{"id":27020,"date":"2025-06-24T14:37:34","date_gmt":"2025-06-24T12:37:34","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/sindrom-x-fragil-testare-numar-repetitii-cgg-in-gena-fmr1\/"},"modified":"2026-02-27T17:56:04","modified_gmt":"2026-02-27T15:56:04","slug":"sindrom-x-fragil-testare-numar-repetitii-cgg-in-gena-fmr1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/sindrom-x-fragil-testare-numar-repetitii-cgg-in-gena-fmr1\/","title":{"rendered":"Sindrom X fragil (testare numar repetitii CGG in gena FMR1)"},"content":{"rendered":"<p><strong>Sindromul X fragil<\/strong> este o boal\u0103 genetic\u0103 legat\u0103 de cromozomul X, cauzat\u0103 de expansiunea repeti\u021biilor CGG \u00een regiunea 5\u2019 UTR a genei FMR1. Aceast\u0103 expansiune duce la silen\u021bierea genei \u0219i deficitul proteinei FMRP, esen\u021bial\u0103 pentru dezvoltarea normal\u0103 a creierului.<\/p>\n<\/p>\n<p>Testul permite identificarea alelelor normale, premutante \u0219i pline (full mutation), cu implica\u021bii \u00een diagnostic, consiliere genetic\u0103 \u0219i planificare familial\u0103.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>deficit intelectual de grad variabil<\/li>\n<li>tulbur\u0103ri de comportament \u0219i de dezvoltare (ex. autism, anxietate)<\/li>\n<li>macrocefalie \u0219i caracteristici faciale specifice (ex. mandibul\u0103 proeminent\u0103)<\/li>\n<li>tulbur\u0103ri de reproducere la purt\u0103toarele premutante (ex. insuficien\u021b\u0103 ovarian\u0103 prematur\u0103)<\/li>\n<li>riscul de sindrom tremor\/ataxie la adul\u021bi cu premuta\u021bie FMR1<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bi cu deficien\u021b\u0103 intelectual\u0103 sau tulbur\u0103ri de dezvoltare f\u0103r\u0103 diagnostic etiologic<\/li>\n<li>femei cu istoric de insuficien\u021b\u0103 ovarian\u0103 prematur\u0103<\/li>\n<li>persoane cu antecedente familiale de sindrom X fragil<\/li>\n<li>cupluri care doresc consiliere genetic\u0103 \u00eenainte de sarcin\u0103<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>analiza se realizeaz\u0103 prin PCR \u0219i Southern blot, pentru a determina exact num\u0103rul de repeti\u021bii CGG \u0219i metilarea asociat\u0103<\/li>\n<li>expansiunea este clasificat\u0103 conform standardelor:\n<ul>\n<li>normal: 5\u201344 repeti\u021bii    <\/li>\n<li>intermediate: 45\u201354 repeti\u021bii<\/li>\n<li>premuta\u021bie: 55\u2013200 repeti\u021bii<\/li>\n<li>full mutation: &gt;200 repeti\u021bii<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>permite diagnostic precis al sindromului X fragil \u0219i al st\u0103rilor premutante<\/li>\n<li>ajut\u0103 la consilierea genetic\u0103 familial\u0103 \u0219i planificarea sarcinii<\/li>\n<li>permite identificarea persoanelor cu risc de tulbur\u0103ri neurodegenerative asociate premuta\u021biei<\/li>\n<li>contribuie la monitorizarea \u0219i gestionarea riscului de insuficien\u021b\u0103 ovarian\u0103 prematur\u0103 la femei<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>nu detecteaz\u0103 alte muta\u021bii sau dele\u021bii \u00een gena FMR1<\/li>\n<li>rezultatele trebuie interpretate \u00een context clinic \u0219i familial<\/li>\n<li>testarea nu ofer\u0103 informa\u021bii despre severitatea exact\u0103 a simptomelor<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>consiliere genetic\u0103 familial\u0103 pentru purt\u0103tori de premuta\u021bie<\/li>\n<li>screening pentru insuficien\u021b\u0103 ovarian\u0103 prematur\u0103 la femeile purt\u0103toare<\/li>\n<li>testarea partenerilor \u0219i altor membri ai familiei pentru extinderea premuta\u021biilor<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul determin\u0103 num\u0103rul de repeti\u021bii CGG din gena FMR1, responsabil\u0103 de sindromul X fragil, cea mai frecvent\u0103 cauz\u0103 genetic\u0103 de deficien\u021b\u0103 intelectual\u0103 ereditar\u0103 \u0219i tulbur\u0103ri de dezvoltare.<\/p>\n<\/p>\n<p><strong>Gen\u0103 analizat\u0103:<\/strong> FMR1 (Fragile X Mental Retardation 1)<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3167,2876],"product_tag":[],"class_list":["post-27020","product","type-product","status-publish","product_cat-analize","product_cat-fertilitate-infertilitate-fiv","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=\"Testul determin\u0103 num\u0103rul de repeti\u021bii CGG din gena FMR1, responsabil\u0103 de sindromul X fragil, cea mai frecvent\u0103 cauz\u0103 genetic\u0103 de deficien\u021b\u0103 intelectual\u0103 ereditar\u0103 \u0219i tulbur\u0103ri de dezvoltare.Gen\u0103 analizat\u0103: FMR1 (Fragile X Mental Retardation 1)\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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