{"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":"

N\u00e4gemisn\u00e4rvi atroofiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nOPA1<\/em>, OPA3<\/em>, TMEM126A<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (NGS).
\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
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n6-9\u00a0n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1\u00a0\u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\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

\n\n\n\n
Tellimine:<\/strong><\/td>\nProovimaterjal\u00a0saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

OPA1<\/em> geeni valitud regioonide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nOPA1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nValitud regioonide sekveneerimine (NGS)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n2-4 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\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

\n\n\n\n
Tellimine:<\/strong><\/td>\nProovimaterjal\u00a0saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

OPA1<\/em> geeni deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nOPA1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nMLPA<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg:<\/strong><\/td>\n4-6 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 ng\/\u00b5l
\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

\n\n\n\n
Tellimine:<\/strong><\/td>\nProovimaterjal\u00a0saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

N\u00e4idustused geenitesti tegemiseks:<\/strong><\/p>\n

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Geneetiline n\u00f5ustamine<\/li>\n
  3. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    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":"

    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 […]<\/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":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/21246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=21246"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/21246\/revisions"}],"predecessor-version":[{"id":24845,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/21246\/revisions\/24845"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/11406"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=21246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}