{"id":27704,"date":"2025-06-24T16:49:58","date_gmt":"2025-06-24T13:49:58","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/gena-serpina1\/"},"modified":"2026-06-30T17:18:24","modified_gmt":"2026-06-30T14:18:24","slug":"gena-serpina1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/gena-serpina1\/","title":{"rendered":"Gena Serpina1 – Deficienta de alfa1 antitripsina (Secventiere NGS)"},"content":{"rendered":"

Testul permite analiza complet\u0103 a genei SERPINA1<\/strong>, responsabil\u0103 de sinteza alfa-1- antitripsinei, o protein\u0103 esen\u021bial\u0103 pentru protec\u021bia \u021besutului pulmonar \u00eempotriva degrad\u0103rii enzimatice \u0219i pentru men\u021binerea homeostaziei hepatice.<\/p>\n

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

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

Despre analiza genei SERPINA1 \u2013 deficit de alfa -1 – antitripsin\u0103<\/h3>\n

Gena SERPINA1<\/strong>, localizat\u0103 pe cromozomul 14q32.13, codific\u0103 proteina alfa -1 – antitripsin\u0103 (AAT)<\/strong>, un inhibitor al proteazelor implicat \u00een protec\u021bia \u021besutului pulmonar \u00eempotriva elastazei neutrofile.<\/p>\n

Deficitul de AAT este o boal\u0103 autosomal codominant\u0103<\/strong>, cu expresivitate variabil\u0103, caracterizat\u0103 prin niveluri sc\u0103zute sau func\u021bional anormale ale proteinei.<\/p>\n

Cele mai frecvente variante includ:<\/h3>\n
    \n
  • alela Z (Pi*Z, p.Glu366Lys)<\/strong> \u2013 asociat\u0103 cu reten\u021bie hepatic\u0103 \u0219i deficit seric sever<\/li>\n
  • alela S (Pi*S, p.Glu288Val)<\/strong> \u2013 asociat\u0103 cu reducere moderat\u0103 a nivelului proteic<\/li>\n<\/ul>\n

    Secven\u021bierea NGS permite identificarea:<\/h3>\n
      \n
    • muta\u021biilor punctiforme (SNV)<\/li>\n
    • inser\u021biilor \u0219i dele\u021biilor mici (INDEL)<\/li>\n
    • variantelor splice-site<\/li>\n
    • variantelor rare sau non-clasice ale genei SERPINA1<\/li>\n
    • genotipurilor complexe (PiZZ, Pi<\/em>SZ, Pi*MZ etc.)<\/li>\n<\/ul>\n

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

      Testul este indicat \u00een:<\/h3>\n
        \n
      • emfizem pulmonar precoce<\/li>\n
      • BPOC la nefum\u0103tori sau fum\u0103tori tineri<\/li>\n
      • bron\u0219iectazii de cauz\u0103 necunoscut\u0103<\/li>\n
      • hepatit\u0103 cronic\u0103 criptogenic\u0103<\/li>\n
      • ciroz\u0103 hepatic\u0103 de cauz\u0103 neprecizat\u0103<\/li>\n
      • insuficien\u021b\u0103 hepatic\u0103 neonatal\u0103<\/li>\n
      • icter colestatic la sugar<\/li>\n
      • astm dificil de controlat<\/li>\n
      • sc\u0103derea inexplicabil\u0103 a func\u021biei pulmonare<\/li>\n
      • antecedente familiale de deficit de AAT<\/li>\n<\/ul>\n

        Cui se adreseaz\u0103<\/h3>\n
          \n
        • pacien\u021bilor cu BPOC cu debut precoce<\/li>\n
        • persoanelor cu emfizem f\u0103r\u0103 factori de risc majori<\/li>\n
        • pacien\u021bilor cu afectare hepatic\u0103 inexplicabil\u0103<\/li>\n
        • copiilor cu hepatopatie sau colestaz\u0103 neonatal\u0103<\/li>\n
        • pacien\u021bilor cu bron\u0219iectazii idiopatice<\/li>\n
        • rudelor de gradul I ale pacien\u021bilor diagnostica\u021bi<\/li>\n
        • cuplurilor aflate \u00een consiliere genetic\u0103 reproductiv\u0103<\/li>\n
        • cazurilor cu suspiciune clinic\u0103 de boal\u0103 genetic\u0103 hepatico-pulmonar\u0103<\/li>\n<\/ul>\n

          Metodologie de testare<\/h3>\n
            \n
          • extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n
          • secven\u021biere de nou\u0103 genera\u021bie (NGS) a genei SERPINA1<\/li>\n
          • analiz\u0103 bioinformatic\u0103 a regiunilor codante \u0219i splice<\/li>\n
          • identificarea variantelor:\n
              \n
            • SNV (muta\u021bii punctiforme)<\/li>\n
            • INDEL (inser\u021bii\/dele\u021bii mici)<\/li>\n
            • variante rare sau patologice<\/li>\n<\/ul>\n<\/li>\n
            • clasificare conform ghidurilor ACMG<\/li>\n
            • interpretare clinic\u0103 \u00een corela\u021bie cu fenotipul pulmonar \u0219i hepatic<\/li>\n<\/ul>\n

              Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
                \n
              • confirm\u0103 diagnosticul molecular al deficitului de alfa-1 – antitripsin\u0103<\/li>\n
              • identific\u0103 formele clasice \u0219i non-clasice ale bolii<\/li>\n
              • permite evaluarea riscului pulmonar \u0219i hepatic<\/li>\n
              • sprijin\u0103 interven\u021bia precoce \u0219i preven\u021bia complica\u021biilor<\/li>\n
              • faciliteaz\u0103 screeningul familial \u0219i consilierea genetic\u0103<\/li>\n
              • contribuie la diferen\u021bierea cauzelor de BPOC atipic<\/li>\n
              • permite monitorizare personalizat\u0103 pe termen lung<\/li>\n<\/ul>\n

                Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
                  \n
                • boala are transmitere codominant\u0103, cu expresivitate variabil\u0103<\/li>\n
                • unele variante rare pot avea semnifica\u021bie incert\u0103 (VUS)<\/li>\n
                • un rezultat negativ nu exclude complet deficitul de AAT (posibile mecanisme rare sau nedetectate)<\/li>\n
                • interpretarea trebuie corelat\u0103 cu nivelul seric al alfa-1 – antitripsinei<\/li>\n
                • pot fi necesare teste complementare (fenotipare Pi, dozare seric\u0103 AAT)<\/li>\n
                • fenotipul clinic poate varia semnificativ \u00eentre pacien\u021bi cu acela\u0219i genotip<\/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<\/li>\n
                      • nu necesit\u0103 preg\u0103tire special\u0103<\/li>\n
                      • transport conform protocolului laboratorului<\/li>\n
                      • ADN stabil pentru analiz\u0103 NGS<\/li>\n<\/ul>\n

                        Analize asociate recomandate<\/h3>\n
                          \n
                        • Dozare seric\u0103 alfa-1 – <\/strong>antitripsin\u0103<\/li>\n
                        • Fenotipare Pi <\/strong>(IEF \u2013 isoelectrofocusing)<\/li>\n
                        • Spirometrie \u0219i DLCO<\/li>\n
                        • CT toracic de \u00eenalt\u0103 rezolu\u021bie <\/strong>(HRCT)<\/li>\n
                        • Teste hepatice <\/strong>(ALT, AST, GGT, bilirubin\u0103)<\/li>\n
                        • Panel NGS <\/strong>boli pulmonare genetice<\/li>\n
                        • Consiliere <\/strong>genetic\u0103 familial\u0103<\/li>\n<\/ul>\n

                          Particularitate clinic\u0103 important\u0103<\/h3>\n

                          Deficitul de alfa -1 – antitripsin\u0103 (SERPINA1)<\/strong> este una dintre cele mai frecvente boli genetice subdiagnosticate, cu impact major at\u00e2t pulmonar, c\u00e2t \u0219i hepatic. Secven\u021bierea NGS permite identificarea spectrului muta\u021bional complet, inclusiv variante rare, oferind o baz\u0103 solid\u0103 pentru diagnostic precoce, preven\u021bie \u0219i management personalizat.<\/p>\n","protected":false},"excerpt":{"rendered":"

                          Analiza genei SERPINA1 prin secven\u021biere NGS<\/strong> este un test genetic utilizat pentru identificarea variantelor patogene asociate cu deficitul de alfa-1- antitripsin\u0103 (AATD \u2013 Alpha-1 Antitrypsin Deficiency)<\/strong>, o afec\u021biune ereditar\u0103 cu impact predominant pulmonar \u0219i hepatic.<\/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-27704","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