{"id":27173,"date":"2025-06-24T14:46:22","date_gmt":"2025-06-24T12:46:22","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/test-panorama-cu-22q11-2-sindrom-digeorge\/"},"modified":"2026-02-27T17:58:52","modified_gmt":"2026-02-27T15:58:52","slug":"test-panorama-cu-22q11-2-sindrom-digeorge","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/test-panorama-cu-22q11-2-sindrom-digeorge\/","title":{"rendered":"Test Panorama cu 22q11.2 (sindrom diGeorge)"},"content":{"rendered":"<p><strong>Test Panorama cu 22q11.2 (sindrom DiGeorge)<\/strong> utilizeaz\u0103 tehnologia unic\u0103 SNP-based NIPT (Single Nucleotide Polymorphism), care distinge ADN-ul fetal de cel matern \u0219i permite detectarea precis\u0103 a anomaliilor cromozomiale \u0219i microdele\u021biilor.<\/p>\n<\/p>\n<p>Este un test complet non-invaziv, realizat dintr-o prob\u0103 simpl\u0103 de s\u00e2nge matern, f\u0103r\u0103 riscuri pentru f\u0103t, validat clinic prin studiul SMART, cel mai amplu studiu multicentric pentru evaluarea performan\u021bei testelor NIPT bazate pe SNP-uri.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Trisomia 21 (sindromul Down)<\/li>\n<li>Trisomia 18 (sindromul Edwards)<\/li>\n<li>Trisomia 13 (sindromul Patau)<\/li>\n<li>Aneuploidii <strong>ale<\/strong> cromozomilor X\/Y (Turner, Klinefelter, XXX, XYY)<\/li>\n<li>Sindromul DiGeorge (dele\u021bia 22q11.2), asociat cu:\n<ul>\n<li>defecte cardiace congenitale<\/li>\n<li>hipocalcemie neonatal\u0103<\/li>\n<li>imunitate sc\u0103zut\u0103<\/li>\n<li>\u00eent\u00e2rziere de dezvoltare \u0219i anomalii craniofaciale<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/p>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Femeilor \u00eens\u0103rcinate care doresc o evaluare extins\u0103 a riscului genetic fetal<\/li>\n<li>Pacientelor cu anomalii ecografice sau istoric familial de malforma\u021bii congenitale<\/li>\n<li>Femeilor cu v\u00e2rst\u0103 matern\u0103 peste <strong>35 de ani<\/strong><\/li>\n<li>Sarcini ob\u021binute natural sau prin FIV<\/li>\n<li>Pacientelor care doresc detectarea precoce a sindromului DiGeorge f\u0103r\u0103 proceduri invazive<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>Extrac\u021bia ADN-ului liber circulant din <strong>plasma<\/strong> matern\u0103<\/li>\n<li>Analiza SNP-urilor \u0219i evaluarea raportului de copii cromozomiali<\/li>\n<li>Algoritm bioinformatic avansat pentru identificarea aneuploidiilor \u0219i microdele\u021biilor<\/li>\n<li>Tehnologie validat\u0103 clinic \u00een studiul SMART (Natera, 2022)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Test sigur \u0219i complet non-invaziv<\/li>\n<li>Detecteaz\u0103 cele mai frecvente aneuploidii \u0219i sindromul DiGeorge<\/li>\n<li>Rat\u0103 de detec\u021bie superioar\u0103 \u0219i fals-pozitive minime (comparativ cu testele bazate pe num\u0103rarea fragmentelor <strong>de<\/strong> ADN)<\/li>\n<li>Permite evitarea procedurilor invazive inutile<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consiliere genetic\u0103 prenatal\u0103 \u0219i planificarea sarcinii<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Este un test de screening, nu un test diagnostic \u2013 rezultatele cu risc crescut necesit\u0103 confirmare prin cariotipare fetal\u0103, FISH sau <strong>arrayCGH<\/strong><\/li>\n<li>Nu detecteaz\u0103 toate microdele\u021biile rare sau muta\u021biile punctiforme<\/li>\n<li>Se poate efectua din s\u0103pt\u0103m\u00e2na 9 de sarcin\u0103<\/li>\n<li>\u00cen caz de frac\u021bie fetal\u0103 sc\u0103zut\u0103, poate fi necesar\u0103 repetarea testului f\u0103r\u0103 cost suplimentar<\/li>\n<li>Nu este recomandat pentru sarcini gemelare multiple (&gt;2 fe\u021bi)<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Ecografie morfologic\u0103 fetal\u0103 (trim. I \u0219i II)<\/li>\n<li>Panorama Complete (T3) pentru microdele\u021bii suplimentare rare<\/li>\n<li>Confirmare prin amniocentez\u0103 \u0219i <strong>arrayCGH<\/strong> \u00een caz de rezultat cu risc crescut<\/li>\n<li>Consult genetic prenatal pentru interpretarea complet\u0103 a rezultatelor<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Test Panorama cu 22q11.2 (sindrom DiGeorge)<\/strong> este un test prenatal non-invaziv (NIPT) bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern. Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13 <strong>\u0219i<\/strong> anomaliile cromozomilor sexuali), testul include \u0219i evaluarea microdele\u021biei 22q11.2 (sindromul DiGeorge) \u2013 cea mai frecvent\u0103 microdele\u021bie asociat\u0103 cu malforma\u021bii congenitale \u0219i \u00eent\u00e2rziere de dezvoltare.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>Testul nu vizeaz\u0103 gene individuale, ci regiuni cromozomiale specifice:<\/p>\n<\/p>\n<ul>\n<li>Trisomia 21 (sindromul Down)<\/li>\n<li>Trisomia 18 (sindromul Edwards)<\/li>\n<li>Trisomia 13 (sindromul Patau)<\/li>\n<li>Aneuploidii ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)<\/li>\n<li>Microdele\u021bia 22q11.2 (sindromul DiGeorge)<\/li>\n<\/ul>\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-27173","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 4.9.9 - aioseo.com -->\n\t<meta name=\"description\" content=\"Test Panorama cu 22q11.2 (sindrom DiGeorge) este un test prenatal non-invaziv (NIPT) bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern. Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13 \u0219i anomaliile cromozomilor sexuali), testul include \u0219i evaluarea microdele\u021biei 22q11.2 (sindromul DiGeorge) \u2013 cea mai frecvent\u0103 microdele\u021bie asociat\u0103 cu malforma\u021bii congenitale \u0219i \u00eent\u00e2rziere de dezvoltare.Gene analizateTestul nu vizeaz\u0103 gene individuale, ci regiuni cromozomiale specifice:Trisomia 21 (sindromul Down)Trisomia 18 (sindromul Edwards)Trisomia 13 (sindromul Patau)Aneuploidii ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)Microdele\u021bia 22q11.2 (sindromul DiGeorge)\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/test-panorama-cu-22q11-2-sindrom-digeorge\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 4.9.9\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Test Panorama cu 22q11.2 (sindrom diGeorge) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Test Panorama cu 22q11.2 (sindrom DiGeorge) este un test prenatal non-invaziv (NIPT) bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern. Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13 \u0219i anomaliile cromozomilor sexuali), testul include \u0219i evaluarea microdele\u021biei 22q11.2 (sindromul DiGeorge) \u2013 cea mai frecvent\u0103 microdele\u021bie asociat\u0103 cu malforma\u021bii congenitale \u0219i \u00eent\u00e2rziere de dezvoltare.Gene analizateTestul nu vizeaz\u0103 gene individuale, ci regiuni cromozomiale specifice:Trisomia 21 (sindromul Down)Trisomia 18 (sindromul Edwards)Trisomia 13 (sindromul Patau)Aneuploidii ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)Microdele\u021bia 22q11.2 (sindromul DiGeorge)\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/test-panorama-cu-22q11-2-sindrom-digeorge\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:46:22+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T15:58:52+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Test Panorama cu 22q11.2 (sindrom diGeorge) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Test Panorama cu 22q11.2 (sindrom DiGeorge) este un test prenatal non-invaziv (NIPT) bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern. Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13 \u0219i anomaliile cromozomilor sexuali), testul include \u0219i evaluarea microdele\u021biei 22q11.2 (sindromul DiGeorge) \u2013 cea mai frecvent\u0103 microdele\u021bie asociat\u0103 cu malforma\u021bii congenitale \u0219i \u00eent\u00e2rziere de dezvoltare.Gene analizateTestul nu vizeaz\u0103 gene individuale, ci regiuni cromozomiale specifice:Trisomia 21 (sindromul Down)Trisomia 18 (sindromul Edwards)Trisomia 13 (sindromul Patau)Aneuploidii ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)Microdele\u021bia 22q11.2 (sindromul DiGeorge)\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/test-panorama-cu-22q11-2-sindrom-digeorge\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"position\":1,\"name\":\"Prima pagin\\u0103\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"position\":2,\"name\":\"Analize Medicale\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"name\":\"Prima pagin\\u0103\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"position\":3,\"name\":\"Analize\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"position\":4,\"name\":\"Serviciu laborator\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/#listItem\",\"name\":\"Genetic\\u0103 \\u00een sarcin\\u0103\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/#listItem\",\"position\":5,\"name\":\"Genetic\\u0103 \\u00een sarcin\\u0103\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/test-panorama-cu-22q11-2-sindrom-digeorge\\\/#listItem\",\"name\":\"Test Panorama cu 22q11.2 (sindrom diGeorge)\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/test-panorama-cu-22q11-2-sindrom-digeorge\\\/#listItem\",\"position\":6,\"name\":\"Test Panorama cu 22q11.2 (sindrom diGeorge)\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-genetica-in-sarcina\\\/#listItem\",\"name\":\"Genetic\\u0103 \\u00een sarcin\\u0103\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#organization\",\"name\":\"Clinica Sante - 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