{"id":14797,"date":"2016-03-09T14:03:06","date_gmt":"2016-03-09T14:03:06","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14797"},"modified":"2022-03-25T11:02:16","modified_gmt":"2022-03-25T09:02:16","slug":"smith-lemli-opitz-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/smith-lemli-opitz-sundroom\/","title":{"rendered":"Smith-Lemli-Opitzi s\u00fcndroom"},"content":{"rendered":"

Smith-Lemli-Opitzi s\u00fcndroomiga seotud DHCR7\u00a0geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nDHCR7<\/i><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nKodeeriva piirkonna sekveneerimine (Sanger)<\/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-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 pikkusmarkeri juuresolekul 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 pereliikmetel<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n
  4. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    Smith-Lemli-Opitzi s\u00fcndroom<\/strong> (SLOS)<\/strong> on autosoom-retsessiivselt p\u00e4randuv hulgiv\u00e4\u00e4rarendite s\u00fcndroom, mille aluseks on kolesterooli s\u00fcnteesi defekt \u2212 ens\u00fc\u00fcmi 7-deh\u00fcdrokolesterool reduktaasi puudulikkus. S\u00fcndroomi iseloomustab \u00fcsasisene ja ka s\u00fcnnij\u00e4rgne kasvupeetus, m\u00f5\u00f5dukas kuni raske vaimne alaareng, v\u00e4\u00e4rarendid mitmetes organs\u00fcsteemides (s\u00fcdame-veresoonkond, urogenitaal-, gastrointestinaal- ja keskn\u00e4rvis\u00fcsteem). Haigetel on iseloomulik v\u00e4limus: esineb ptoos, pol\u00fcdakt\u00fc\u00fclia, II ja III varba s\u00fcndakt\u00fc\u00fclia m\u00f5lemal jalal.<\/p>\n

    SLOS\u2019i esinemissagedus on 1 : 20 000 – 70 000.<\/p>\n

    SLOS on seotud mutatsioonidega DHCR7<\/em> geenis. Antud testiga m\u00e4\u00e4ratakse k\u00f5iki senikirjeldatud mutatsioone nimetatud geenis \u2212 kokku 121 mutatsiooni eksonites 3, 4, 5, 6, 7, 8, 9. Testi detektsiooni tase SLOS suhtes on 97%.<\/p>","protected":false},"excerpt":{"rendered":"

    Smith-Lemli-Opitzi s\u00fcndroomiga seotud DHCR7\u00a0geeni sekveneerimine Geen: DHCR7 Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 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 ng\/\u00b5l DNA saata toatemperatuuril v\u00f5i k\u00fclmutatuna. A260\/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14761,"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-14797","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14797","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=14797"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14797\/revisions"}],"predecessor-version":[{"id":28204,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14797\/revisions\/28204"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14761"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=14797"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}