{"id":26982,"date":"2025-06-24T14:35:18","date_gmt":"2025-06-24T12:35:18","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/arraycgh-hd-postnatal-cytoscan-hd-postnatal\/"},"modified":"2026-02-27T17:55:50","modified_gmt":"2026-02-27T15:55:50","slug":"arraycgh-hd-postnatal-cytoscan-hd-postnatal","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-arraycgh\/arraycgh-hd-postnatal-cytoscan-hd-postnatal\/","title":{"rendered":"ArrayCGH HD postnatal &#8211; CytoScan HD Postnatal"},"content":{"rendered":"<p><strong>ArrayCGH HD<\/strong> compar\u0103 ADN-ul pacientului cu ADN martor pentru a detecta dezechilibre cromozomiale submicroscopice la rezolu\u021bie excep\u021bional\u0103. Tehnica dep\u0103\u0219e\u0219te limitele matricei 60K, 180K sau 750K, fiind potrivit\u0103 pentru diagnosticul cazurilor genetice complexe, incluz\u00e2nd microdele\u021bii\/duplica\u021bii intragenice \u0219i LOH.<\/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>tulbur\u0103ri neurologice \u0219i genetice complexe<\/li>\n<li>suspiciune clinic\u0103 de muta\u021bii intragenice sau microdele\u021bii\/duplica\u021bii subtile<\/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 60K, 180K 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 unice sau multiple<\/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) pe matrice CytoScan HD<\/li>\n<li>include analiza SNP pentru detectarea pierderilor de heterozigozitate (LOH)<\/li>\n<li>detecteaz\u0103 microdele\u021bii \u0219i microduplica\u021bii submicroscopice p\u00e2n\u0103 la nivel de exoni individuali<\/li>\n<li>compar\u0103 ADN pacient vs ADN martor<\/li>\n<li>software specializat pentru identificarea CNV \u0219i LOH la rezolu\u021bie maxim\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 cromozomiale subtile ce scap\u0103 altor tipuri de ArrayCGH<\/li>\n<li>permite diagnostic molecular de \u00eenalt\u0103 precizie pentru cazuri complexe<\/li>\n<li>identific\u0103 muta\u021bii intragenice unice sau multiple, microdele\u021bii\/duplica\u021bii foarte mici \u0219i LOH<\/li>\n<li>contribuie la consilierea genetic\u0103, planificarea managementului pacientului \u0219i selec\u021bia investiga\u021biilor complementare<\/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 boli monogenice cauzate de muta\u021bii la nivel de nucleotide (se recomand\u0103 WES\/WGS pentru acestea)<\/li>\n<li>nu este recomandat\u0103 pentru boli mitocondriale sau multifactoriale<\/li>\n<li>rezolu\u021bie extrem de mare: detecteaz\u0103 microdele\u021bii\/duplica\u021bii la nivel de exoni \u0219i LOH<\/li>\n<li>detecteaz\u0103 doar varia\u021biile prezentate \u00een matricea utilizat\u0103; poate fi necesar WES\/WGS pentru cazuri rare<\/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 rezultatul este negativ, dar suspiciunea clinic\u0103 persist\u0103<\/li>\n<li>teste func\u021bionale sau clinice complementare pentru anomalii specifice<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>ArrayCGH HD Postnatal <\/strong>este o analiz\u0103 genomic\u0103 de rezolu\u021bie maxim\u0103, capabil\u0103 s\u0103 detecteze varia\u021bii ale num\u0103rului de copii (CNV) la nivel de \u00eentreg genom, inclusiv microdele\u021bii, microduplica\u021bii \u0219i pierderi de heterozigozitate (LOH). Este utilizat\u0103 pentru diagnosticul postnatal complex, \u00een special atunci c\u00e2nd alte tipuri de ArrayCGH sau cariotipul conven\u021bional nu au identificat modific\u0103ri.<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">Gene analizate<\/strong><\/p>\n<\/p>\n<p>Analiza include milioane de sonde CytoScan HD, acoperind \u00eentregul genom cu rezolu\u021bie extrem de mare. Permite identificarea CNV-urilor p\u00e2n\u0103 la nivel de exoni individuali, incluz\u00e2nd at\u00e2t regiuni critice frecvent asociate cu patologie, c\u00e2t \u0219i varia\u021bii intragenice mai rare. Detecteaz\u0103 \u0219i pierderi de heterozigozitate (LOH).<\/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-26982","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 HD Postnatal este o analiz\u0103 genomic\u0103 de rezolu\u021bie maxim\u0103, capabil\u0103 s\u0103 detecteze varia\u021bii ale num\u0103rului de copii (CNV) la nivel de \u00eentreg genom, inclusiv microdele\u021bii, microduplica\u021bii \u0219i pierderi de heterozigozitate (LOH). Este utilizat\u0103 pentru diagnosticul postnatal complex, \u00een special atunci c\u00e2nd alte tipuri de ArrayCGH sau cariotipul conven\u021bional nu au identificat modific\u0103ri.Gene analizateAnaliza include milioane de sonde CytoScan HD, acoperind \u00eentregul genom cu rezolu\u021bie extrem de mare. Permite identificarea CNV-urilor p\u00e2n\u0103 la nivel de exoni individuali, incluz\u00e2nd at\u00e2t regiuni critice frecvent asociate cu patologie, c\u00e2t \u0219i varia\u021bii intragenice mai rare. 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Este utilizat\u0103 pentru diagnosticul postnatal complex, \u00een special atunci c\u00e2nd alte tipuri de ArrayCGH sau cariotipul conven\u021bional nu au identificat modific\u0103ri.Gene analizateAnaliza include milioane de sonde CytoScan HD, acoperind \u00eentregul genom cu rezolu\u021bie extrem de mare. Permite identificarea CNV-urilor p\u00e2n\u0103 la nivel de exoni individuali, incluz\u00e2nd at\u00e2t regiuni critice frecvent asociate cu patologie, c\u00e2t \u0219i varia\u021bii intragenice mai rare. 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Este utilizat\u0103 pentru diagnosticul postnatal complex, \u00een special atunci c\u00e2nd alte tipuri de ArrayCGH sau cariotipul conven\u021bional nu au identificat modific\u0103ri.Gene analizateAnaliza include milioane de sonde CytoScan HD, acoperind \u00eentregul genom cu rezolu\u021bie extrem de mare. Permite identificarea CNV-urilor p\u00e2n\u0103 la nivel de exoni individuali, incluz\u00e2nd at\u00e2t regiuni critice frecvent asociate cu patologie, c\u00e2t \u0219i varia\u021bii intragenice mai rare. 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