{"id":26674,"date":"2025-06-24T15:16:00","date_gmt":"2025-06-24T12:16:00","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/smn-1-smn-2-testare-mlpa\/"},"modified":"2026-06-30T17:18:50","modified_gmt":"2026-06-30T14:18:50","slug":"smn-1-smn-2-testare-mlpa","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/smn-1-smn-2-testare-mlpa\/","title":{"rendered":"Gena SMN1 si gena SMN2 – Atrofia musculara spinala (testare MLPA)"},"content":{"rendered":"

Testul permite determinarea num\u0103rului de copii ai genelor SMN1 \u0219i SMN2<\/strong>, esen\u021bial pentru confirmarea diagnosticului de SMA, evaluarea severit\u0103\u021bii bolii \u0219i stabilirea prognosticului.<\/p>\n

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

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

Despre analiza SMN1 \u0219i SMN2 \u2013 atrofie muscular\u0103 spinal\u0103<\/h3>\n

Gena SMN1<\/strong>, localizat\u0103 pe cromozomul 5q13, este responsabil\u0103 de producerea proteinei Survival Motor Neuron (SMN)<\/strong>, esen\u021bial\u0103 pentru func\u021bionarea neuronilor motori.<\/p>\n

\u00cen majoritatea cazurilor de SMA, boala este cauzat\u0103 de:<\/h3>\n
    \n
  • dele\u021bia homozigot\u0103 a genei SMN1 <\/strong>(exon 7 \u0219i\/sau exon 8)<\/li>\n
  • sau conversii genetice SMN1 \u2192 SMN2<\/li>\n<\/ul>\n

    Gena SMN2<\/strong> este o copie aproape identic\u0103 a SMN1, dar produce doar o cantitate mic\u0103 de protein\u0103 func\u021bional\u0103. Num\u0103rul de copii SMN2 influen\u021beaz\u0103 direct severitatea bolii.<\/p>\n

    Rolul SMN1 \u0219i SMN2 \u00een SMA<\/h3>\n
      \n
    • SMN1<\/strong> \u2013 gen\u0103 func\u021bional\u0103 principal\u0103 (produc\u021bia normal\u0103 de protein\u0103 SMN)<\/li>\n
    • SMN2<\/strong> \u2013 gen\u0103 modificatoare de boal\u0103 (modific\u0103 severitatea fenotipului)<\/li>\n<\/ul>\n

      Interpretarea tipic\u0103:<\/h3>\n
        \n
      • 0 copii SMN1 func\u021bionale<\/strong> \u2192 confirm\u0103 diagnosticul de SMA<\/li>\n
      • 1 copie SMN1<\/strong> \u2192 purt\u0103tor heterozigot<\/li>\n
      • 2 sau mai multe copii ale genei SMN2<\/strong> \u2192 influen\u021beaz\u0103 severitatea (mai multe copii = form\u0103 mai u\u0219oar\u0103)<\/li>\n<\/ul>\n

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

        Testul este indicat \u00een:<\/h3>\n
          \n
        • atrofie muscular\u0103 spinal\u0103 tip I, II, III \u0219i IV<\/li>\n
        • hipotonie neonatal\u0103 sever\u0103<\/li>\n
        • sindromul \u201efloppy infant\u201d<\/li>\n
        • sl\u0103biciune muscular\u0103 proximal\u0103 progresiv\u0103<\/li>\n
        • \u00eent\u00e2rziere motorie sever\u0103<\/li>\n
        • dificult\u0103\u021bi de stat \u00een \u0219ezut, mers sau men\u021binerea posturii<\/li>\n
        • insuficien\u021b\u0103 respiratorie neuromuscular\u0103<\/li>\n
        • fascicula\u021bii linguale<\/li>\n
        • reflexe osteotendinoase absente<\/li>\n
        • suspiciune de boal\u0103 neuromuscular\u0103 genetic\u0103<\/li>\n
        • screening familial pentru SMA<\/li>\n<\/ul>\n

          Cui se adreseaz\u0103<\/h3>\n
            \n
          • nou-n\u0103scu\u021bilor cu hipotonie sever\u0103<\/li>\n
          • sugarilor cu \u00eent\u00e2rziere motorie<\/li>\n
          • copiilor cu suspiciune de SMA<\/li>\n
          • pacien\u021bilor cu sl\u0103biciune muscular\u0103 progresiv\u0103<\/li>\n
          • cazurilor cu insuficien\u021b\u0103 respiratorie neuromuscular\u0103<\/li>\n
          • familiilor cu istoric de SMA<\/li>\n
          • cuplurilor \u00een consiliere genetic\u0103 preconcep\u021bional\u0103<\/li>\n
          • programelor de screening neonatal sau familial<\/li>\n<\/ul>\n

            Metodologie de testare<\/h3>\n
              \n
            • extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n
            • tehnic\u0103 MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong><\/li>\n
            • cuantificarea num\u0103rului de copii pentru:\n
                \n
              • gena SMN1<\/strong><\/li>\n
              • gena SMN2<\/strong><\/li>\n<\/ul>\n<\/li>\n
              • analiz\u0103 exon-specific\u0103 (\u00een special exonul 7 \u0219i 8)<\/li>\n
              • detec\u021bia:\n
                  \n
                • dele\u021biilor SMN1<\/li>\n
                • duplic\u0103rilor SMN2<\/li>\n
                • conversiilor SMN1\/SMN2<\/li>\n<\/ul>\n<\/li>\n
                • interpretare conform ghidurilor interna\u021bionale de genetic\u0103<\/li>\n<\/ul>\n

                  Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
                    \n
                  • confirm\u0103 diagnosticul genetic de SMA<\/li>\n
                  • determin\u0103 statusul de purt\u0103tor (SMN1 heterozigot)<\/li>\n
                  • ofer\u0103 informa\u021bii prognostice prin analiza SMN2<\/li>\n
                  • esen\u021bial pentru consilierea genetic\u0103 familial\u0103<\/li>\n
                  • permite diagnostic precoce \u0219i ini\u021biere rapid\u0103 a tratamentului<\/li>\n
                  • contribuie la selec\u021bia terapiei personalizate<\/li>\n
                  • recomandat ca test de prim\u0103 linie \u00een suspiciunea de SMA<\/li>\n<\/ul>\n

                    Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
                      \n
                    • nu detecteaz\u0103 muta\u021bii punctiforme rare ale genei SMN1 (necesit\u0103 secven\u021biere NGS complementar\u0103)<\/li>\n
                    • interpretarea trebuie corelat\u0103 cu fenotipul clinic \u0219i EMG<\/li>\n
                    • pot exista situa\u021bii complexe de conversie genic\u0103 SMN1\/SMN2<\/li>\n
                    • nu \u00eenlocuie\u0219te evaluarea neurologic\u0103 complet\u0103<\/li>\n
                    • unele cazuri rare pot necesita testare suplimentar\u0103 molecular\u0103<\/li>\n
                    • analiza este esen\u021bial\u0103, dar poate necesita integrare cu alte teste genetice<\/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<\/ul>\n

                            Analize asociate recomandate<\/h3>\n
                              \n
                            • Secven\u021biere NGS a genei SMN1<\/strong> \u2013 muta\u021bii punctiforme rare<\/li>\n
                            • Panel NGS <\/strong>boli neuromusculare<\/li>\n
                            • Creatinkinaz\u0103 <\/strong>(CK)<\/li>\n
                            • EMG <\/strong>(electromiografie)<\/li>\n
                            • Evaluare respiratorie <\/strong>(spirometrie)<\/li>\n
                            • Testare familial\u0103 <\/strong>pentru SMA<\/li>\n
                            • Consiliere <\/strong>genetic\u0103 pre \u0219i post-testare<\/li>\n
                            • Screening <\/strong>prenatal SMA<\/li>\n<\/ul>\n

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

                              Testarea combinat\u0103 a genelor SMN1 \u0219i SMN2 prin MLPA<\/strong> reprezint\u0103 standardul de aur \u00een diagnosticul atrofiei musculare spinale. Pe l\u00e2ng\u0103 confirmarea diagnosticului, analiza num\u0103rului de copii SMN2 ofer\u0103 o valoare prognostic\u0103 esen\u021bial\u0103, influen\u021b\u00e2nd direct severitatea bolii \u0219i deciziile terapeutice, inclusiv eligibilitatea pentru terapii moderne modificatoare de boal\u0103.<\/p>\n","protected":false},"excerpt":{"rendered":"

                              Analiza genelor SMN1 \u0219i SMN2 prin tehnica MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong> este un test genetic utilizat pentru diagnosticarea \u0219i caracterizarea complet\u0103 a atrofiei musculare spinal\u0103 (SMA \u2013 Spinal Muscular Atrophy)<\/strong>, o boal\u0103 neuromuscular\u0103 ereditar\u0103 sever\u0103.<\/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-26674","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