{"id":27375,"date":"2025-06-24T15:57:39","date_gmt":"2025-06-24T12:57:39","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-ataxie-analiza-expansiunilor-repetitive-ataxia-repeat-expansion-panel\/"},"modified":"2026-10-21T19:40:04","modified_gmt":"2026-10-21T16:40:04","slug":"panel-genetic-ataxie-analiza-expansiunilor-repetitive-ataxia-repeat-expansion-panel","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-ataxie-analiza-expansiunilor-repetitive-ataxia-repeat-expansion-panel\/","title":{"rendered":"Panel genetic Ataxie &#8211; analiza expansiunilor repetitive &#8211; Ataxia repeat expansion panel"},"content":{"rendered":"<p>Ataxiile ereditare cauzate de expansiuni repetitive reprezint\u0103 un grup de boli neurodegenerative caracterizate prin degenerarea progresiv\u0103 a cerebelului \u0219i a conexiunilor sale, duc\u00e2nd la tulbur\u0103ri de coordonare, echilibru \u0219i mers.<\/p>\n<p>Aceste afec\u021biuni sunt determinate de expansiunea anormal\u0103 a secven\u021belor repetitive de nucleotide (ex. CAG, GAA, CTG) \u00een gene specifice, ceea ce duce la toxicitate proteic\u0103, disfunc\u021bie neuronal\u0103 \u0219i moarte celular\u0103 progresiv\u0103.<\/p>\n<h3>Panelul include gene implicate \u00een:<\/h3>\n<ul>\n<li>ataxii spinocerebeloase autosomal dominante (SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 etc.)<\/li>\n<li>ataxia Friedreich (FXN \u2013 expansiune GAA)<\/li>\n<li>ataxii \u0219i tulbur\u0103ri neurodegenerative asociate cu instabilitate genomic\u0103<\/li>\n<li>afectare cerebeloas\u0103 progresiv\u0103 \u0219i degenerare sistem nervos central<\/li>\n<\/ul>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<ul>\n<li>ataxie progresiv\u0103 (instabilitate la mers)<\/li>\n<li>tulbur\u0103ri de coordonare fin\u0103 (disgrafie, dismetrie)<\/li>\n<li>tremor inten\u021bional<\/li>\n<li>disartrie (vorbire neclar\u0103)<\/li>\n<li>nistagmus<\/li>\n<li>spasticitate sau hipotonie<\/li>\n<li>neuropatie periferic\u0103<\/li>\n<li>afectare cognitiv\u0103 progresiv\u0103<\/li>\n<li>disfagie<\/li>\n<li>simptome oculomotorii<\/li>\n<li>debut familial al simptomelor neurologice progresive<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor cu ataxie progresiv\u0103 de cauz\u0103 necunoscut\u0103<\/li>\n<li>persoanelor cu istoric familial de ataxie sau boli neurodegenerative<\/li>\n<li>pacien\u021bilor cu suspiciune de ataxie spinocerebeloas\u0103 ereditar\u0103<\/li>\n<li>cazurilor cu debut adult sau juvenil de tulbur\u0103ri de coordonare<\/li>\n<li>neurologilor care doresc confirmarea etiologiei genetice<\/li>\n<li>familiilor care necesit\u0103 consiliere genetic\u0103 \u0219i evaluare a riscului de transmitere<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>analiz\u0103 specific\u0103 pentru expansiuni de repeti\u021bii (repeat expansion testing)<\/li>\n<li>tehnici PCR fragment analysis \u0219i\/sau triplet-primed PCR<\/li>\n<li>detectarea expansiunilor patologice \u00een genele \u021bint\u0103<\/li>\n<li>analiz\u0103 complementar\u0103 molecular\u0103 \u0219i bioinformatic\u0103<\/li>\n<li>interpretare conform ghidurilor interna\u021bionale pentru ataxii ereditare<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>identific\u0103 una dintre cele mai frecvente cauze genetice de ataxie<\/li>\n<li>permite diagnostic precoce \u00een forme degenerative progresive<\/li>\n<li>diferen\u021biaz\u0103 ataxiile genetice de cele dob\u00e2ndite (toxice, autoimune, metabolice)<\/li>\n<li>ajut\u0103 la consilierea genetic\u0103 familial\u0103 \u0219i evaluarea riscului de transmitere<\/li>\n<li>sus\u021bine planificarea monitoriz\u0103rii neurologice pe termen lung<\/li>\n<li>faciliteaz\u0103 includerea \u00een programe de management \u0219i studii clinice<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>detecteaz\u0103 exclusiv expansiuni de repeti\u021bii \u00een genele incluse<\/li>\n<li>nu identific\u0103 alte tipuri de muta\u021bii (punctiforme, dele\u021bii mici)<\/li>\n<li>pot exista rezultate borderline ce necesit\u0103 corelare clinic\u0103<\/li>\n<li>interpretarea depinde de contextul neurologic \u0219i familial<\/li>\n<li>nu exclude complet alte forme genetice de ataxie neincluse \u00een panel<\/li>\n<\/ul>\n<h3>Tip de prob\u0103<\/h3>\n<ul>\n<li>s\u00e2nge periferic (EDTA) &#8211; 2 \u00d7 6 ml<\/li>\n<\/ul>\n<h3>Recoltare \u0219i condi\u021bii<\/h3>\n<ul>\n<li>recoltare standard \u00een vacutainer EDTA<\/li>\n<li>nu necesit\u0103 condi\u021bii de post alimentar<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Panel genetic ataxii spinocerebeloase (SCA)<\/li>\n<li>Test expansiuni repetitive ataxie ereditar\u0103<\/li>\n<li>Screening genetic ataxii neurodegenerative<\/li>\n<li>Panel ataxie Friedreich \u0219i ataxii spinocerebeloase<\/li>\n<li>Test genetic repeat expansion boli neurologice<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li>IRM cerebral (cu accent pe cerebel \u0219i trunchi cerebral)<\/li>\n<li>examinare neurologic\u0103 complet\u0103<\/li>\n<li>electromiografie (EMG)<\/li>\n<li>teste metabolice pentru excluderea cauzelor secundare<\/li>\n<li>evaluare oftalmologic\u0103 (nistagmus, oftalmoplegie)<\/li>\n<li>consiliere genetic\u0103 pre \u0219i post testare<\/li>\n<li>evaluare familial\u0103 neurologic\u0103 pentru cazuri ereditare<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panelul analizeaz\u0103 expansiuni de repeti\u021bii nucleotidice (repeat expansions) \u00een genele asociate cu forme ereditare de ataxie spinocerebeloas\u0103 \u0219i alte sindroame neurodegenerative. Aceste muta\u021bii dinamice reprezint\u0103 una dintre cele mai frecvente cauze genetice de ataxie progresiv\u0103 la adult \u0219i pot determina degenerare cerebeloas\u0103, afectare neurologic\u0103 multisistemic\u0103 \u0219i evolu\u021bie progresiv\u0103.<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<p>ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP<\/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-27375","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=\"Panelul analizeaz\u0103 expansiuni de repeti\u021bii nucleotidice (repeat expansions) \u00een genele asociate cu forme ereditare de ataxie spinocerebeloas\u0103 \u0219i alte sindroame neurodegenerative. Aceste muta\u021bii dinamice reprezint\u0103 una dintre cele mai frecvente cauze genetice de ataxie progresiv\u0103 la adult \u0219i pot determina degenerare cerebeloas\u0103, afectare neurologic\u0103 multisistemic\u0103 \u0219i evolu\u021bie progresiv\u0103. Gene analizate ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP\" \/>\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\/panel-genetic-ataxie-analiza-expansiunilor-repetitive-ataxia-repeat-expansion-panel\/\" \/>\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=\"Panel genetic Ataxie \u2013 analiza expansiunilor repetitive \u2013 Ataxia repeat expansion panel - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Panelul analizeaz\u0103 expansiuni de repeti\u021bii nucleotidice (repeat expansions) \u00een genele asociate cu forme ereditare de ataxie spinocerebeloas\u0103 \u0219i alte sindroame neurodegenerative. Aceste muta\u021bii dinamice reprezint\u0103 una dintre cele mai frecvente cauze genetice de ataxie progresiv\u0103 la adult \u0219i pot determina degenerare cerebeloas\u0103, afectare neurologic\u0103 multisistemic\u0103 \u0219i evolu\u021bie progresiv\u0103. Gene analizate ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-ataxie-analiza-expansiunilor-repetitive-ataxia-repeat-expansion-panel\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:57:39+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-10-21T16:40:04+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Panel genetic Ataxie \u2013 analiza expansiunilor repetitive \u2013 Ataxia repeat expansion panel - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Panelul analizeaz\u0103 expansiuni de repeti\u021bii nucleotidice (repeat expansions) \u00een genele asociate cu forme ereditare de ataxie spinocerebeloas\u0103 \u0219i alte sindroame neurodegenerative. Aceste muta\u021bii dinamice reprezint\u0103 una dintre cele mai frecvente cauze genetice de ataxie progresiv\u0103 la adult \u0219i pot determina degenerare cerebeloas\u0103, afectare neurologic\u0103 multisistemic\u0103 \u0219i evolu\u021bie progresiv\u0103. 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