ \u0219i a unei suspiciuni clinice puternice, poate fi necesar\u0103 completarea investiga\u021biei prin metode dedicate pentru detectarea dele\u021biilor \u0219i duplica\u021biilor (MLPA) sau prin paneluri metabolice \u0219i genetice extinse.<\/p>\n","protected":false},"excerpt":{"rendered":"

                            Analiz\u0103 genetic\u0103 molecular\u0103 prin secven\u021biere NGS a genei OTC<\/strong>, utilizat\u0103 pentru diagnosticul deficien\u021bei de ornitin-transcarbamilaz\u0103 (OTC deficiency)<\/strong>, cea mai frecvent\u0103 tulburare ereditar\u0103 a ciclului ureei. Testul identific\u0103 variante genetice asociate cu incapacitatea organismului de a elimina eficient amoniacul.<\/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-26614","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