{"id":18853,"date":"2017-02-13T12:07:34","date_gmt":"2017-02-13T12:07:34","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=18853"},"modified":"2023-01-06T00:36:58","modified_gmt":"2023-01-05T22:36:58","slug":"jouberti-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/jouberti-sundroom\/","title":{"rendered":"Jouberti s\u00fcndroom"},"content":{"rendered":"<h2 style=\"padding-left: 5px;\"><span style=\"color: #8399a7;\">Jouberti s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n<div class=\"sm_post_content\" style=\"background: url('https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Dysmorphology_01.png') repeat-y; padding-left: 40px;\">\n<table class=\"table no-border no-margin\" border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td width=\"110\"><strong>Geenid:<\/strong><\/td>\n<td><em>AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CEP104, CSPP1, INPP5E, KIF7, KIAA0556, KIAA0586, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM67, TMEM237, TTC21B, ZNF423<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #8399a7; background-color: #8399a7; height: 2px; border: none; width: 100%;\" \/>\n<table class=\"table no-border no-margin\" border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td width=\"110\"><strong>Metoodika:<\/strong><\/td>\n<td>Kodeeriva piirkonna sekveneerimine (NGS).<br \/>\nKoopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #8399a7; background-color: #8399a7; height: 2px; border: none; width: 100%;\" \/>\n<table class=\"table no-border no-margin\" border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td width=\"110\"><strong>Testi valmimisaeg:<\/strong><\/td>\n<td>6-9 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #8399a7; background-color: #8399a7; height: 2px; border: none; width: 100%;\" \/>\n<table class=\"table no-border no-margin\" border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td width=\"110\"><strong>N\u00f5uded proovi-<br \/>\nmaterjalile:<\/strong><\/td>\n<td>2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n<p>4 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l<br \/>\nA260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav \u00fche tervikliku b\u00e4ndina.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #8399a7; background-color: #8399a7; height: 2px; border: none; width: 100%;\" \/>\n<table class=\"table no-border no-margin\" border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td width=\"110\"><strong>Tellimine:<\/strong><\/td>\n<td>Proovimaterjal saata koos <span style=\"color: #8399a7;\"><strong><a style=\"color: #8399a7;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Dysmorphology-saatekiri.doc\">saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #8399a7; background-color: #8399a7; height: 2px; border: none; width: 100%;\" \/>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Jouberti s\u00fcndroomiga seotud geenide sekveneerimine Geenid: AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CEP104, CSPP1, INPP5E, KIF7, KIAA0556, KIAA0586, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM67, TMEM237, TTC21B, ZNF423 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale. Testi [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":19236,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-18853","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Jouberti s\u00fcndroomi geneetiline testimine\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/jouberti-sundroom\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO (AIOSEO) 5.0.0.1\" \/>\n\t\t<script type=\"application\/ld+json\" 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