{"id":21246,"date":"2018-01-25T12:04:25","date_gmt":"2018-01-25T10:04:25","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=21246"},"modified":"2019-11-21T16:53:46","modified_gmt":"2019-11-21T14:53:46","slug":"optiline-atroofia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/n%C3%A4gemisn%C3%A4rvi-atroofia\/","title":{"rendered":"Optiline atroofia"},"content":{"rendered":"<h2 style=\"padding-left: 5px;\"><span style=\"color: #f6a703;\">N\u00e4gemisn\u00e4rvi atroofiaga seotud geenide sekveneerimine<\/span><\/h2>\n<div class=\"sm_post_content\" style=\"background: url('https:\/\/www.asperbio.com\/wp-content\/uploads\/t-oranz.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>OPA1<\/em>, <em>OPA3<\/em>, <em>TMEM126A<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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: #f6a703; background-color: #f6a703; 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\u00a0n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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 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 olema detekteeritav \u00fche tervikliku b\u00e4ndina.<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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\u00a0saata koos <span style=\"color: #f6a703;\"><strong><a style=\"color: #f6a703;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Ophthalmics-saatekiri.doc\">saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; height: 2px; border: none; width: 100%;\" \/>\n<\/div>\n<h2 style=\"padding-left: 5px;\"><span style=\"color: #f6a703;\"><em>OPA1<\/em> geeni valitud regioonide sekveneerimine<\/span><\/h2>\n<div class=\"sm_post_content\" style=\"background: url('https:\/\/www.asperbio.com\/wp-content\/uploads\/t-oranz.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><em>OPA1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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>Valitud regioonide sekveneerimine (NGS)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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: #f6a703; background-color: #f6a703; 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<strong><br \/>\n<\/strong>DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. \u00a0A260\/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: #f6a703; background-color: #f6a703; 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\u00a0saata koos <span style=\"color: #f6a703;\"><strong><a style=\"color: #f6a703;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Ophthalmics-saatekiri.doc\">saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; height: 2px; border: none; width: 100%;\" \/>\n<\/div>\n<h2 style=\"padding-left: 5px;\"><span style=\"color: #f6a703;\"><em>OPA1<\/em> geeni deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n<div class=\"sm_post_content\" style=\"background: url('https:\/\/www.asperbio.com\/wp-content\/uploads\/t-oranz.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><em>OPA1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; 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: #f6a703; background-color: #f6a703; 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: #f6a703; background-color: #f6a703; 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<strong><br \/>\n<\/strong>DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. \u00a0A260\/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: #f6a703; background-color: #f6a703; 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\u00a0saata koos <span style=\"color: #f6a703;\"><strong><a style=\"color: #f6a703;\" href=\"https:\/\/www.asperbio.com\/wp-content\/uploads\/Asper-Ophthalmics-saatekiri.doc\">saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<hr style=\"color: #f6a703; background-color: #f6a703; height: 2px; border: none; width: 100%;\" \/>\n<\/div>\n<p><strong>N\u00e4idustused geenitesti tegemiseks:<\/strong><\/p>\n<ol>\n<li>Kliinilise diagnoosi kinnitamine<\/li>\n<li>Geneetiline n\u00f5ustamine<\/li>\n<li>S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n<p><strong>N\u00e4gemisn\u00e4rvi atroofia <\/strong>on p\u00e4rilik neuropaatia, mille puhul on tegemist kaasas\u00fcndinud n\u00e4gemisn\u00e4rvi kahjustusega. N\u00e4gemisn\u00e4rvi atroofia\u00a0v\u00f5ib p\u00e4randuda autosoom-dominantsel (sagedasem) v\u00f5i autosoom-retsessiivsel teel. Haigus algab enamasti juba 4-6 aasta vanuses, kuid haiguse aeglase arengu t\u00f5ttu v\u00f5idakse see diagnoosida alles hilises t\u00e4iskasvanueas n\u00e4gemisteravuse halvenemise t\u00f5ttu. Haiguse avaldumise p\u00f5hjuseks on n\u00e4gemisn\u00e4rvi progresseeruv kahjustus, mille puhul h\u00e4vivad reetina ganglionirakud. N\u00e4gemisn\u00e4rvi atroofia esinemissageduseks on 1 : 50 000.<\/p>","protected":false},"excerpt":{"rendered":"<p>N\u00e4gemisn\u00e4rvi atroofiaga seotud geenide sekveneerimine Geenid: OPA1, OPA3, TMEM126A Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9\u00a0n\u00e4dalat N\u00f5uded proovi- materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1\u00a0\u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l DNA [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11406,"menu_order":2,"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-21246","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=\"Optilise atroofiaga seotud geenide sekveneerimine\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<meta name=\"keywords\" content=\"autosoom dominantne optiline atroofia,autosoom retsessiivne optiline atroofia,ngs paneel,optiline atroofia\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/n%C3%A4gemisn%C3%A4rvi-atroofia\/\" \/>\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-ophthalmics-testid\\\/n%C3%A4gemisn%C3%A4rvi-atroofia\\\/#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-ophthalmics-testid\\\/#listItem\",\"name\":\"Asper Ophthalmics testid\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-ophthalmics-testid\\\/#listItem\",\"position\":2,\"name\":\"Asper Ophthalmics testid\",\"item\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-ophthalmics-testid\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-ophthalmics-testid\\\/n%C3%A4gemisn%C3%A4rvi-atroofia\\\/#listItem\",\"name\":\"Optiline atroofia\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/#listItem\",\"name\":\"Home\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-ophthalmics-testid\\\/n%C3%A4gemisn%C3%A4rvi-atroofia\\\/#listItem\",\"position\":3,\"name\":\"Optiline atroofia\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/asper-ophthalmics-testid\\\/#listItem\",\"name\":\"Asper Ophthalmics testid\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.asperbio.com\\\/et\\\/#organization\",\"name\":\"Asper Biogene - 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