{"id":14476,"date":"2016-02-01T08:37:13","date_gmt":"2016-02-01T08:37:13","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14476"},"modified":"2020-11-10T15:30:26","modified_gmt":"2020-11-10T13:30:26","slug":"waardenburgi-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-otogenetics-testid\/waardenburgi-sundroom\/","title":{"rendered":"Waardenburgi s\u00fcndroom"},"content":{"rendered":"

Waardenburgi s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nEDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR<\/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

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nMITF, PAX3, SOX10<\/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

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<\/li>\n
  3. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Waardenburgi s\u00fcndroom<\/strong>\u00a0(WS) on grupp geneetilisi haigusi, millele on iseloomulikud sensorineuraalne kuulmislangus;\u00a0iirise, juuste ning naha \u00a0pigmendi k\u00f5rvalekalded, mis esinevad koos dystopia canthorum<\/em>. Kuulmislangus on kaasas\u00fcndinud, reeglina mitteprogresseeruv, kas \u00fche- v\u00f5i kahepoolne ja sensorineuraalne.<\/p>\n

    Klassikaline juuste pigmendimuutus WS puhul on teismeeas ilmuv valge tukk. Iirise pigmendimuutus v\u00f5ib v\u00e4ljenduda kas t\u00e4ieliku v\u00f5i osalise heterokroomiana,\u00a0h\u00fcpoplastiliste v\u00f5i\u00a0erksiniste iiristena.<\/p>\n

    Waardenburgi s\u00fcndroomi esinemissagedus ca\u00a01:20,000-40,000.<\/p>\n

    WS alat\u00fc\u00fcpe eristatakse iseloomulike tunnuste j\u00e4rgi ja geneetiliselt. T\u00fc\u00fcbid I ja III on autosoom-dominantse, t\u00fc\u00fcbid II ja IV autosoom-retsessiivse \u00a0p\u00e4randumisega.<\/p>","protected":false},"excerpt":{"rendered":"

    Waardenburgi s\u00fcndroomiga seotud geenide sekveneerimine Geenid: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR 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 […]<\/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-14476","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14476","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=14476"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14476\/revisions"}],"predecessor-version":[{"id":26434,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14476\/revisions\/26434"}],"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=14476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}