{"id":26807,"date":"2025-06-24T15:24:27","date_gmt":"2025-06-24T12:24:27","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/gena-dmd-testare-mlpa-prenatal\/"},"modified":"2026-06-16T15:28:04","modified_gmt":"2026-06-16T12:28:04","slug":"gena-dmd-testare-mlpa-prenatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/gena-dmd-testare-mlpa-prenatal\/","title":{"rendered":"Testare prenatala Gena DMD &#8211; Distrofie musculara Duchenne\/Becker (analiza MLPA)"},"content":{"rendered":"<p>Testul analizeaz\u0103 gena <strong>DMD (Dystrophin)<\/strong>, una dintre cele mai mari gene umane, localizat\u0103 pe cromozomul X, responsabil\u0103 de distrofia muscular\u0103 Duchenne (forma sever\u0103) \u0219i Becker (form\u0103 mai u\u0219oar\u0103).<\/p>\n<p>Prin tehnica <strong>MLPA (Multiplex Ligation-dependent Probe Amplification)<\/strong>, se detecteaz\u0103 modific\u0103rile de tip:<\/p>\n<ul>\n<li>dele\u021bii exonice<\/li>\n<li>duplica\u021bii exonice<br \/>la nivelul genei DMD, care reprezint\u0103 cauza majorit\u0103\u021bii cazurilor de boal\u0103.<\/li>\n<\/ul>\n<p>Analiza se realizeaz\u0103 pe ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale, fiind indicat\u0103 \u00een special \u00een familii cu muta\u021bii cunoscute sau risc genetic crescut.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Distrofia muscular\u0103 Duchenne (DMD) \u2013 form\u0103 sever\u0103, cu debut precoce;<\/li>\n<li>Distrofie muscular\u0103 Becker (BMD) \u2013 form\u0103 mai u\u0219oar\u0103, cu evolu\u021bie mai lent\u0103;<\/li>\n<li>Status de purt\u0103tor heterozigot la fetu\u0219ii de sex feminin;<\/li>\n<li>Afec\u021biuni neuromusculare legate de cromozomul X;<\/li>\n<li>Forme familiale de sl\u0103biciune muscular\u0103 progresiv\u0103.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, geneticienilor medicali \u0219i speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103 care gestioneaz\u0103 sarcini cu risc de boli neuromusculare X-linkate sau istoric familial de distrofie muscular\u0103 Duchenne\/Becker.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiz\u0103 MLPA (Multiplex Ligation-dependent Probe Amplification) aplicat\u0103 pe ADN fetal, care permite cuantificarea exact\u0103 a num\u0103rului de copii pentru exonii genei <strong>DMD<\/strong>.<\/p>\n<h3>Testul detecteaz\u0103:<\/h3>\n<ul>\n<li>dele\u021bii exonic\u0103<\/li>\n<li>duplica\u021bii exonic\u0103<\/li>\n<li>modific\u0103ri structurale relevante clinic \u00een gena DMD<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul prenatal al distrofiei musculare Duchenne\/Becker;<\/li>\n<li>Permite evaluarea statusului genetic fetal \u00een familiile cu risc pentru distrofia muscular\u0103 Duchenne\/Becker;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consiliere genetic\u0103 prenatal\u0103;<\/li>\n<li>Sus\u021bine deciziile medicale privind monitorizarea sarcinii;<\/li>\n<li>Metod\u0103 standard pentru detectarea modific\u0103rilor structurale \u00een gena DMD.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analizeaz\u0103 exclusiv dele\u021biile\/duplica\u021biile din gena DMD \u2013 nu detecteaz\u0103 muta\u021bii punctiforme;<\/li>\n<li>Nu ofer\u0103 informa\u021bii despre alte cauze de miopatii congenitale;<\/li>\n<li>Nu evalueaz\u0103 \u00eentregul genom sau alte gene neuromusculare;<\/li>\n<li>Interpretarea necesit\u0103 corelare cu statusul parental;<\/li>\n<li>Rezultatul trebuie integrat cu datele clinice \u0219i ecografice.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<ul>\n<li>Lichid amniotic<\/li>\n<li>Vilozit\u0103\u021bi coriale (biopsie de trofoblast)<\/li>\n<\/ul>\n<h3>Recoltare:<\/h3>\n<p>Recoltarea se realizeaz\u0103 prin amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale, \u00een condi\u021bii sterile, de c\u0103tre medic specialist, cu transport rapid al probei c\u0103tre laborator conform protocolului.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Calitatea ADN-ului fetal este esen\u021bial\u0103 pentru acurate\u021bea analizei MLPA. Degradarea probei sau contaminarea poate influen\u021ba interpretarea rezultatelor.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal DMD; Analiz\u0103 MLPA distrofie muscular\u0103 Duchenne\/Becker; Testare genetic\u0103 fetal\u0103 DMD; Diagnostic prenatal distrofie muscular\u0103 X-linkat\u0103.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Testare genetic\u0103 matern\u0103 DMD (carrier status);<\/li>\n<li>Panel NGS prenatal pentru boli neuromusculare;<\/li>\n<li>Microarray genomic prenatal (CentoArray Cyto);<\/li>\n<li>Cariotip fetal pentru anomalii cromozomiale mari;<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 detaliat\u0103;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103 \u00eenainte \u0219i dup\u0103 testare pentru interpretare complet\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, bazat\u0103 pe tehnica MLPA, destinat\u0103 detec\u021biei dele\u021biilor \u0219i duplica\u021biilor din gena <strong>DMD<\/strong>, asociate cu distrofia muscular\u0103 Duchenne \u0219i Becker la f\u0103t.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3173,2876],"product_tag":[],"class_list":["post-26807","product","type-product","status-publish","product_cat-analize","product_cat-genetica-in-sarcina","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=\"Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, bazat\u0103 pe tehnica MLPA, destinat\u0103 detec\u021biei dele\u021biilor \u0219i duplica\u021biilor din gena DMD, asociate cu distrofia muscular\u0103 Duchenne \u0219i Becker la f\u0103t.\" \/>\n\t<meta name=\"robots\" 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