{"id":27744,"date":"2025-06-24T16:51:59","date_gmt":"2025-06-24T13:51:59","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/adn-mitocondrial-secventiere\/"},"modified":"2026-06-26T20:00:11","modified_gmt":"2026-06-26T17:00:11","slug":"adn-mitocondrial-secventiere","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/adn-mitocondrial-secventiere\/","title":{"rendered":"ADN mitocondrial secventiere"},"content":{"rendered":"

Analiza permite detectarea muta\u021biilor punctiforme, a dele\u021biilor \u0219i variantelor heteroplasmice implicate \u00een disfunc\u021bia lan\u021bului respirator mitocondrial.<\/p>\n

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

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

Despre ADN mitocondrial \u2013 secven\u021biere <\/strong><\/p>\n

ADN-ul mitocondrial (mtDNA) este un genom circular distinct de ADN-ul nuclear, mo\u0219tenit aproape exclusiv pe linie matern\u0103 \u0219i implicat direct \u00een produc\u021bia de energie celular\u0103 (ATP) prin fosforilare oxidativ\u0103.<\/p>\n

Testul de secven\u021biere mtDNA realizeaz\u0103 analiza complet\u0103 a genomului mitocondrial (aprox. 16.569 pb), incluz\u00e2nd genele implicate \u00een complexele respiratorii I\u2013V, ARN-urile de transfer \u0219i ARN-urile ribozomale mitocondriale.<\/p>\n

Prin tehnologia NGS pot fi identificate at\u00e2t variantele patogene, c\u00e2t \u0219i gradul de heteroplasmie, parametru esen\u021bial pentru severitatea \u0219i expresia clinic\u0103 a bolilor mitocondriale.<\/p>\n

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

Testul este indicat \u00een investigarea cauzelor genetice pentru:<\/h3>\n
    \n
  • encefalopatii mitocondriale<\/li>\n
  • miopatii \u0219i fatigabilitate muscular\u0103 sever\u0103<\/li>\n
  • neuropatii periferice de cauz\u0103 genetic\u0103<\/li>\n
  • atrofie optic\u0103 \u0219i tulbur\u0103ri de vedere de etiologie mitocondrial\u0103<\/li>\n
  • epilepsii farmacorezistente<\/li>\n
  • tulbur\u0103ri neurodegenerative cu debut precoce<\/li>\n
  • sindroame metabolice ereditare<\/li>\n
  • acidoz\u0103 lactic\u0103 persistent\u0103<\/li>\n
  • afectare multisistemic\u0103 inexplicabil\u0103 (neurologic\u0103, muscular\u0103 \u0219i cardiac\u0103)<\/li>\n
  • suspiciune de boal\u0103 mitocondrial\u0103 primar\u0103<\/li>\n
  • cazuri r\u0103mase f\u0103r\u0103 diagnostic dup\u0103 efectuarea testelor genetice standard (WES, WGS sau paneluri NGS)<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103<\/h3>\n
      \n
    • pacien\u021bilor cu suspiciune de boal\u0103 mitocondrial\u0103<\/li>\n
    • copiilor cu \u00eent\u00e2rziere de dezvoltare \u0219i afectare neuromuscular\u0103<\/li>\n
    • adul\u021bilor cu fatigabilitate sever\u0103 \u0219i simptome multisistemice<\/li>\n
    • pacien\u021bilor cu epilepsii sau neuropatii f\u0103r\u0103 cauz\u0103 clar\u0103<\/li>\n
    • cazurilor clinice complexe, nerezolvate prin testare genetic\u0103 standard<\/li>\n
    • familiilor cu istoric sugestiv de transmitere matern\u0103<\/li>\n<\/ul>\n

      Metodologie de testare<\/h3>\n
        \n
      • extrac\u021bia ADN-ului din s\u00e2nge periferic recoltat pe EDTA<\/li>\n
      • amplificare \u0219i secven\u021biere complet\u0103 a genomului mitocondrial (~16.5 kb)<\/li>\n
      • tehnologie NGS (Next Generation Sequencing)<\/li>\n
      • acoperirea complet\u0103 a genelor mitocondriale (MT-ND1\u20136, MT-CO1\u20133, MT-CYB, MT-ATP6\/8 etc.)<\/li>\n
      • detectarea variantelor punctiforme (SNV – Single Nucleotide Variants)<\/li>\n
      • identificarea dele\u021biilor \u0219i inser\u021biilor mitocondriale<\/li>\n
      • evaluarea heteroplasmiei (propor\u021bia ADN mutant\/normal)<\/li>\n
      • analiz\u0103 bioinformatic\u0103 \u0219i interpretare clinic\u0103 specializat\u0103<\/li>\n<\/ul>\n

        Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
          \n
        • analiz\u0103 complet\u0103 a genomului mitocondrial<\/li>\n
        • identificarea cauzelor genetice ale bolilor mitocondriale primare<\/li>\n
        • detectarea variantelor heteroplasmice cu impact clinic<\/li>\n
        • ajut\u0103 la diferen\u021bierea dintre bolile mitocondriale \u0219i alte cauze neuromusculare<\/li>\n
        • contribuie la diagnosticul etiologic \u00een cazuri multisistemice complexe<\/li>\n
        • permite consilierea genetic\u0103 familial\u0103 pe linie matern\u0103<\/li>\n
        • poate ghida managementul metabolic \u0219i monitorizarea pacientului<\/li>\n<\/ul>\n

          Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
            \n
          • analizeaz\u0103 exclusiv ADN-ul mitocondrial, nu ADN-ul nuclear<\/li>\n
          • unele dele\u021bii mari sau rearanjamente complexe pot necesita metode suplimentare<\/li>\n
          • interpretarea variantelor depinde de gradul de heteroplasmie \u0219i de contextul clinic<\/li>\n
          • pot exista variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n
          • nu acoper\u0103 cauzele non-mitocondriale ale simptomelor similare<\/li>\n
          • necesit\u0103 corelare strict\u0103 cu date clinice \u0219i investiga\u021bii metabolice<\/li>\n<\/ul>\n

            Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n

            Prob\u0103 necesar\u0103:<\/strong> s\u00e2nge integral recoltat pe EDTA \u2013 2 \u00d7 6 ml<\/p>\n

            Condi\u021bii de recoltare:<\/h3>\n
              \n
            • recoltare prin punc\u021bie venoas\u0103 \u00een vacutainere cu EDTA<\/li>\n
            • transport conform protocolului laboratorului<\/li>\n
            • formular de consim\u021b\u0103m\u00e2nt \u0219i fi\u0219\u0103 clinic\u0103 obligatorii<\/li>\n
            • f\u0103r\u0103 preg\u0103tire special\u0103 a pacientului<\/li>\n<\/ul>\n

              Analize asociate recomandate<\/h3>\n
                \n
              • WES (Whole Exome Sequencing)<\/strong> \u2013 pentru excluderea cauzelor nucleare<\/li>\n
              • WGS (Whole Genome Sequencing)<\/strong> \u2013 evaluare genomic\u0103 complet\u0103<\/li>\n
              • panel NGS pentru boli neuromusculare<\/strong> \u2013 pentru fenotipuri specifice<\/li>\n
              • teste metabolice (lactat, piruvat, CPK)<\/strong> \u2013 evaluare func\u021bional\u0103<\/li>\n
              • biopsie muscular\u0103 (\u00een cazuri selectate)<\/strong> \u2013 confirmare histologic\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

                ADN mitocondrial \u2013 secven\u021biere (mtDNA)<\/strong> este o analiz\u0103 genetic\u0103 avansat\u0103 bazat\u0103 pe tehnologia NGS (Next Generation Sequencing), utilizat\u0103 pentru identificarea variantelor patogene din genomul mitocondrial uman. Testul exploreaz\u0103 \u00eentregul ADN mitocondrial \u0219i este esen\u021bial \u00een diagnosticul bolilor mitocondriale, afec\u021biuni cu afectare multisistemic\u0103, \u00een special neurologic\u0103, muscular\u0103 \u0219i metabolic\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-27744","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