{"id":27172,"date":"2025-06-24T15:46:18","date_gmt":"2025-06-24T12:46:18","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-prenatal\/"},"modified":"2026-06-16T11:29:34","modified_gmt":"2026-06-16T08:29:34","slug":"ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-prenatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-prenatal\/","title":{"rendered":"MS-MLPA pentru Sindrom Prader-Willi \/Sindrom Angelman (diagnostic prenatal)"},"content":{"rendered":"<p>Testul MS-MLPA permite evaluarea statusului de metilare \u0219i a varia\u021biilor de num\u0103r de copii (dele\u021bii\/duplica\u021bii) \u00een regiunea critic\u0103 15q11\u2013q13, responsabil\u0103 pentru dou\u0103 sindroame genetice distincte, \u00een func\u021bie de originea parental\u0103 a defectului:<\/p>\n<ul>\n<li><strong>Sindrom Prader-Willi (PWS)<\/strong> \u2013 determinat de pierderea expresiei genelor paterne<\/li>\n<li><strong>Sindrom Angelman (AS)<\/strong> \u2013 determinat de pierderea expresiei genei materne UBE3A<\/li>\n<\/ul>\n<p>Analiza este aplicat\u0103 pe ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale \u0219i permite identificarea mecanismelor genetice implicate: dele\u021bii, disomie uniparental\u0103 sau defecte de metilare.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Sindrom Prader-Willi (hipotonie neonatal\u0103, tulbur\u0103ri endocrine, obezitate sever\u0103);<\/li>\n<li>Sindrom Angelman (\u00eent\u00e2rziere sever\u0103 de dezvoltare, epilepsie, tulbur\u0103ri de vorbire \u0219i comportament);<\/li>\n<li>Anomalii de imprinting genomic \u00een regiunea 15q11\u2013q13;<\/li>\n<li>Dele\u021bii cromozomiale microstructurale \u00een regiunea critic\u0103;<\/li>\n<li>Disomie uniparental\u0103 (UPD) implicat\u0103 \u00een mecanismele bolii.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103 \u0219i geneticienilor medicali care gestioneaz\u0103 sarcini cu suspiciune ecografic\u0103 sau istoric familial de sindroame de imprinting (Prader-Willi \/ Angelman).<\/p>\n<h3>Metodologie de testare:<\/h3>\n<h3>Analiz\u0103 MS-MLPA (Methylation-Specific MLPA) efectuat\u0103 pe ADN fetal, ce permite:<\/h3>\n<ul>\n<li>evaluarea statusului de metilare \u00een regiunea 15q11\u2013q13<\/li>\n<li>detectarea dele\u021biilor\/duplica\u021biilor \u00een aceea\u0219i regiune<\/li>\n<li>orientarea asupra mecanismului molecular al bolii (dele\u021bie, UPD sau defect de metilare)<\/li>\n<\/ul>\n<h3>Proba utilizat\u0103 este ob\u021binut\u0103 din:<\/h3>\n<ul>\n<li>lichid amniotic sau<\/li>\n<li>vilozit\u0103\u021bi coriale<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnostic prenatal specific pentru dou\u0103 sindroame neurogenetice severe;<\/li>\n<li>Contribuie la identificarea mecanismului molecular al bolii, nu doar la confirmarea prezen\u021bei sindromului;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru prognostic \u0219i consiliere genetic\u0103;<\/li>\n<li>Ajut\u0103 la luarea deciziilor medicale informate \u00een sarcinile cu risc;<\/li>\n<li>Metod\u0103 sensibil\u0103 pentru detectarea defectelor de imprinting genomic.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analizeaz\u0103 exclusiv regiunea 15q11\u2013q13 \u2013 nu detecteaz\u0103 alte boli genetice;<\/li>\n<li>Nu identific\u0103 muta\u021biile punctiforme ale genei UBE3A sau ale altor gene din regiune, atunci c\u00e2nd nu sunt asociate cu defecte de metilare sau dele\u021bii);<\/li>\n<li>Poate necesita teste suplimentare pentru confirmarea mecanismului (ex. UPD testing);<\/li>\n<li>Interpretarea trebuie corelat\u0103 cu datele clinice \u0219i ecografice;<\/li>\n<li>Nu \u00eenlocuie\u0219te testele genomice extinse (ex. microarray sau WES).<\/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 efectueaz\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 laboratorul de genetic\u0103.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Calitatea ADN-ului fetal este esen\u021bial\u0103 pentru acurate\u021bea analizei. Este necesar\u0103 manipularea corect\u0103 a probei pentru evitarea degrad\u0103rii sau contamin\u0103rii, care pot influen\u021ba interpretarea rezultatelor.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal Prader-Willi \/ Angelman; Analiz\u0103 MS-MLPA 15q11\u2013q13 prenatal; Diagnostic genetic prenatal sindroame de imprinting; Testare metilare genomic\u0103 fetal\u0103.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Microarray genomic prenatal (CentoArray Cyto) pentru CNV extins;<\/li>\n<li>Testare UPD (disomie uniparental\u0103) pentru confirmarea mecanismului;<\/li>\n<li>Cariotip fetal clasic pentru anomalii cromozomiale mari;<\/li>\n<li>NIPT ca screening ini\u021bial (\u00eenainte de diagnostic invaziv);<\/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 integrat\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 specific\u0103, bazat\u0103 pe tehnica MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification), utilizat\u0103 pentru detectarea anomaliilor de metilare \u0219i dele\u021biilor \u00een regiunea 15q11\u2013q13, asociate cu sindromul Prader-Willi \u0219i sindromul Angelman.<\/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-27172","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 5.0.0.1 - 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