{"id":27306,"date":"2025-06-24T15:54:02","date_gmt":"2025-06-24T12:54:02","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-postnatal\/"},"modified":"2026-06-30T17:24:53","modified_gmt":"2026-06-30T14:24:53","slug":"ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-postnatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/ms-mlpa-pentru-sindrom-prader-willi-sindrom-angelman-diagnostic-postnatal\/","title":{"rendered":"MS-MLPA pentru Sindrom Prader-Willi \/Sindrom Angelman (diagnostic postnatal)"},"content":{"rendered":"<p>Sindromul Prader-Willi \u0219i sindromul Angelman sunt afec\u021biuni genetice rare determinate de anomalii ale regiunii cromozomiale <strong>15q11-q13<\/strong>, o regiune supus\u0103 fenomenului de amprentare genomic\u0103 (genomic imprinting).<\/p>\n<p>De\u0219i implic\u0103 aceea\u0219i regiune cromozomial\u0103, cele dou\u0103 sindroame apar prin mecanisme genetice diferite:<\/p>\n<ul>\n<li><strong>Sindromul Prader-Willi (PWS)<\/strong> rezult\u0103 din absen\u021ba expresiei genelor paterne din regiunea 15q11-q13.<\/li>\n<li><strong>Sindromul Angelman (AS)<\/strong> apare prin absen\u021ba expresiei genei materne UBE3A la nivel cerebral.<\/li>\n<\/ul>\n<h3>Metoda MS-MLPA permite detectarea simultan\u0103 a:<\/h3>\n<ul>\n<li>modific\u0103rilor de metilare caracteristice PWS \u0219i AS;<\/li>\n<li>dele\u021biilor \u0219i duplica\u021biilor din regiunea critic\u0103 15q11-q13;<\/li>\n<li>unor defecte de amprentare genomic\u0103 (imprinting defects).<\/li>\n<\/ul>\n<p>Aceasta reprezint\u0103 metoda de prim\u0103 inten\u021bie recomandat\u0103 interna\u021bional pentru diagnosticul molecular al acestor dou\u0103 sindroame.<\/p>\n<h3>Afec\u021biuni sau simptome asociate:<\/h3>\n<h3>Sindrom Prader-Willi:<\/h3>\n<ul>\n<li>Hipotonie neonatal\u0103 sever\u0103;<\/li>\n<li>Dificult\u0103\u021bi de alimenta\u021bie \u00een perioada neonatal\u0103;<\/li>\n<li>\u00cent\u00e2rziere de dezvoltare;<\/li>\n<li>Hiperfagie \u0219i obezitate progresiv\u0103;<\/li>\n<li>Hipogonadism;<\/li>\n<li>Deficit de hormon de cre\u0219tere;<\/li>\n<li>Tulbur\u0103ri comportamentale \u0219i cognitive;<\/li>\n<li>Statur\u0103 mic\u0103 \u0219i mas\u0103 muscular\u0103 redus\u0103.<\/li>\n<\/ul>\n<h3>Sindrom Angelman:<\/h3>\n<ul>\n<li>\u00cent\u00e2rziere sever\u0103 de dezvoltare neuropsihomotorie;<\/li>\n<li>Absen\u021ba sau afectarea sever\u0103 a limbajului;<\/li>\n<li>Ataxie \u0219i tulbur\u0103ri de mers;<\/li>\n<li>Crize epileptice;<\/li>\n<li>Microcefalie dob\u00e2ndit\u0103;<\/li>\n<li>Comportament caracteristic cu dispozi\u021bie vesel\u0103 \u0219i episoade frecvente de r\u00e2s;<\/li>\n<li>Tulbur\u0103ri de somn.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor geneticieni, neonatologilor, pediatrilor, neurologilor pediatri, endocrinologilor \u0219i altor speciali\u0219ti implica\u021bi \u00een evaluarea copiilor cu \u00eent\u00e2rziere de dezvoltare, hipotonie, tulbur\u0103ri neurologice sau suspiciune de sindrom de amprentare genomic\u0103.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza este realizat\u0103 prin tehnica <strong>MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification)<\/strong> pe ADN genomic extras din s\u00e2nge periferic.<\/p>\n<h3>Metoda permite:<\/h3>\n<ul>\n<li>evaluarea profilului de metilare al regiunii 15q11-q13;<\/li>\n<li>detectarea dele\u021biilor \u0219i duplica\u021biilor din regiunea critic\u0103;<\/li>\n<li>identificarea anomaliilor compatibile cu sindromul Prader-Willi sau sindromul Angelman.<\/li>\n<\/ul>\n<p>Testul ofer\u0103 o sensibilitate foarte ridicat\u0103 pentru detectarea principalelor mecanisme moleculare implicate \u00een aceste afec\u021biuni.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Reprezint\u0103 testul de prim\u0103 linie pentru diagnosticul molecular al PWS \u0219i AS;<\/li>\n<li>Permite confirmarea rapid\u0103 a suspiciunii clinice;<\/li>\n<li>Detecteaz\u0103 at\u00e2t anomaliile de metilare, c\u00e2t \u0219i dele\u021biile asociate;<\/li>\n<li>Faciliteaz\u0103 instituirea precoce a m\u0103surilor terapeutice \u0219i de recuperare;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru prognostic \u0219i management multidisciplinar;<\/li>\n<li>Permite consilierea genetic\u0103 adecvat\u0103 a familiei.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Detecteaz\u0103 majoritatea cazurilor de PWS \u0219i AS determinate de dele\u021bii \u0219i defecte de metilare;<\/li>\n<li>Nu identific\u0103 toate cazurile cauzate de disomie uniparental\u0103 (UPD) sau muta\u021bii punctiforme ale genei UBE3A;<\/li>\n<li>\u00cen cazul unui rezultat pozitiv pot fi necesare investiga\u021bii suplimentare pentru caracterizarea exact\u0103 a mecanismului genetic;<\/li>\n<li>Interpretarea rezultatelor trebuie realizat\u0103 \u00een context clinic \u0219i genetic.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<p>S\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml.<\/p>\n<h3>Recoltare:<\/h3>\n<p>Proba se recolteaz\u0103 \u00een vacutainer cu EDTA.<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Transport la 2\u20138\u00b0C.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<ul>\n<li>MS-MLPA Prader-Willi;<\/li>\n<li>MS-MLPA Angelman;<\/li>\n<li>Analiza de metilare 15q11-q13;<\/li>\n<li>Test molecular pentru sindrom Prader-Willi;<\/li>\n<li>Test molecular pentru sindrom Angelman;<\/li>\n<li>Diagnostic genetic al sindroamelor de amprentare genomic\u0103.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Analiz\u0103 pentru disomie uniparental\u0103 (UPD) cromozom 15;<\/li>\n<li>Secven\u021bierea genei UBE3A (\u00een suspiciunea de sindrom Angelman cu rezultat negativ la MS-MLPA);<\/li>\n<li>Microarray cromozomial (CMA);<\/li>\n<li>Consiliere genetic\u0103;<\/li>\n<li>Evaluare neurologic\u0103 \u0219i neuropsihologic\u0103;<\/li>\n<li>Evaluare endocrinologic\u0103 \u0219i nutri\u021bional\u0103 (\u00een special pentru sindromul Prader-Willi).<\/li>\n<\/ul>\n<h3>Not\u0103:<\/h3>\n<p>MS-MLPA identific\u0103 peste 99% dintre cazurile de sindrom Prader-Willi \u0219i aproximativ 80\u201385% dintre cazurile de sindrom Angelman, fiind considerat\u0103 metoda standard de prim\u0103 inten\u021bie pentru diagnosticul molecular postnatal al acestor afec\u021biuni genetice complexe. Diagnosticul precoce permite interven\u021bii terapeutice \u0219i programe de recuperare care pot \u00eembun\u0103t\u0103\u021bi semnificativ evolu\u021bia \u0219i calitatea vie\u021bii pacien\u021bilor.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 realizat\u0103 prin tehnica <strong>MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification)<\/strong>, utilizat\u0103 pentru diagnosticul postnatal al sindromului Prader-Willi (PWS) \u0219i sindromului Angelman (AS), prin evaluarea modific\u0103rilor de metilare \u0219i a dele\u021biilor\/duplica\u021biilor din regiunea cromozomial\u0103 15q11-q13.<\/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-27306","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 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 molecular\u0103 realizat\u0103 prin tehnica MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification), utilizat\u0103 pentru diagnosticul postnatal al sindromului Prader-Willi (PWS) \u0219i sindromului Angelman (AS), prin evaluarea modific\u0103rilor de metilare \u0219i a dele\u021biilor\/duplica\u021biilor din regiunea cromozomial\u0103 15q11-q13.\" \/>\n\t<meta name=\"robots\" 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