{"id":7979,"date":"2014-04-16T11:58:13","date_gmt":"2014-04-16T10:58:13","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=7979"},"modified":"2019-08-27T11:30:38","modified_gmt":"2019-08-27T08:30:38","slug":"kolvikeste-kepikeste-dustroofia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/kolvikeste-kepikeste-dustroofia\/","title":{"rendered":"Kolvikeste-kepikeste d\u00fcstroofia"},"content":{"rendered":"

Kolvikeste-kepikeste d\u00fcstroofiaga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (v.a. ORF15), RPGRIP1, SEMA4A, TTLL5, UNC119<\/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\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

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

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Kandluse m\u00e4\u00e4ramine<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n
  4. Sporaadiliste haigusjuhtumite testimine<\/li>\n<\/ol>\n

    Kolvikeste-kepikeste d\u00fcstroofia<\/strong> on p\u00e4rilik reetina d\u00fcstroofia, mida iseloomustab kolvikeste ja kepikeste fotoretseptorite taandareng. Iseloomulikeks s\u00fcmptomiteks on v\u00e4rvitaju ja n\u00e4gemisteravuse halvenemine n\u00e4gemisv\u00e4lja keskosas. Haiguse s\u00fcvenedes kahaneb\u00a0 n\u00e4gemisteravus ka n\u00e4gemisv\u00e4lja perifeerses osas ning tekib progresseeruv kanapimedus. Haiguse levimus on 1 : 40 000.<\/p>\n

    Kolvikeste-kepikeste d\u00fcstroofia v\u00f5ib esineda nii mittes\u00fcndroomse vormina, kui ka osana erinevatest s\u00fcndroomidest, n\u00e4iteks Bardet-Biedli s\u00fcndroomist. Mittes\u00fcndroomne vorm on geneetiliselt v\u00e4ga heterogeenne, haiguse p\u00e4randumine v\u00f5ib toimuda autosoom-dominantsel<\/strong>, autosoom-retsessiivsel<\/strong>\u00a0v\u00f5i X-liitelisel\u00a0teel<\/strong>.<\/p>","protected":false},"excerpt":{"rendered":"

    Kolvikeste-kepikeste d\u00fcstroofiaga seotud geenide sekveneerimine Geenid: ABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (v.a. ORF15), RPGRIP1, SEMA4A, TTLL5, UNC119 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11406,"menu_order":6,"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-7979","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\t\t