{"id":118298,"date":"2026-08-07T15:01:16","date_gmt":"2026-08-07T12:01:16","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/mpv17-secventiere-ngs-boala-charcot-marie-tooth-tip-2ee-mtdps6\/"},"modified":"2026-08-07T15:01:16","modified_gmt":"2026-08-07T12:01:16","slug":"mpv17-secventiere-ngs-boala-charcot-marie-tooth-tip-2ee-mtdps6","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/mpv17-secventiere-ngs-boala-charcot-marie-tooth-tip-2ee-mtdps6\/","title":{"rendered":"MPV17 \u2013 secventiere NGS (Boala Charcot-Marie-Tooth tip 2EE \/ MTDPS6)"},"content":{"rendered":"<h3>Descriere general\u0103<\/h3>\n<p>Gena <strong>MPV17<\/strong> codific\u0103 o protein\u0103 localizat\u0103 \u00een membrana intern\u0103 a mitocondriei, implicat\u0103 \u00een men\u021binerea num\u0103rului normal de copii ale ADN-ului mitocondrial (mtDNA). Defectele acestei gene determin\u0103 alterarea produc\u021biei de energie celular\u0103, afect\u00e2nd \u00een special \u021besuturile cu consum energetic crescut, precum ficatul, sistemul nervos \u0219i musculatura.<\/p>\n<h3>Muta\u021biile patogene ale genei MPV17 sunt asociate \u00een principal cu:<\/h3>\n<ul>\n<li>sindromul de deple\u021bie a ADN-ului mitocondrial, forma hepatocerebral\u0103 (MTDPS6)<\/li>\n<li>neuropatia periferic\u0103 axonal\u0103 de tip Charcot-Marie-Tooth tip 2EE<\/li>\n<\/ul>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<ul>\n<li>insuficien\u021b\u0103 hepatic\u0103 cu debut \u00een copil\u0103rie<\/li>\n<li>boal\u0103 hepatic\u0103 progresiv\u0103<\/li>\n<li>hipoglicemie \u0219i acidoz\u0103 lactic\u0103<\/li>\n<li>\u00eent\u00e2rziere \u00een dezvoltarea psihomotorie<\/li>\n<li>hipotonie muscular\u0103<\/li>\n<li>neuropatie periferic\u0103 axonal\u0103<\/li>\n<li>sl\u0103biciune muscular\u0103 progresiv\u0103<\/li>\n<li>atrofie muscular\u0103 distal\u0103<\/li>\n<li>tulbur\u0103ri de mers<\/li>\n<li>deform\u0103ri ale picioarelor (pes cavus)<\/li>\n<li>reducerea sensibilit\u0103\u021bii periferice<\/li>\n<li>afectare neurologic\u0103 progresiv\u0103<\/li>\n<li>simptome sugestive pentru boal\u0103 mitocondrial\u0103<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>copiilor cu suspiciune de sindrom de deple\u021bie a ADN-ului mitocondrial<\/li>\n<li>pacien\u021bilor cu insuficien\u021b\u0103 hepatic\u0103 de cauz\u0103 necunoscut\u0103<\/li>\n<li>pacien\u021bilor cu neuropatie periferic\u0103 axonal\u0103 precoce<\/li>\n<li>persoanelor cu suspiciune de boal\u0103 Charcot-Marie-Tooth ereditar\u0103<\/li>\n<li>pacien\u021bilor cu manifest\u0103ri sugestive pentru boli mitocondriale<\/li>\n<li>familiilor cu antecedente de boli mitocondriale sau neuropatii ereditare<\/li>\n<li>neurologilor, neuropediatrilor, hepatologilor \u0219i medicilor geneticieni<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>secven\u021biere NGS (Next Generation Sequencing)<\/li>\n<li>analiz\u0103 complet\u0103 a regiunilor codante \u0219i a limitelor exon\u2013intron ale genei <strong>MPV17<\/strong><\/li>\n<li>detec\u021bia variantelor SNV \u0219i INDEL<\/li>\n<li>analiz\u0103 bioinformatic\u0103 avansat\u0103<\/li>\n<li>interpretarea variantelor conform recomand\u0103rilor ACMG<\/li>\n<li>corelare genotip\u2013fenotip clinic<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>confirm\u0103 diagnosticul molecular al afec\u021biunilor asociate genei <strong>MPV17<\/strong><\/li>\n<li>permite diferen\u021bierea bolilor mitocondriale de alte cauze hepatice sau neurologice<\/li>\n<li>faciliteaz\u0103 stabilirea prognosticului \u0219i monitorizarea pacientului<\/li>\n<li>orienteaz\u0103 conduita terapeutic\u0103 \u0219i managementul multidisciplinar<\/li>\n<li>permite consilierea genetic\u0103 a familiei<\/li>\n<li>identific\u0103 purt\u0103torii \u00een familiile afectate<\/li>\n<li>faciliteaz\u0103 screeningul familial (cascade testing)<\/li>\n<li>reduce necesitatea investiga\u021biilor invazive suplimentare<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>testul analizeaz\u0103 exclusiv gena <strong>MPV17<\/strong><\/li>\n<li>nu exclude existen\u021ba altor cauze genetice ale neuropatiilor ereditare sau bolilor mitocondriale<\/li>\n<li>pot fi identificate variante cu semnifica\u021bie clinic\u0103 incert\u0103 (VUS)<\/li>\n<li>interpretarea trebuie corelat\u0103 cu tabloul clinic \u0219i investiga\u021biile paraclinice<\/li>\n<li>\u00een cazurile cu suspiciune clinic\u0103 persistent\u0103 \u0219i rezultat negativ poate fi indicat un panel extins de boli mitocondriale sau secven\u021bierea exomului<\/li>\n<\/ul>\n<h3>Tip de prob\u0103<\/h3>\n<ul>\n<li>s\u00e2nge periferic (EDTA) \u2013 <strong>2 \u00d7 6 ml<\/strong><\/li>\n<\/ul>\n<h3>Recoltare \u0219i condi\u021bii<\/h3>\n<ul>\n<li>recoltare standard \u00een vacutainere EDTA<\/li>\n<li>nu necesit\u0103 post alimentar<\/li>\n<\/ul>\n<h3>Laborator<\/h3>\n<h3>Bioarray \u2013 Spania<\/h3>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Test genetic <strong>MPV17<\/strong><\/li>\n<li>Secven\u021biere NGS <strong>MPV17<\/strong><\/li>\n<li>Analiz\u0103 genetic\u0103 pentru sindromul de deple\u021bie a ADN-ului mitocondrial (MTDPS6)<\/li>\n<li>Test genetic Boala Charcot-Marie-Tooth tip 2EE<\/li>\n<li>Evaluare genetic\u0103 boli mitocondriale asociate genei <strong>MPV17<\/strong><\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li>panel genetic pentru neuropatii ereditare<\/li>\n<li>panel genetic pentru boli mitocondriale<\/li>\n<li>lactat \u0219i piruvat plasmatic<\/li>\n<li>profil metabolic (aminoacizi \u0219i acizi organici)<\/li>\n<li>teste ale func\u021biei hepatice (ALT, AST, bilirubin\u0103, INR)<\/li>\n<li>electromiografie (EMG) \u0219i studii de conducere nervoas\u0103<\/li>\n<li>RMN cerebral (dup\u0103 caz)<\/li>\n<li>consult neurologic<\/li>\n<li>consult hepatologic<\/li>\n<li>consult genetic clinic<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul genetic analizeaz\u0103 gena <strong>MPV17<\/strong> prin tehnologie <strong>NGS (Next Generation Sequencing)<\/strong>, pentru identificarea variantelor patogene asociate cu <strong>Sindromul de deple\u021bie a ADN-ului mitocondrial, forma hepatocerebral\u0103 (MTDPS6)<\/strong> \u0219i cu <strong>Boala Charcot-Marie-Tooth tip 2EE (CMT2EE)<\/strong>. Gena <em>MPV17<\/em> este implicat\u0103 \u00een men\u021binerea integrit\u0103\u021bii ADN-ului mitocondrial \u0219i \u00een func\u021bionarea normal\u0103 a mitocondriilor, av\u00e2nd un rol esen\u021bial \u00een metabolismul energetic celular.<\/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-118298","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","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=\"Testul genetic analizeaz\u0103 gena MPV17 prin tehnologie NGS (Next Generation Sequencing), pentru identificarea variantelor patogene asociate cu Sindromul de deple\u021bie a ADN-ului mitocondrial, forma hepatocerebral\u0103 (MTDPS6) \u0219i cu Boala Charcot-Marie-Tooth tip 2EE (CMT2EE). Gena MPV17 este implicat\u0103 \u00een men\u021binerea integrit\u0103\u021bii ADN-ului mitocondrial \u0219i \u00een func\u021bionarea normal\u0103 a mitocondriilor, av\u00e2nd un rol esen\u021bial \u00een metabolismul energetic celular.\" \/>\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\/mpv17-secventiere-ngs-boala-charcot-marie-tooth-tip-2ee-mtdps6\/\" \/>\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=\"MPV17 \u2013 secventiere NGS (Boala Charcot-Marie-Tooth tip 2EE \/ MTDPS6) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Testul genetic analizeaz\u0103 gena MPV17 prin tehnologie NGS (Next Generation Sequencing), pentru identificarea variantelor patogene asociate cu Sindromul de deple\u021bie a ADN-ului mitocondrial, forma hepatocerebral\u0103 (MTDPS6) \u0219i cu Boala Charcot-Marie-Tooth tip 2EE (CMT2EE). Gena MPV17 este implicat\u0103 \u00een men\u021binerea integrit\u0103\u021bii ADN-ului mitocondrial \u0219i \u00een func\u021bionarea normal\u0103 a mitocondriilor, av\u00e2nd un rol esen\u021bial \u00een metabolismul energetic celular.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/mpv17-secventiere-ngs-boala-charcot-marie-tooth-tip-2ee-mtdps6\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2026-08-07T12:01:16+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-08-07T12:01:16+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"MPV17 \u2013 secventiere NGS (Boala Charcot-Marie-Tooth tip 2EE \/ MTDPS6) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Testul genetic analizeaz\u0103 gena MPV17 prin tehnologie NGS (Next Generation Sequencing), pentru identificarea variantelor patogene asociate cu Sindromul de deple\u021bie a ADN-ului mitocondrial, forma hepatocerebral\u0103 (MTDPS6) \u0219i cu Boala Charcot-Marie-Tooth tip 2EE (CMT2EE). 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