{"id":21161,"date":"2018-01-17T13:50:35","date_gmt":"2018-01-17T11:50:35","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=21161"},"modified":"2026-06-05T14:18:27","modified_gmt":"2026-06-05T11:18:27","slug":"kaasasundinud-muopaatia-ja-distaalne-muopaatia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/kaasasundinud-muopaatia-ja-distaalne-muopaatia\/","title":{"rendered":"Kaasas\u00fcndinud m\u00fcopaatia ja distaalne m\u00fcopaatia"},"content":{"rendered":"<h2 style=\"padding-left: 5px;\"><span style=\"color: #dcc900;\">Kaasas\u00fcndinud- ja distaalse m\u00fcopaatiaga 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>Geenid:<\/strong><\/td>\n<td><em>ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP<\/em><\/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-<br \/>\nmaterjalile:<\/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 \/>\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: #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>\n<h2 style=\"padding-left: 5px;\"><span style=\"color: #dcc900;\">Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/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>Geenid:<\/strong><\/td>\n<td><em>MTM1, MTMR<\/em>1<\/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>MLPA<\/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>4-6 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-<br \/>\nmaterjalile:<\/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 \/>\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: #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>Kaasas\u00fcndinud- ja distaalse m\u00fcopaatiaga seotud geenide sekveneerimine Geenid: ACTA1, ANO5, BAG3, BIN1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A3, COL12A1, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, KLHL40, KLHL41, LDB3, LMOD3, MATR3, MEGF10, MICU1, MTM1, MTMR14, MYF6, MYH7, MYOT, NEB, RYR1, SELENON, STAC3, SQSTM1, TIA1, TNNT1, TPM2, TPM3, TTN, VCP Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). [&hellip;]<\/p>\n","protected":false},"author":2,"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-21161","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"Kaasas\u00fcndinud- ja distaalse m\u00fcopaatiaga seotud geenide sekveneerimine\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<meta name=\"keywords\" content=\"distaalne m\u00fcopaatia,m\u00fcopaatia,ngs paneel\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/kaasasundinud-muopaatia-ja-distaalne-muopaatia\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO (AIOSEO) 4.9.10\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/kaasasundinud-muopaatia-ja-distaalne-muopaatia\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/#listItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/#listItem\",\"name\":\"Asper Neurogenetics testid\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/#listItem\",\"position\":2,\"name\":\"Asper Neurogenetics testid\",\"item\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/kaasasundinud-muopaatia-ja-distaalne-muopaatia\\\/#listItem\",\"name\":\"Kaasas\\u00fcndinud m\\u00fcopaatia ja distaalne m\\u00fcopaatia\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/#listItem\",\"name\":\"Home\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/kaasasundinud-muopaatia-ja-distaalne-muopaatia\\\/#listItem\",\"position\":3,\"name\":\"Kaasas\\u00fcndinud m\\u00fcopaatia ja distaalne m\\u00fcopaatia\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-neurogenetics-testid\\\/#listItem\",\"name\":\"Asper Neurogenetics testid\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/#organization\",\"name\":\"Asper Biogene - 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