{"id":26946,"date":"2025-06-24T15:33:05","date_gmt":"2025-06-24T12:33:05","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/analiza-adn-mitocondrial-secventiere-ngs-a-genomului-mitocondrial-centomito-genome\/"},"modified":"2026-06-30T16:02:44","modified_gmt":"2026-06-30T13:02:44","slug":"analiza-adn-mitocondrial-secventiere-ngs-a-genomului-mitocondrial-centomito-genome","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-adn-mitocondrial-secventiere-ngs-a-genomului-mitocondrial-centomito-genome\/","title":{"rendered":"Analiza ADN mitocondrial &#8211; secventiere NGS a genomului mitocondrial &#8211; CentoMito Genome"},"content":{"rendered":"<p>Analiza este utilizat\u0103 \u00een evaluarea bolilor genetice rare \u0219i a afec\u021biunilor neurodegenerative, fiind indicat\u0103 \u00een special \u00een cazurile cu suspiciune de boli mitocondriale multisistemice.<\/p>\n<h3>Descriere general\u0103<\/h3>\n<h3>Termen de execu\u021bie*<\/h3>\n<p>45 zile lucr\u0103toare (\u00een func\u021bie de configura\u021bia testului \u0219i complexitatea cazului)<\/p>\n<h3>Despre CentoMito Genome \u2013 secven\u021biere mtDNA (NGS)<\/h3>\n<p>CentoMito Genome este o analiz\u0103 care investigheaz\u0103 <strong>\u00eentregul genom mitocondrial (~16,6 kb)<\/strong>, responsabil de func\u021bionarea lan\u021bului respirator \u0219i produc\u021bia de energie celular\u0103 (ATP).<\/p>\n<p>Testul utilizeaz\u0103 tehnologie NGS cu acoperire ridicat\u0103 \u0219i permite evaluarea complet\u0103 a variantelor mitocondriale, incluz\u00e2nd:<\/p>\n<ul>\n<li>muta\u021bii punctiforme (SNV)<\/li>\n<li>dele\u021bii \u0219i inser\u021bii mitocondriale<\/li>\n<li>variante heteroplasmice (propor\u021bia ADN-ului mutant fa\u021b\u0103 de ADN-ul normal)<\/li>\n<li>variante homoplasmice<\/li>\n<li>regiuni codante ale genelor mitocondriale implicate \u00een complexele respiratorii I\u2013V<\/li>\n<\/ul>\n<p>CentoMito Genome face parte dintr-un portofoliu de solu\u021bii pentru diagnostic genomic extins, fiind integrat \u00eentr-o platform\u0103 de analiz\u0103 genomic\u0103 drept test specializat pentru evaluarea genomului mitocondrial, cu interpretare clinic\u0103 bazat\u0103 pe date fenotipice \u0219i pe baze de date dedicate bolilor rare \u0219i afec\u021biunilor genetice.<\/p>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<h3>Testul este indicat \u00een evaluarea cauzelor genetice pentru:<\/h3>\n<ul>\n<li>boli mitocondriale primare<\/li>\n<li>encefalopatii mitocondriale<\/li>\n<li>miopatii mitocondriale<\/li>\n<li>neuropatii periferice de cauz\u0103 genetic\u0103<\/li>\n<li>epilepsii farmacorezistente<\/li>\n<li>atrofie optic\u0103 ereditar\u0103<\/li>\n<li>sindroame neurodegenerative precoce<\/li>\n<li>acidoz\u0103 lactic\u0103 persistent\u0103<\/li>\n<li>fatigabilitate sever\u0103 de cauz\u0103 necunoscut\u0103<\/li>\n<li>afectare multisistemic\u0103 (neurologic\u0103, muscular\u0103, cardiac\u0103 \u0219i metabolic\u0103)<\/li>\n<li>suspiciune de transmitere matern\u0103 a unei boli genetice<\/li>\n<li>cazuri nediagnosticate prin WES\/WGS sau paneluri genetice<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor cu suspiciune clinic\u0103 de boal\u0103 mitocondrial\u0103<\/li>\n<li>copiilor cu \u00eent\u00e2rziere de dezvoltare \u0219i afectare neuromuscular\u0103<\/li>\n<li>adul\u021bilor cu simptome multisistemice inexplicabile<\/li>\n<li>pacien\u021bilor cu epilepsii sau neuropatii f\u0103r\u0103 etiologie clar\u0103<\/li>\n<li>cazurilor cu istoric familial sugestiv de transmitere matern\u0103<\/li>\n<li>pacien\u021bilor cu rezultate negative la investiga\u021biile genetice bazate pe ADN nuclear (WES\/WGS)<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>extrac\u021bie AND-ului din s\u00e2nge periferic recoltat pe EDTA<\/li>\n<li>amplificarea \u0219i secven\u021bierea complet\u0103 a genomului mitocondrial<\/li>\n<li>tehnologie NGS cu acoperire ridicat\u0103 a mtDNA<\/li>\n<li>analiz\u0103 a celor 37 de gene mitocondriale<\/li>\n<li>detectarea variantelor SNV \u0219i INDEL<\/li>\n<li>cuantificarea heteroplasmiei (propor\u021bia ADN-ului mitocondrial mutant fa\u021b\u0103 de ADN-ul mitocondrial normal)<\/li>\n<li>analiz\u0103 bioinformatic\u0103 avansat\u0103 \u0219i interpretare clinic\u0103<\/li>\n<li>corelare fenotip\u2013genotip pentru clasificarea variantelor<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>analiz\u0103 complet\u0103 a genomului mitocondrial \u00eentr-un singur test<\/li>\n<li>detecteaz\u0103 muta\u021bii rare \u0219i heteroplasmii cu impact clinic<\/li>\n<li>ajut\u0103 la confirmarea diagnosticului de boal\u0103 mitocondrial\u0103<\/li>\n<li>permite diferen\u021bierea \u00eentre cauzele mitocondriale \u0219i non-mitocondriale<\/li>\n<li>sprijin\u0103 diagnosticul \u00een cazuri multisistemice complexe<\/li>\n<li>contribuie la consilierea genetic\u0103 familial\u0103 pe linie matern\u0103<\/li>\n<li>poate ghida managementul metabolic \u0219i terapeutic al pacientului<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>analizeaz\u0103 exclusiv ADN-ul mitocondrial (nu \u0219i AND-ul nuclear)<\/li>\n<li>unele dele\u021bii mari sau rearanjamente complexe pot necesita metode complementare<\/li>\n<li>interpretarea depinde de gradul de heteroplasmie \u0219i contextul clinic<\/li>\n<li>pot exista variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n<li>nu detecteaz\u0103 cauze non-mitocondriale ale simptomelor similare<\/li>\n<li>necesit\u0103 corelare clinic\u0103 \u0219i metabolic\u0103 pentru interpretare complet\u0103<\/li>\n<\/ul>\n<h3>Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n<h3>Prob\u0103 necesar\u0103:<\/h3>\n<ul>\n<li>s\u00e2nge integral EDTA (2 x 6 ml)<\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>recoltare prin punc\u021bie venoas\u0103 \u00een vacutainere cu EDTA<\/li>\n<li>transport \u00een condi\u021bii controlate conform protocolului laboratorului<\/li>\n<li>recomandat\u0103 completarea datelor clinice detaliate<\/li>\n<li>nu necesit\u0103 preg\u0103tire special\u0103 a pacientului<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li><strong>WES (Whole Exome Sequencing)<\/strong> \u2013 pentru excluderea cauzelor nucleare<\/li>\n<li><strong>WGS (Whole Genome Sequencing)<\/strong> \u2013 evaluare genomic\u0103 complet\u0103<\/li>\n<li><strong>Panel NGS boli neuromusculare<\/strong> \u2013 pentru fenotipuri specifice<\/li>\n<li><strong>Lactat, piruvat, CPK<\/strong> \u2013 evaluare metabolic\u0103 func\u021bional\u0103<\/li>\n<li><strong>Biopsie muscular\u0103<\/strong> \u2013 \u00een cazuri selectate pentru confirmare histologic\u0103<\/li>\n<li><strong>RMN cerebral \u0219i muscular<\/strong> \u2013 evaluarea afect\u0103rii structurale<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiza CentoMito Genome este o evaluare genetic\u0103 avansat\u0103 bazat\u0103 pe secven\u021biere de nou\u0103 genera\u021bie (NGS), destinat\u0103 analiz\u0103rii complete a genomului mitocondrial uman. Testul permite identificarea variantelor patogene \u0219i a heteroplasmiilor implicate \u00een bolile mitocondriale, oferind o caracterizare genetic\u0103 detaliat\u0103 a ADN-ului mitocondrial (mtDNA) \u00eentr-un context clinic integrat.<\/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-26946","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<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiza CentoMito Genome este o evaluare genetic\u0103 avansat\u0103 bazat\u0103 pe secven\u021biere de nou\u0103 genera\u021bie (NGS), destinat\u0103 analiz\u0103rii complete a genomului mitocondrial uman. Testul permite identificarea variantelor patogene \u0219i a heteroplasmiilor implicate \u00een bolile mitocondriale, oferind o caracterizare genetic\u0103 detaliat\u0103 a ADN-ului mitocondrial (mtDNA) \u00eentr-un context clinic integrat.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-adn-mitocondrial-secventiere-ngs-a-genomului-mitocondrial-centomito-genome\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Analiza ADN mitocondrial \u2013 secventiere NGS a genomului mitocondrial \u2013 CentoMito Genome - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Analiza CentoMito Genome este o evaluare genetic\u0103 avansat\u0103 bazat\u0103 pe secven\u021biere de nou\u0103 genera\u021bie (NGS), destinat\u0103 analiz\u0103rii complete a genomului mitocondrial uman. Testul permite identificarea variantelor patogene \u0219i a heteroplasmiilor implicate \u00een bolile mitocondriale, oferind o caracterizare genetic\u0103 detaliat\u0103 a ADN-ului mitocondrial (mtDNA) \u00eentr-un context clinic integrat.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-adn-mitocondrial-secventiere-ngs-a-genomului-mitocondrial-centomito-genome\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:33:05+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-06-30T13:02:44+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Analiza ADN mitocondrial \u2013 secventiere NGS a genomului mitocondrial \u2013 CentoMito Genome - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Analiza CentoMito Genome este o evaluare genetic\u0103 avansat\u0103 bazat\u0103 pe secven\u021biere de nou\u0103 genera\u021bie (NGS), destinat\u0103 analiz\u0103rii complete a genomului mitocondrial uman. 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