{"id":26520,"date":"2025-06-24T14:50:06","date_gmt":"2025-06-24T11:50:06","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/secventiere-gena-bbs1-diagnostic-prenatal\/"},"modified":"2026-06-16T11:37:35","modified_gmt":"2026-06-16T08:37:35","slug":"secventiere-gena-bbs1-diagnostic-prenatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/secventiere-gena-bbs1-diagnostic-prenatal\/","title":{"rendered":"Secventiere gena BBS1 &#8211; diagnostic prenatal"},"content":{"rendered":"<p>Testul presupune secven\u021bierea genei <strong>BBS1<\/strong>, implicat\u0103 \u00een sindromul Bardet-Biedl, o afec\u021biune genetic\u0103 rar\u0103 cu transmitere autosomal recesiv\u0103, caracterizat\u0103 prin afectare multisistemic\u0103.<\/p>\n<p>Analiza se realizeaz\u0103 pe ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale \u0219i permite identificarea variantelor genetice patogene, probabil patogene sau VUS din gena BBS1.<\/p>\n<p>Sindromul Bardet-Biedl este o ciliopatie complex\u0103, cu expresivitate variabil\u0103 \u0219i debut postnatal, iar diagnosticul prenatal poate fi deosebit de util \u00een familiile cu risc genetic cunoscut.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Sindrom Bardet-Biedl (BBS) \u2013 form\u0103 genetic\u0103 multisistemic\u0103;<\/li>\n<li>Retinopatie pigmentar\u0103 de cauz\u0103 genetic\u0103;<\/li>\n<li>Obezitate sever\u0103 cu debut precoce de origine genetic\u0103;<\/li>\n<li>Anomalii renale congenitale asociate ciliopatiilor;<\/li>\n<li>Tulbur\u0103ri de dezvoltare neurocognitiv\u0103 asociate sindroamelor BBS;<\/li>\n<li>Status de purt\u0103tor sau afectare \u00een familii cu muta\u021bii BBS1 cunoscute.<\/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 genetic pentru ciliopatii sau sindrom Bardet-Biedl \u00een antecedente familiale.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Secven\u021bierea genei <strong>BBS1<\/strong> prin tehnologie NGS sau metodologie echivalent\u0103, aplicat\u0103 pe ADN fetal.<\/p>\n<h3>Analiza detecteaz\u0103:<\/h3>\n<ul>\n<li>muta\u021bii punctiforme (SNV)<\/li>\n<li>inser\u021bii\/dele\u021bii (indel)<\/li>\n<li>variante patogene, probabil patogene \u0219i VUS<\/li>\n<\/ul>\n<p>Testul este direc\u021bionat exclusiv c\u0103tre gena BBS1.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnosticul prenatal al sindromului Bardet-Biedl asociat BBS1;<\/li>\n<li>Poate identifica fetu\u0219ii afecta\u021bi sau purt\u0103tori atunci c\u00e2nd exist\u0103 o variant\u0103 familial\u0103 cunoscut\u0103 \u00een gena BBS1;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consilierea genetic\u0103 prenatal\u0103;<\/li>\n<li>Sus\u021bine deciziile medicale privind monitorizarea sarcinii;<\/li>\n<li>Contribuie la \u00een\u021belegerea riscului de boli rare autosomal recesive.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analizeaz\u0103 exclusiv gena BBS1 \u2013 nu acoper\u0103 alte gene implicate \u00een Bardet-Biedl;<\/li>\n<li>Nu exclude complet alte forme genetice de ciliopatii;<\/li>\n<li>Poate identifica variante VUS ce necesit\u0103 interpretare suplimentar\u0103;<\/li>\n<li>Rezultatul trebuie corelat cu statusul parental \u0219i istoricul familial;<\/li>\n<li>Nu \u00eenlocuie\u0219te panelurile genetice extinse pentru ciliopatii.<\/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. Proba este transportat\u0103 rapid c\u0103tre laborator<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Calitatea ADN-ului fetal este esen\u021bial\u0103 pentru acurate\u021bea secven\u021bierii.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Test prenatal BBS1; Secven\u021biere genetic\u0103 prenatal\u0103 Bardet-Biedl tip BBS1; Analiz\u0103 ADN fetal pentru BBS1; Diagnostic prenatal ciliopatie BBS1.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Panel NGS prenatal pentru ciliopatii (BBS gene panel extins);<\/li>\n<li>Microarray genomic prenatal (CentoArray Cyto);<\/li>\n<li>Cariotip fetal pentru anomalii cromozomiale mari;<\/li>\n<li>Testare genetic\u0103 parental\u0103 BBS1 (carrier screening);<\/li>\n<li>Ecografie morfologic\u0103 fetal\u0103 detaliat\u0103 (rinichi, inim\u0103, SNC);<\/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 secven\u021bierea genei <strong>BBS1<\/strong>, destinat\u0103 detect\u0103rii variantelor patogene asociate sindromului Bardet-Biedl 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-26520","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 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 prenatal\u0103 direc\u021bionat\u0103, bazat\u0103 pe secven\u021bierea genei BBS1, destinat\u0103 detect\u0103rii variantelor patogene asociate sindromului Bardet-Biedl la f\u0103t.\" \/>\n\t<meta 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