{"id":144774,"date":"2026-11-03T13:25:41","date_gmt":"2026-11-03T11:25:41","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/testare-prenatala-smarcb1-analiza-deletiilor-si-duplicatiilor-prin-mlpa-lichid-amniotic\/"},"modified":"2026-11-03T13:25:41","modified_gmt":"2026-11-03T11:25:41","slug":"testare-prenatala-smarcb1-analiza-deletiilor-si-duplicatiilor-prin-mlpa-lichid-amniotic","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica\/testare-prenatala-smarcb1-analiza-deletiilor-si-duplicatiilor-prin-mlpa-lichid-amniotic\/","title":{"rendered":"Testare prenatal\u0103 SMARCB1 \u2013 analiza dele\u021biilor \u0219i duplica\u021biilor prin MLPA (lichid amniotic)"},"content":{"rendered":"<p>1. Descriere general\u0103<\/p>\n<p>Gena SMARCB1 codific\u0103 o protein\u0103 implicat\u0103 \u00een reglarea expresiei genice \u0219i \u00een controlul dezvolt\u0103rii celulare. Variantele patogene ale acestei gene sunt asociate cu predispozi\u021bia la anumite tumori, inclusiv tumorile rabdoide. Testarea prenatal\u0103 evalueaz\u0103 modific\u0103rile de tip dele\u021bie\/duplica\u021bie \u00een regiunile analizate.<\/p>\n<p>2. Parametrii analiza\u021bi<\/p>\n<ul>\n<li>Dele\u021bii ale unuia sau mai multor exoni din gena SMARCB1;<\/li>\n<li>Duplica\u021bii ale unuia sau mai multor exoni din gena SMARCB1;<\/li>\n<li>Alte modific\u0103ri ale num\u0103rului de copii detectabile prin MLPA \u00een regiunile investigate.<\/li>\n<\/ul>\n<p>3. Afec\u021biuni sau simptome asociate<\/p>\n<p>Modific\u0103rile patogene ale genei SMARCB1 pot fi asociate cu predispozi\u021bia la tumori rabdoide \u0219i cu sindromul de predispozi\u021bie la tumori rabdoide.<\/p>\n<p>4. Cui se adreseaz\u0103<\/p>\n<ul>\n<li>Sarcinilor \u00een care este cunoscut\u0103 o variant\u0103 patogen\u0103 familial\u0103 sau exist\u0103 o suspiciune genetic\u0103 relevant\u0103;<\/li>\n<li>Cazurilor \u00een care evaluarea prenatal\u0103 este indicat\u0103 de medicul genetician.<\/li>\n<\/ul>\n<p>5. Metodologie de testare<\/p>\n<p>MLPA (Multiplex Ligation-dependent Probe Amplification) \u2013 metod\u0103 de analiz\u0103 a varia\u021biilor num\u0103rului de copii ale secven\u021belor ADN din regiunile investigate.<\/p>\n<p>6. Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/p>\n<p>Poate contribui la identificarea prenatal\u0103 a dele\u021biilor \u0219i duplica\u021biilor relevante ale genei SMARCB1 \u0219i la clarificarea riscului genetic, \u00een contextul consilierii genetice.<\/p>\n<p>7. Particularit\u0103\u021bi \u0219i limit\u0103ri<\/p>\n<p>MLPA nu identific\u0103 toate tipurile de variante genetice, precum majoritatea variantelor punctiforme sau modific\u0103rile situate \u00een afara regiunilor acoperite de test. Rezultatul trebuie interpretat \u00een context clinic \u0219i genetic.<\/p>\n<p>8. Tip prob\u0103<\/p>\n<p>Lichid amniotic, recoltat prin amniocentez\u0103.<\/p>\n<p>9. Recoltare \u0219i condi\u021bii<\/p>\n<p>Recoltarea se efectueaz\u0103 de c\u0103tre medicul specialist, prin amniocentez\u0103. Proba se transport\u0103 \u00een condi\u021biile stabilite de laboratorul care efectueaz\u0103 analiza. Este necesar\u0103 identificarea corect\u0103 a probei \u0219i evitarea contamin\u0103rii cu s\u00e2nge matern.<\/p>\n<p>10. Denumiri alternative<\/p>\n<ul>\n<li>Testare prenatal\u0103 SMARCB1 prin MLPA;<\/li>\n<li>Analiza dele\u021biilor \u0219i duplica\u021biilor SMARCB1;<\/li>\n<li>SMARCB1 Prenatal Deletion\/Duplication Analysis.<\/li>\n<\/ul>\n<p>11. Analize asociate recomandate<\/p>\n<ul>\n<li>Testare genetic\u0103 parental\u0103, dac\u0103 este indicat\u0103;<\/li>\n<li>Analiza variantei familiale cunoscute;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103;<\/li>\n<li>Alte investiga\u021bii genetice \u021bintite, conform indica\u021biei medicale.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testare genetic\u0103 prenatal\u0103 pentru identificarea dele\u021biilor \u0219i duplica\u021biilor din gena <strong>SMARCB1<\/strong>, prin tehnica MLPA, utiliz\u00e2nd ADN extras din lichid amniotic.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,5015,3173,5016,2876],"product_tag":[],"class_list":["post-144774","product","type-product","status-publish","product_cat-analize","product_cat-genetica","product_cat-genetica-in-sarcina","product_cat-genetica-moleculara","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=\"Testare genetic\u0103 prenatal\u0103 pentru identificarea dele\u021biilor \u0219i duplica\u021biilor din gena SMARCB1, prin tehnica MLPA, utiliz\u00e2nd ADN extras din lichid amniotic.\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" 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