{"id":27692,"date":"2025-06-24T16:49:23","date_gmt":"2025-06-24T13:49:23","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/ataxia-friedreich-gena-fxn-secventiere-ngs-si-cnv\/"},"modified":"2026-06-30T15:54:33","modified_gmt":"2026-06-30T12:54:33","slug":"ataxia-friedreich-gena-fxn-secventiere-ngs-si-cnv","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/ataxia-friedreich-gena-fxn-secventiere-ngs-si-cnv\/","title":{"rendered":"Ataxia Friedreich – gena FXN – secventiere NGS si CNV"},"content":{"rendered":"

Analiza genei FXN prin secven\u021biere NGS + analiz\u0103 CNV<\/strong> este un test genetic complex utilizat pentru identificarea at\u00e2t a expansiunilor GAA, c\u00e2t \u0219i a variantelor punctiforme sau dele\u021biilor\/inser\u021biilor implicate \u00een boal\u0103, oferind o evaluare complet\u0103 a cauzei genetice \u00een ataxia Friedreich.<\/p>\n

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

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

Despre analiza genei FXN \u2013 ataxia Friedreich (NGS + CNV)<\/h3>\n

Gena FXN<\/strong>, localizat\u0103 pe cromozomul 9q21.11, codific\u0103 proteina frataxin\u0103, esen\u021bial\u0103 pentru func\u021bia mitocondrial\u0103 \u0219i metabolismul fierului.<\/p>\n

\u00cen majoritatea cazurilor de ataxie Friedreich (aprox. 96%), boala este cauzat\u0103 de expansiuni GAA bialelice \u00een intronul 1 al genei FXN<\/strong>, care reduc expresia frataxinei \u0219i conduc la disfunc\u021bie mitocondrial\u0103 progresiv\u0103.<\/p>\n

Restul cazurilor (aprox. 4%) sunt determinate de:<\/h3>\n
    \n
  • variante punctiforme patogene (SNV)<\/li>\n
  • inser\u021bii\/dele\u021bii mici<\/li>\n
  • dele\u021bii mari sau CNV la nivelul genei FXN<\/li>\n<\/ul>\n

    Testarea combinat\u0103 NGS + CNV permite identificarea acestor forme complexe, care pot fi omise de testele standard.<\/p>\n

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

    Testul este indicat \u00een evaluarea:<\/h3>\n
      \n
    • ataxiei Friedreich (FRDA)<\/li>\n
    • tulbur\u0103rilor de coordonare progresive (ataxie cerebeloas\u0103)<\/li>\n
    • neuropatiei senzitive progresive<\/li>\n
    • disartriei \u0219i tulbur\u0103rilor de vorbire<\/li>\n
    • cardiomiopatiei hipertrofice de cauz\u0103 genetic\u0103<\/li>\n
    • insuficien\u021bei cardiace la pacientul t\u00e2n\u0103r f\u0103r\u0103 cauz\u0103 evident\u0103<\/li>\n
    • scoliozei progresive asociate simptomelor neurologice<\/li>\n
    • diabetului zaharat asociat ataxiei<\/li>\n
    • pierderii reflexelor osteotendinoase<\/li>\n
    • suspiciunii de boal\u0103 neurodegenerativ\u0103 ereditar\u0103<\/li>\n<\/ul>\n

      Cui se adreseaz\u0103<\/h3>\n
        \n
      • pacien\u021bilor cu suspiciune clinic\u0103 de ataxie Friedreich<\/li>\n
      • pacien\u021bilor cu ataxie progresiv\u0103 de cauz\u0103 necunoscut\u0103<\/li>\n
      • copiilor \u0219i adolescen\u021bilor cu debut precoce al simptomelor neurologice<\/li>\n
      • pacien\u021bilor cu cardiomiopatie hipertrofic\u0103 asociat\u0103 simptomelor neurologice<\/li>\n
      • persoanelor cu istoric familial de ataxie sau boal\u0103 neurodegenerativ\u0103<\/li>\n
      • cazurilor cu rezultate negative la alte paneluri de ataxii ereditare<\/li>\n<\/ul>\n

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

          secven\u021biere NGS a genei FXN<\/h3>\n

          analiz\u0103 bioinformatic\u0103 pentru detectarea:<\/h3>\n
            \n
          • SNV (muta\u021bii punctiforme)<\/li>\n
          • INDEL (micile inser\u021bii\/dele\u021bii)<\/li>\n
          • analiz\u0103 CNV (Copy Number Variation)<\/strong> pentru dele\u021bii\/duplica\u021bii la nivelul genei<\/li>\n
          • detec\u021bia variantelor patogene sau probabil patogene<\/li>\n
          • corelare fenotip\u2013genotip \u00een context neurologic \u0219i cardiac<\/li>\n
          • interpretare conform ghidurilor ACMG<\/li>\n<\/ul>\n

            Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
              \n
            • permite diagnosticul molecular complet al ataxiei Friedreich<\/li>\n
            • identific\u0103 at\u00e2t expansiunile GAA, c\u00e2t \u0219i muta\u021biile rare ale genei FXN<\/li>\n
            • cre\u0219te rata de diagnostic \u00een formele atipice sau non-clasice<\/li>\n
            • ajut\u0103 la diferen\u021bierea de alte ataxii ereditare<\/li>\n
            • permite consilierea genetic\u0103 familial\u0103 \u0219i testarea rudelor<\/li>\n
            • contribuie la prognostic (corela\u021bie genotip\u2013severitate)<\/li>\n
            • sus\u021bine managementul multidisciplinar (neurologie + cardiologie)<\/li>\n<\/ul>\n

              Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
                \n
              • expansiunile GAA pot necesita metode specifice dedicate (\u00een func\u021bie de platform\u0103)<\/li>\n
              • unele variante structurale complexe pot necesita confirmare suplimentar\u0103<\/li>\n
              • nu toate metodele NGS standard detecteaz\u0103 eficient expansiunile repetate<\/li>\n
              • pot exista variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n
              • rezultatul trebuie interpretat strict \u00een context clinic \u0219i familial<\/li>\n
              • un rezultat negativ nu exclude complet alte cauze de ataxie ereditar\u0103<\/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
                    • completarea formularului de consim\u021b\u0103m\u00e2nt informat \u0219i a fi\u0219ei clinice<\/li>\n
                    • nu necesit\u0103 preg\u0103tire special\u0103 a pacientului<\/li>\n<\/ul>\n

                      Analize asociate recomandate<\/h3>\n
                        \n
                      • Test specific expansiune GAA FXN<\/strong> \u2013 confirmare rapid\u0103 a formei clasice<\/li>\n
                      • Panel NGS ataxii ereditare<\/strong> \u2013 diagnostic diferen\u021bial extins<\/li>\n
                      • Ecocardiografie \/ RMN cardiac<\/strong> \u2013 evaluarea cardiomiopatiei<\/li>\n
                      • EMG \/ studii de conducere nervoas\u0103<\/strong> \u2013 evaluarea neuropatiei<\/li>\n
                      • Panel mitocondrial<\/strong> \u2013 diferen\u021biere fa\u021b\u0103 de boli mitocondriale<\/li>\n
                      • Test genetic familial FXN<\/strong> \u2013 screening rude grad I<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                        Test genetic care analizeaz\u0103 gena FXN, implicat\u0103 \u00een ataxia Friedreich \u2013 o boal\u0103 ereditar\u0103 rar\u0103 caracterizat\u0103 prin tulbur\u0103ri de coordonare a mi\u0219c\u0103rilor (ataxie), sl\u0103biciune muscular\u0103 \u0219i afectare neurologic\u0103 progresiv\u0103. Detecteaz\u0103 muta\u021bii punctiforme \u0219i modific\u0103ri de num\u0103r de copii (CNV) prin secven\u021biere de nou\u0103 genera\u021bie (NGS).<\/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-27692","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