{"id":26838,"date":"2025-06-24T14:26:25","date_gmt":"2025-06-24T12:26:25","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/arraycgh-xon-postnatal-cytoscan-xon-postnatal\/"},"modified":"2026-02-27T17:54:10","modified_gmt":"2026-02-27T15:54:10","slug":"arraycgh-xon-postnatal-cytoscan-xon-postnatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-arraycgh\/arraycgh-xon-postnatal-cytoscan-xon-postnatal\/","title":{"rendered":"ArrayCGH XON postnatal &#8211; CytoScan XON Postnatal"},"content":{"rendered":"<p><strong>ArrayCGH XON<\/strong> utilizeaz\u0103 hibridizare genomic\u0103 comparativ\u0103, compar\u00e2nd ADN-ul pacientului cu ADN martor, pentru a detecta microdele\u021bii\/duplica\u021bii intragenice, CNV-uri subtile \u0219i pierderi de heterozigozitate. Aceast\u0103 tehnic\u0103 ofer\u0103 rezolu\u021bie maxim\u0103 pentru diagnostic molecular de precizie \u00een cazuri genetice complexe \u0219i sindromice.<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>\u00eent\u00e2rzieri severe \u00een dezvoltarea cognitiv\u0103 sau psihomotorie<\/li>\n<li>dizabilitate intelectual\u0103 complex\u0103<\/li>\n<li>anomalii congenitale multiple \u0219i sindromice<\/li>\n<li>dismorfii craniofaciale<\/li>\n<li>suspiciune clinic\u0103 de muta\u021bii intragenice unice sau multiple<\/li>\n<li>tulbur\u0103ri neurologice \u0219i genetice rare<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bi postnatal cu suspiciune de boal\u0103 genetic\u0103 complex\u0103 \u0219i arrayCGH HD sau 750K negativ<\/li>\n<li>copii cu \u00eent\u00e2rziere \u00een dezvoltare, dizabilitate intelectual\u0103 sau anomalii congenitale neelucidate<\/li>\n<li>pacien\u021bi cu suspiciuni de muta\u021bii intragenice foarte mici sau complexe<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>hibridizare genomic\u0103 comparativ\u0103 (ArrayCGH XON) la rezolu\u021bie exomic\u0103<\/li>\n<li>include analiza pierderilor de heterozigozitate (LOH)<\/li>\n<li>detecteaz\u0103 microdele\u021bii \u0219i microduplica\u021bii la nivel de exoni<\/li>\n<li>compar\u0103 ADN pacient vs ADN martor<\/li>\n<li>software specializat pentru identificarea CNV \u0219i LOH la rezolu\u021bie exomic\u0103<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Beneficii \u0219i importan\u021ba clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>detecteaz\u0103 dezechilibre cromosomiale subtile care scap\u0103 altor tipuri de arrayCGH<\/li>\n<li>permite diagnostic molecular precis pentru muta\u021bii intragenice \u0219i microdele\u021bii\/<strong>duplicatii<\/strong> subtile<\/li>\n<li>cre\u0219te acurate\u021bea consilierii genetice \u0219i managementul pacientului<\/li>\n<li>poate ghida selec\u021bia testelor complementare sau terapiilor \u021bintite<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>nu detecteaz\u0103 muta\u021bii punctiforme (nucleotide), pentru acestea fiind recomandate WES\/WGS<\/li>\n<li>nu este recomandat\u0103 pentru boli mitocondriale sau multifactoriale<\/li>\n<li>rezolu\u021bie exomic\u0103: detecteaz\u0103 CNV-uri intragenice la nivel de exoni individuali \u0219i LOH<\/li>\n<li>detecteaz\u0103 doar varia\u021biile prezente \u00een matricea XON; pentru muta\u021bii rare se poate recomanda secven\u021biere complet\u0103<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Condi\u021bii pentru recoltare<\/strong><\/p>\n<\/p>\n<ul>\n<li>recoltare standard, evit\u00e2nd hemoliza<\/li>\n<li>depozitare \u0219i transport conform instruc\u021biunilor laboratorului<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>consult genetic post-test pentru interpretare<\/li>\n<li>WES\/WGS dac\u0103 suspiciunea clinic\u0103 persist\u0103 \u0219i XON nu identific\u0103 modific\u0103ri<\/li>\n<li>teste func\u021bionale sau clinice complementare pentru anomalii specifice<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>ArrayCGH XON Postnatal<\/strong> este o analiz\u0103 genomic\u0103 de rezolu\u021bie extrem de \u00eenalt\u0103, conceput\u0103 pentru a detecta varia\u021bii ale num\u0103rului de copii (CNV) la nivel de exoni individuali, microdele\u021bii\/duplica\u021bii subtile \u0219i pierderi de heterozigozitate (LOH). Este recomandat\u0103 pentru diagnosticul postnatal \u00een cazuri complexe, atunci c\u00e2nd matricele tradi\u021bionale (60K, 180K, 750K, HD) nu identific\u0103 modific\u0103ri.<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Gene analizate<\/strong><\/p>\n<\/p>\n<p>Analiza permite investigarea \u00eentregului genom, cu accent pe por\u021biuni codante (exoni) din interiorul genelor, oferind detec\u021bie la nivel intragenic. Include sonde pentru identificarea CNV-urilor \u0219i LOH, inclusiv \u00een regiuni dificil de evaluat prin alte tipuri de<strong> <\/strong>arrayCGH.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3162,2876],"product_tag":[],"class_list":["post-26838","product","type-product","status-publish","product_cat-analize","product_cat-arraycgh","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=\"ArrayCGH XON Postnatal este o analiz\u0103 genomic\u0103 de rezolu\u021bie extrem de \u00eenalt\u0103, conceput\u0103 pentru a detecta varia\u021bii ale num\u0103rului de copii (CNV) la nivel de exoni individuali, microdele\u021bii\/duplica\u021bii subtile \u0219i pierderi de heterozigozitate (LOH). Este recomandat\u0103 pentru diagnosticul postnatal \u00een cazuri complexe, atunci c\u00e2nd matricele tradi\u021bionale (60K, 180K, 750K, HD) nu identific\u0103 modific\u0103ri.Gene analizateAnaliza permite investigarea \u00eentregului genom, cu accent pe por\u021biuni codante (exoni) din interiorul genelor, oferind detec\u021bie la nivel intragenic. 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Este recomandat\u0103 pentru diagnosticul postnatal \u00een cazuri complexe, atunci c\u00e2nd matricele tradi\u021bionale (60K, 180K, 750K, HD) nu identific\u0103 modific\u0103ri.Gene analizateAnaliza permite investigarea \u00eentregului genom, cu accent pe por\u021biuni codante (exoni) din interiorul genelor, oferind detec\u021bie la nivel intragenic. 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Este recomandat\u0103 pentru diagnosticul postnatal \u00een cazuri complexe, atunci c\u00e2nd matricele tradi\u021bionale (60K, 180K, 750K, HD) nu identific\u0103 modific\u0103ri.Gene analizateAnaliza permite investigarea \u00eentregului genom, cu accent pe por\u021biuni codante (exoni) din interiorul genelor, oferind detec\u021bie la nivel intragenic. 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