{"id":26579,"date":"2025-06-24T15:09:56","date_gmt":"2025-06-24T12:09:56","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/detectie-mutatie-gjb2-35delg-surditate-genetica\/"},"modified":"2026-06-12T14:21:50","modified_gmt":"2026-06-12T11:21:50","slug":"detectie-mutatie-gjb2-35delg-surditate-genetica","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/detectie-mutatie-gjb2-35delg-surditate-genetica\/","title":{"rendered":"Detectie mutatie GJB2 35delG (Surditate genetica)"},"content":{"rendered":"<p>Gena GJB2 codific\u0103 proteina Connexina 26, esen\u021bial\u0103 pentru func\u021bionarea normal\u0103 a cohleei \u0219i pentru transmiterea semnalelor auditive \u00een urechea intern\u0103.<\/p>\n<p>Muta\u021bia <strong>35delG<\/strong> reprezint\u0103 cea mai frecvent\u0103 modificare genetic\u0103 asociat\u0103 surdit\u0103\u021bii neurosenzoriale congenitale autosomal recesive \u00een popula\u021biile europene \u0219i este responsabil\u0103 pentru un procent semnificativ din cazurile de hipoacuzie genetic\u0103 nesindromic\u0103.<\/p>\n<h3>Persoanele care mo\u0219tenesc dou\u0103 copii mutante ale genei pot prezenta:<\/h3>\n<ul>\n<li>Hipoacuzie congenital\u0103 sever\u0103 sau profund\u0103<\/li>\n<li>Pierdere auditiv\u0103 bilateral\u0103<\/li>\n<li>Afectare auditiv\u0103 izolat\u0103, f\u0103r\u0103 alte manifest\u0103ri clinice asociate<\/li>\n<\/ul>\n<p>Identificarea precoce a cauzei genetice permite stabilirea unui diagnostic etiologic precis \u0219i planificarea interven\u021biilor terapeutice \u0219i educa\u021bionale adecvate.<\/p>\n<h3>Indica\u021bii de testare<\/h3>\n<h3>Se recomand\u0103 \u00een urm\u0103toarele situa\u021bii:<\/h3>\n<ul>\n<li>Nou-n\u0103scu\u021bi cu screening auditiv modificat.<\/li>\n<li>Copii cu hipoacuzie neurosenzorial\u0103 congenital\u0103 sau precoce.<\/li>\n<li>Persoane cu surditate nesindromic\u0103 de cauz\u0103 necunoscut\u0103.<\/li>\n<li>Istoric familial de hipoacuzie genetic\u0103.<\/li>\n<li>Cupluri care planific\u0103 o sarcin\u0103 \u0219i doresc evaluarea riscului reproductiv.<\/li>\n<li>Screeningul partenerului unei persoane purt\u0103toare.<\/li>\n<li>Consiliere genetic\u0103 reproductiv\u0103.<\/li>\n<li>Investiga\u021bia etiologic\u0103 a pierderii congenitale a auzului.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>Nou-n\u0103scu\u021bilor \u0219i copiilor cu deficit auditiv.<\/li>\n<li>Persoanelor cu hipoacuzie neurosenzorial\u0103.<\/li>\n<li>Adul\u021bilor cu istoric familial de surditate genetic\u0103.<\/li>\n<li>Cuplurilor care planific\u0103 o sarcin\u0103.<\/li>\n<li>Persoanelor interesate de evaluarea statusului de purt\u0103tor pentru surditate ereditar\u0103.<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<h3>Analiza se realizeaz\u0103 prin metode de genetic\u0103 molecular\u0103, precum:<\/h3>\n<ul>\n<li>PCR (Polymerase Chain Reaction)<\/li>\n<\/ul>\n<h3>Rezultatul eviden\u021biaz\u0103 dac\u0103 pacientul este:<\/h3>\n<ul>\n<li>Nepurt\u0103tor al muta\u021biei<\/li>\n<li>Purt\u0103tor heterozigot<\/li>\n<li>Homozigot pentru muta\u021bia 35delG<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<h3>Identificarea cauzei genetice a hipoacuziei<\/h3>\n<p>Permite confirmarea uneia dintre cele mai frecvente cauze genetice de surditate congenital\u0103.<\/p>\n<h3>Diagnostic precoce<\/h3>\n<p>Faciliteaz\u0103 ini\u021bierea timpurie a interven\u021biilor audiologice \u0219i educa\u021bionale.<\/p>\n<h3>Evaluarea riscului reproductiv<\/h3>\n<p>Identific\u0103 purt\u0103torii s\u0103n\u0103to\u0219i \u0219i estimeaz\u0103 riscul de transmitere a afec\u021biunii c\u0103tre copii.<\/p>\n<h3>Consiliere genetic\u0103 personalizat\u0103<\/h3>\n<p>Ofer\u0103 informa\u021bii utile pentru planificarea familial\u0103 \u0219i testarea altor membri ai familiei.<\/p>\n<h3>Evitarea investiga\u021biilor inutile<\/h3>\n<p>Stabilirea cauzei genetice poate reduce necesitatea unor investiga\u021bii suplimentare costisitoare \u0219i invazive.<\/p>\n<h3>Prob\u0103 recoltat\u0103 \/ Condi\u021bii<\/h3>\n<h3>Prob\u0103:<\/h3>\n<ul>\n<li>S\u00e2nge periferic recoltat pe EDTA \u2013 <strong>2 x 6 ml<\/strong><\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>Nu necesit\u0103 repaus alimentar.<\/li>\n<li>Nu necesit\u0103 preg\u0103tire special\u0103.<\/li>\n<li>Proba poate fi recoltat\u0103 \u00een orice moment al zilei.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<h3>Pentru o evaluare genetic\u0103 complet\u0103 se recomand\u0103 asocierea cu:<\/h3>\n<ul>\n<li>Panel genetic pentru surditate ereditar\u0103<\/li>\n<li>Carrier Screening Extins ( https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/screening-status-de-purtator-420-gene-carrier-screening-420-genes-for-patients\/)<\/li>\n<li>Exom Clinic ( https:\/\/www.clinica-sante.com\/ro\/analize-serviciu-laborator\/wes-bioexome\/ )<\/li>\n<li>Testare complet\u0103 a genei GJB2<\/li>\n<li>Analiza genei GJB6<\/li>\n<li>Audiogram\u0103 tonal\u0103 \u0219i vocal\u0103<\/li>\n<li>Emisii otoacustice<\/li>\n<li>Poten\u021biale evocate auditive<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>GJB2 35delG<\/li>\n<li>Connexina 26 \u2013 35delG<\/li>\n<li>Test genetic pentru surditate ereditar\u0103<\/li>\n<li>Screening muta\u021bie 35delG<\/li>\n<li>GJB2 Mutation Analysis<\/li>\n<li>Connexin 26 Genetic Test<\/li>\n<li>Surditate genetic\u0103 \u2013 muta\u021bia 35delG<\/li>\n<\/ul>\n<h3>Limit\u0103ri ale testului<\/h3>\n<ul>\n<li>Analiza detecteaz\u0103 exclusiv muta\u021bia 35delG din gena GJB2.<\/li>\n<li>Un rezultat negativ nu exclude prezen\u021ba altor muta\u021bii patogene \u00een GJB2 sau \u00een alte gene asociate hipoacuziei ereditare.<\/li>\n<li>Pentru o evaluare complet\u0103 este recomandat un panel genetic extins pentru surditate sau secven\u021bierea complet\u0103 a genei GJB2.<\/li>\n<li>Interpretarea rezultatelor trebuie realizat\u0103 \u00een context clinic \u0219i genetic adecvat.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testul genetic pentru detec\u021bia muta\u021biei <strong>35delG<\/strong> din gena <strong>GJB2<\/strong> identific\u0103 cea mai frecvent\u0103 cauz\u0103 genetic\u0103 a hipoacuziei neurosenzoriale congenitale nesindromice. Analiza permite identificarea persoanelor afectate sau purt\u0103toare ale acestei muta\u021bii \u0219i contribuie la evaluarea riscului de transmitere a surdit\u0103\u021bii ereditare c\u0103tre descenden\u021bi.<\/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-26579","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 genetic pentru detec\u021bia muta\u021biei 35delG din gena GJB2 identific\u0103 cea mai frecvent\u0103 cauz\u0103 genetic\u0103 a hipoacuziei neurosenzoriale congenitale nesindromice. Analiza permite identificarea persoanelor afectate sau purt\u0103toare ale acestei muta\u021bii \u0219i contribuie la evaluarea riscului de transmitere a surdit\u0103\u021bii ereditare c\u0103tre descenden\u021bi.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-fertilitate-infertilitate-fiv\/detectie-mutatie-gjb2-35delg-surditate-genetica\/\" \/>\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=\"Detectie mutatie GJB2 35delG (Surditate genetica) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Testul genetic pentru detec\u021bia muta\u021biei 35delG din gena GJB2 identific\u0103 cea mai frecvent\u0103 cauz\u0103 genetic\u0103 a hipoacuziei neurosenzoriale congenitale nesindromice. 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