{"id":26860,"date":"2025-06-24T15:27:50","date_gmt":"2025-06-24T12:27:50","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/miopatie-nemaline-tip-2-secventiere-neb\/"},"modified":"2026-06-30T17:01:30","modified_gmt":"2026-06-30T14:01:30","slug":"miopatie-nemaline-tip-2-secventiere-neb","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/miopatie-nemaline-tip-2-secventiere-neb\/","title":{"rendered":"Gena NEB – Miopatie Nemaline tip 2 (Secvetiere NGS)"},"content":{"rendered":"

Testul permite evaluarea complet\u0103 a genei NEB (Nebulin)<\/strong>, una dintre cele mai mari gene implicate \u00een structura sarcomerului muscular, esen\u021bial\u0103 pentru men\u021binerea func\u021biei normale a fibrei musculare.<\/p>\n

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

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

Despre analiza genei NEB \u2013 miopatie nemalin\u0103 tip 2<\/h3>\n

Gena NEB<\/strong>, localizat\u0103 pe cromozomul 2q23, codific\u0103 proteina nebulin\u0103<\/strong>, o component\u0103 structural\u0103 major\u0103 a sarcomerului, implicat\u0103 \u00een reglarea lungimii filamentelor sub\u021biri de actin\u0103 \u0219i stabilitatea contrac\u021biei musculare.<\/p>\n

Muta\u021biile \u00een gena NEB<\/strong> determin\u0103 alterarea structurii musculare \u0219i formarea de corpi nemalini (nemaline rods)<\/strong> \u00een fibrele musculare, caracteristice bolii.<\/p>\n

Miopatia nemalin\u0103 tip 2 este de obicei o form\u0103 autosomal recesiv\u0103<\/strong>, cu variabilitate clinic\u0103 semnificativ\u0103, de la forme congenitale severe p\u00e2n\u0103 la forme cu evolu\u021bie lent progresiv\u0103.<\/p>\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 patogene \u0219i probabil patogene<\/li>\n
  • variantelor cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n<\/ul>\n

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

    Testul este indicat \u00een:<\/h3>\n
      \n
    • miopatie nemalin\u0103 congenital\u0103 sau infantil\u0103<\/li>\n
    • hipotonie muscular\u0103 neonatal\u0103<\/li>\n
    • sl\u0103biciune muscular\u0103 axial\u0103 \u0219i proximal\u0103<\/li>\n
    • \u00eent\u00e2rziere motorie sever\u0103<\/li>\n
    • dificult\u0103\u021bi de alimenta\u021bie la sugar<\/li>\n
    • insuficien\u021b\u0103 respiratorie de cauz\u0103 neuromuscular\u0103<\/li>\n
    • reflexe osteotendinoase diminuate<\/li>\n
    • deform\u0103ri musculo-scheletale (scolioz\u0103, contracturi)<\/li>\n
    • fatigabilitate muscular\u0103 precoce<\/li>\n
    • suspiciune de boal\u0103 muscular\u0103 congenital\u0103 genetic\u0103<\/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 global\u0103 de dezvoltare<\/li>\n
      • copiilor cu sl\u0103biciune muscular\u0103 congenital\u0103<\/li>\n
      • pacien\u021bilor cu suspiciune de miopatie nemalin\u0103<\/li>\n
      • cazurilor cu insuficien\u021b\u0103 respiratorie neuromuscular\u0103 precoce<\/li>\n
      • familiilor cu istoric de boli musculare ereditare<\/li>\n
      • pacien\u021bilor f\u0103r\u0103 diagnostic dup\u0103 teste genetice ini\u021biale<\/li>\n
      • cazurilor cu recomandare din partea medicului de neurologie pediatric\u0103 sau genetic\u0103 medical\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 NEB<\/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 splice-site<\/li>\n<\/ul>\n<\/li>\n
          • clasificare conform ghidurilor ACMG<\/li>\n
          • interpretare clinic\u0103 \u00een corela\u021bie cu fenotipul neuromuscular<\/li>\n
          • corelare cu baze de date interna\u021bionale pentru boli rare<\/li>\n<\/ul>\n

            Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
              \n
            • permite confirmarea diagnosticului de miopatie nemalin\u0103 tip 2<\/li>\n
            • ajut\u0103 la diferen\u021bierea de alte miopatii congenitale<\/li>\n
            • faciliteaz\u0103 consilierea genetic\u0103 familial\u0103 (autosomal recesiv)<\/li>\n
            • contribuie la stabilirea prognosticului \u0219i la planificarea terapeutic\u0103<\/li>\n
            • sprijin\u0103 managementul multidisciplinar (neurologie, pneumologie, recuperare)<\/li>\n
            • reduce necesitatea investiga\u021biilor invazive repetate<\/li>\n
            • permite identificarea variantelor patogene \u00een cazuri severe neonatale<\/li>\n<\/ul>\n

              Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
                \n
              • gena NEB este una dintre cele mai mari gene umane, ceea ce poate cre\u0219te complexitatea interpret\u0103rii<\/li>\n
              • pot exista variante rare dificil de clasificat (VUS)<\/li>\n
              • unele dele\u021bii\/duplica\u021bii mari pot necesita metode complementare (ex. MLPA)<\/li>\n
              • un rezultat negativ nu exclude complet alte miopatii congenitale genetice<\/li>\n
              • interpretarea necesit\u0103 corelare clinic\u0103 \u0219i histopatologic\u0103 (biopsie muscular\u0103 \u00een unele cazuri)<\/li>\n
              • variabilitate fenotipic\u0103 semnificativ\u0103 de la un pacient la altul<\/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
                      • Panel NGS <\/strong>boli neuromusculare congenitale<\/li>\n
                      • Secven\u021biere gene ACTA1, TPM2, TPM3<\/strong> \u2013 miopatii nemalinice asociate<\/li>\n
                      • Creatinkinaz\u0103 (CK)<\/strong> \u2013 marker muscular<\/li>\n
                      • EMG <\/strong>(electromiografie)<\/li>\n
                      • RMN <\/strong>muscular<\/li>\n
                      • Biopsie muscular\u0103<\/strong> (\u00een cazuri selectate)<\/li>\n
                      • Evaluare respiratorie <\/strong>(spirometrie)<\/li>\n
                      • Consiliere <\/strong>genetic\u0103 familial\u0103<\/li>\n<\/ul>\n

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

                        Miopatia nemalin\u0103 asociat\u0103 genei NEB<\/strong> reprezint\u0103 una dintre cele mai frecvente cauze genetice de miopatie congenital\u0103. Secven\u021bierea NGS este esen\u021bial\u0103 pentru confirmarea diagnosticului, av\u00e2nd \u00een vedere heterogenitatea genetic\u0103 \u0219i fenotipic\u0103 ridicat\u0103, precum \u0219i dificultatea diagnostic\u0103rii exclusiv clinice sau histologice. Identificarea muta\u021biei permite consilierea genetic\u0103 corect\u0103 \u0219i planificarea managementului pe termen lung.<\/p>\n","protected":false},"excerpt":{"rendered":"

                        Analiza genei NEB prin secven\u021biere NGS<\/strong> este un test genetic utilizat pentru identificarea variantelor patogene asociate cu miopatia nemalin\u0103 tip 2 (Nemaline myopathy type 2)<\/strong>, o boal\u0103 neuromuscular\u0103 ereditar\u0103 rar\u0103 caracterizat\u0103 prin sl\u0103biciune muscular\u0103 congenital\u0103 sau cu debut precoce.<\/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-26860","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