{"id":28585,"date":"2023-01-06T00:37:17","date_gmt":"2023-01-05T22:37:17","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=28585"},"modified":"2023-01-06T00:38:03","modified_gmt":"2023-01-05T22:38:03","slug":"bardet-biedli-mckusick-kaufmani-borjeson-forssman-lehmanni-ja-alstromi-sundroom-ning-albrighti-parilik-osteodustroofia","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/bardet-biedli\/","title":{"rendered":"Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni- ja Alstromi s\u00fcndroom ning Albrighti p\u00e4rilik osteod\u00fcstroofia"},"content":{"rendered":"

Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni-, Alstr\u00f6mi s\u00fcndroomiga ja Albrighti p\u00e4riliku osteod\u00fcstroofiaga\u00a0seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nALMS1 (v.a. ekson 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9,\u00a0BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS,\u00a0MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP<\/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. \n
      \n
    1. Kliinilise diagnoosi kinnitamine<\/li>\n
    2. Kandluse m\u00e4\u00e4ramine<\/li>\n
    3. Geneetiline n\u00f5ustamine<\/li>\n
    4. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"

      Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni-, Alstr\u00f6mi s\u00fcndroomiga ja Albrighti p\u00e4riliku osteod\u00fcstroofiaga\u00a0seotud geenide sekveneerimine Geenid: ALMS1 (v.a. ekson 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9,\u00a0BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS,\u00a0MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, […]<\/p>\n","protected":false},"author":11,"featured_media":0,"parent":19236,"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-28585","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t