{"id":19257,"date":"2017-03-27T13:56:22","date_gmt":"2017-03-27T12:56:22","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=19257"},"modified":"2021-06-08T12:19:19","modified_gmt":"2021-06-08T09:19:19","slug":"skeleti-dusplaasia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/skeleti-dusplaasia\/","title":{"rendered":"Skeleti d\u00fcsplaasia"},"content":{"rendered":"<h2 style=\"padding-left: 5px;\"><span style=\"color: #8399a7;\">Skeleti d\u00fcsplaasiatega seotud geenide sekveneerimine\u00a0<\/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>AGPS, ALPL, ARSL, CANT1, CCN6, CHST3, CLCN7, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DHCR24, DVL1, DYM, DYNC2H1, DYNC2I2, EBP, ESCO2, EVC, EVC2, FAM111A, FAM20C, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, GPC6, HSPG2, IDUA, IFITM5, IFT80, IL11RA, INPPL1, LBR, LIFR, LRP5, MATN3, MMP13, MMP9, MSX2, NEK1, NOTCH2, NPR2, NSDHL, P3H1, PEX7, PLOD2, PPIB, PTDSS1, PTH1R, RECQL4, ROR2, SERPINH1, SHOX, SLC26A2, SLC29A3, SLC35D1, SOX9, TBX5, TCIRG1, TMEM38B, TRIP11, TRPV4, TWIST1, WDR19, WDR35, WNT1, WNT5A, XYLT1<\/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>1\u00a0\u00b5g\u00a0DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l<br \/>\nDNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis 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 <strong><span style=\"color: #8399a7;\"><a style=\"color: #8399a7;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Dysmorphology-saatekiri.doc\" target=\"_blank\" rel=\"noopener noreferrer\">saatekirjaga<\/a><\/span><\/strong> 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>\n<h2 style=\"padding-left: 5px;\"><span style=\"color: #8399a7;\">Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/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>ALX1, ALX3, ALX4, COL2A1, EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RUNX2, TWIST1<\/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>MLPA<\/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>4-6 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>1\u00a0\u00b5g\u00a0DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l<br \/>\nDNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis 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 <strong><span style=\"color: #8399a7;\"><a style=\"color: #8399a7;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Dysmorphology-saatekiri.doc\" target=\"_blank\" rel=\"noopener noreferrer\">saatekirjaga<\/a><\/span><\/strong> 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>\n<h2 style=\"padding-left: 5px;\"><span style=\"color: #8399a7;\">Valitud regioonide deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/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>Metoodika:<\/strong><\/td>\n<td>Submikroskoopiline kromosoomianal\u00fc\u00fcs<\/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>2-4 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-materjalile:<\/strong><\/td>\n<td>2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n<p>1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l<br \/>\nDNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/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>Skeleti d\u00fcsplaasiatega seotud geenide sekveneerimine\u00a0 Geenid: AGPS, ALPL, ARSL, CANT1, CCN6, CHST3, CLCN7, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DHCR24, DVL1, DYM, DYNC2H1, DYNC2I2, EBP, ESCO2, EVC, EVC2, FAM111A, FAM20C, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, GPC6, HSPG2, IDUA, IFITM5, IFT80, IL11RA, INPPL1, LBR, LIFR, LRP5, MATN3, MMP13, MMP9, [&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-19257","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=\"ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP11, TWIST1, WNT5A\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link 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