{"id":8030,"date":"2014-04-17T13:57:44","date_gmt":"2014-04-17T12:57:44","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=8030"},"modified":"2021-11-05T14:48:15","modified_gmt":"2021-11-05T12:48:15","slug":"leberi-kaasasundinud-amauroos","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/leberi-kaasasundinud-amauroos\/","title":{"rendered":"Leberi kaasas\u00fcndinud amauroos"},"content":{"rendered":"

Leberi kaasas\u00fcndinud amauroosiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAIPL1, CABP4, CEP290 (<\/em>k.a. c.2991+1655A>G intronis), CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1<\/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-materjalile:<\/strong><\/td>\n2-4 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 saata koos saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, RDH12, RPE65, RPGRIP1<\/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-materjalile:<\/strong><\/td>\n2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

2 \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<\/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. Kandluse m\u00e4\u00e4ramine<\/li>\n
  3. Haiguse progressiooni hindamine<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n
  5. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    Leberi kaasas\u00fcndinud amauroos<\/b> on retinaalse d\u00fcstroofia \u00fcks raskemaid vorme, mis p\u00f5hjustab raskeid n\u00e4gemiskahjustusi v\u00f5i pimedaksj\u00e4\u00e4mist juba looteeas v\u00f5i lapse esimestel elukuudel. Haigus on geneetiliselt heterogeenne, p\u00e4randub peamiselt autosoom-retsessiivsel teel. Leberi s\u00fcndroomi all kannatab umbes 10-20% pimedatest lastest, mist\u00f5ttu on see haigus \u00fcks sagedasemaid pimedaksj\u00e4\u00e4mise p\u00f5hjustajaid lapseeas. S\u00fcmptomid v\u00f5ivad suuresti varieeruda, enamasti kaasnevad haigusega ka n\u00fcstagmid, ereda valguse kartus, iseloomulikud on s\u00fcgaval silmakoobastes asetsevad silmad.<\/p>\n

    Haiguse esinemissagedus on 1:50 000 – 1:100 000.<\/p>","protected":false},"excerpt":{"rendered":"

    Leberi kaasas\u00fcndinud amauroosiga seotud geenide sekveneerimine Geenid: AIPL1, CABP4, CEP290 (k.a. c.2991+1655A>G intronis), CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 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 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11406,"menu_order":8,"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-8030","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8030","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=8030"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8030\/revisions"}],"predecessor-version":[{"id":27999,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8030\/revisions\/27999"}],"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=8030"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}