{"id":36764,"date":"2025-08-31T16:36:51","date_gmt":"2025-08-31T14:36:51","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/ms-mlpa-pentru-sindrom-silver-russell-beckwith-wiedemann\/"},"modified":"2026-03-25T14:41:29","modified_gmt":"2026-03-25T12:41:29","slug":"ms-mlpa-pentru-sindrom-silver-russell-beckwith-wiedemann","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/ms-mlpa-pentru-sindrom-silver-russell-beckwith-wiedemann\/","title":{"rendered":"MS-MLPA pentru Sindrom Silver-Russell\/Beckwith-Wiedemann"},"content":{"rendered":"<p>Testul investigheaz\u0103 modific\u0103rile epigenetice \u0219i structurale din regiunea <b>11p15<\/b>, o regiune critic\u0103 implicat\u0103 \u00een reglarea cre\u0219terii \u0219i dezvolt\u0103rii. Aceast\u0103 regiune con\u021bine centre de imprinting (IC1 \u0219i IC2), care controleaz\u0103 expresia genelor implicate \u00een cre\u0219terea fetal\u0103.<\/p>\n<p>Sindromul <b>Silver-Russell (SRS)<\/b> este asociat frecvent cu hipometilarea IC1, <b>mecanism care se coreleaz\u0103 cu restric\u021bia de cre\u0219tere.<\/b> Sindromul <b>Beckwith-Wiedemann (BWS)<\/b> este asociat,<b> \u00een anumite cazuri<\/b>, cu hipermetilarea IC1 sau hipometilarea IC2, mecanisme corelate cu supracre\u0219tere \u0219i risc crescut de tumori embrionare.<\/p>\n<p>Prin tehnologia<b> MS-MLPA<\/b>, testul permite:<\/p>\n<ul>\n<li>evaluarea statusului de metilare;<\/li>\n<li>detectarea dele\u021biilor \u0219i duplica\u021biilor (CNV) \u00een regiunea analizat\u0103;<\/li>\n<li>identificarea anomaliilor de imprinting.<\/li>\n<\/ul>\n<h3>Afec\u021biuni sau indica\u021bii asociate:<\/h3>\n<ul>\n<li>sindrom Silver-Russell, asociat cu restric\u021bie de cre\u0219tere intrauterin\u0103 \u0219i postnatal\u0103;<\/li>\n<li>sindrom Beckwith-Wiedemann, asociat cu supracre\u0219tere, macroglosie \u0219i organomegalie;<\/li>\n<li>asimetrii corporale;<\/li>\n<li>anomalii de cre\u0219tere neexplicate;<\/li>\n<li>suspiciune de tulbur\u0103ri de imprinting;<\/li>\n<li>risc crescut de tumori embrionare, \u00een contextul BWS.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<ul>\n<li>copiilor cu tulbur\u0103ri de cre\u0219tere, deficit sau exces pondero-statural;<\/li>\n<li>pacien\u021bilor cu semne clinice sugestive pentru SRS sau BWS;<\/li>\n<li>cazurilor \u00een care se suspecteaz\u0103 anomalii de imprinting genomic;<\/li>\n<li>situa\u021biilor \u00een care medicul recomand\u0103 evaluarea molecular\u0103 a regiunii 11p15.<\/li>\n<\/ul>\n<h3>Metodologie de testare:<\/h3>\n<p>Analiza se realizeaz\u0103 prin MS-MLPA \u0219i permite:<\/p>\n<ul>\n<li>evaluarea metil\u0103rii ADN \u00een regiunea 11p15;<\/li>\n<li>detectarea varia\u021biilor de num\u0103r de copii (CNV);<\/li>\n<li>identificarea dezechilibrelor de imprinting.<\/li>\n<\/ul>\n<p>Metoda combin\u0103 analiza cantitativ\u0103 a ADN-ului cu evaluarea statusului epigenetic.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>poate sus\u021bine confirmarea diagnosticului molecular \u00een sindroamele SRS \u0219i BWS;<\/li>\n<li>permite diferen\u021bierea \u00eentre mecanismele genetice \u0219i epigenetice implicate;<\/li>\n<li>poate orienta monitorizarea clinic\u0103, inclusiv screeningul tumoral \u00een BWS;<\/li>\n<li>sus\u021bine consilierea genetic\u0103 familial\u0103;<\/li>\n<li>poate contribui la stabilirea conduitei medicale.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>analiza este limitat\u0103 la regiunea 11p15;<\/li>\n<li>nu detecteaz\u0103 toate tipurile de muta\u021bii genetice;<\/li>\n<li>unele cazuri pot necesita investiga\u021bii suplimentare (ex. UPD, alte regiuni de imprinting);<\/li>\n<li>interpretarea necesit\u0103 corelare clinic\u0103.<\/li>\n<\/ul>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Analiza UPD (uniparental disomy) pentru cromozomul 11;<\/li>\n<li>Paneluri genetice pentru tulbur\u0103ri de cre\u0219tere;<\/li>\n<li>Monitorizare ecografic\u0103 \u0219i oncologic\u0103 (\u00een BWS);<\/li>\n<li>Consiliere genetic\u0103;<\/li>\n<li>Evaluare endocrinologic\u0103 pediatric\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 molecular\u0103 realizat\u0103 prin <b>MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification)<\/b>, utilizat\u0103 pentru detectarea anomaliilor de metilare \u0219i a varia\u021biilor de num\u0103r de copii din regiunea cromozomial\u0103 11p15, asociate cu <b>sindromul Silver-Russell (SRS)<\/b> \u0219i <b>sindromul Beckwith-Wiedemann (BWS).<\/b><\/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-36764","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 - 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