{"id":28529,"date":"2023-01-05T20:14:08","date_gmt":"2023-01-05T18:14:08","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28529"},"modified":"2026-06-05T14:22:19","modified_gmt":"2026-06-05T11:22:19","slug":"metaboolne-muopaatia-ja-rabdomuoluus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/metaboolne-muopaatia-ja-rabdomuoluus\/","title":{"rendered":"Metaboolne m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcs"},"content":{"rendered":"<h2 style=\"padding-left: 5px;\"><span style=\"color: #dcc900;\">Metaboolse m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcsiga seotud geenide sekveneerimine<\/span><\/h2>\n<div class=\"sm_post_content\" style=\"background: url('https:\/\/www.asperbio.com\/wp-content\/uploads\/Neuro-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>Geen:<\/strong><\/td>\n<td>ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FDX2 (FDX1L), FKRP, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PRKAG2, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SIL1, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, SUCLA2, TANGO2, TAZ, TK2, TSEN54, TWNK, TYMP<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #dcc900; background-color: #dcc900; 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: #dcc900; background-color: #dcc900; 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: #dcc900; background-color: #dcc900; 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: #dcc900; background-color: #dcc900; 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: #dcc900;\"><strong><a style=\"color: #dcc900;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Neurogenetics-saatekiri.doc\">saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #dcc900; background-color: #dcc900; height: 2px; border: none; width: 100%;\" \/>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Metaboolse m\u00fcopaatia ja rabdom\u00fcol\u00fc\u00fcsiga seotud geenide sekveneerimine Geen: ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FDX2 (FDX1L), FKRP, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PRKAG2, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SIL1, [&hellip;]<\/p>\n","protected":false},"author":11,"featured_media":0,"parent":14761,"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-28529","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 4.9.10 - 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