{"id":14370,"date":"2016-01-29T09:00:34","date_gmt":"2016-01-29T09:00:34","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14370"},"modified":"2021-06-08T11:42:55","modified_gmt":"2021-06-08T08:42:55","slug":"stickleri-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-otogenetics-testid\/stickleri-sundroom\/","title":{"rendered":"Stickleri s\u00fcndroom"},"content":{"rendered":"

Stickleri s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nCOL2A1,\u00a0COL11A1,\u00a0COL11A2, COL9A1, COL9A2, COL9A3<\/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 n\u00e4dalat<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
N\u00f5uded proovi-materjalile:<\/strong><\/td>\n2-4 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
\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 saata koos saatekirjaga<\/strong><\/span><\/a> 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. Kandluse m\u00e4\u00e4ramine pereliikmetel<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Stickleri s\u00fcndroom<\/strong>\u00a0on grupp p\u00e4rilikke haigusi, mis m\u00f5jutavad\u00a0sidekude. Stickleri s\u00fcndroomile on iseloomulikud okulaarsed k\u00f5rvalekalded, iseloomulik n\u00e4okuju, kuulmislangus, skeletis\u00fcsteemi h\u00e4lbed ja liigesteprobleemid.<\/p>\n

    Okulaarsete k\u00f5rvalekallete hulka v\u00f5ivad kuuluda m\u00fcoopia, katarakt, vitreoretinaalne v\u00f5i korioretinaalne degeneratsioon\u00a0ja v\u00f5rkkesta irdumine. Kuulmislangus v\u00f5ib olla nii\u00a0konduktiivne kui sensorineuraalne. Patsientidele on\u00a0iseloomulik lameda n\u00e4oga profiil, mille p\u00f5hjustajaks keskn\u00e4o anomaaliad ja suulael\u00f5he.<\/p>\n

    Stickleri s\u00fcndroom<\/strong> p\u00e4randub autosoom dominantsel v\u00f5i autosoom retsessiivsel teel. Stikleri s\u00fcndroomi esineb ca 7,500 – 9,000 vasts\u00fcndinul.<\/p>","protected":false},"excerpt":{"rendered":"

    Stickleri s\u00fcndroomiga seotud geenide sekveneerimine Geenid: COL2A1,\u00a0COL11A1,\u00a0COL11A2, COL9A1, COL9A2, COL9A3 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 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 \u00b5g DNA-d elueerituna TE, AE puhvris v\u00f5i steriilses vees, kontsentratsiooniga 100-250 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14181,"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-14370","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14370","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=14370"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14370\/revisions"}],"predecessor-version":[{"id":27565,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14370\/revisions\/27565"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14181"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=14370"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}