{"id":26178,"date":"2020-10-02T11:47:31","date_gmt":"2020-10-02T08:47:31","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=26178"},"modified":"2020-10-02T12:00:41","modified_gmt":"2020-10-02T09:00:41","slug":"cornelia-de-lange-sundroomiga-seotud-geenide-sekveneerimine","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dysmorphology-testid\/cornelia-de-lange-sundroomiga-seotud-geenide-sekveneerimine\/","title":{"rendered":"Cornelia de Lange s\u00fcndroomiga seotud geenide sekveneerimine\u00a0"},"content":{"rendered":"

Cornelia de Lange s\u00fcndroomiga
\nseotud geenide sekveneerimine\u00a0<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nAFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC3, SMC1A, TAF6<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Mittekodeeriv ala:<\/strong><\/td>\nMittekodeerivad geneetilised variandid<\/a><\/strong><\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1\u00a0\u00b5g\u00a0DNA-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><\/span><\/strong> 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>\nNIPBL<\/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-
\nmaterjalile:<\/strong><\/td>\n		2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti)<\/p>\n

1\u00a0\u00b5g\u00a0DNA-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><\/span><\/strong> 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 perekonna naisliinis<\/li>\n
  3. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Cornelia\u00a0de\u00a0Lange s\u00fcndroomile\u00a0(CdLS)<\/strong> on omased iseloomulikud n\u00e4ojooned, kasvupeetus, arengupeetus, hirsutism ja j\u00e4semete anomaaliad. N\u00e4ojoontele on omased kokkukasvanud\u00a0kaarjad kulmud, pikad ripsmed, v\u00e4ike \u00fclespidi p\u00f6\u00f6rdunud nina ja\u00a0\u00f5hukesed\u00a0allapoole p\u00f6\u00f6rdunud huuled, suurte vahedega v\u00e4ikesed hambad ja\u00a0mikrotsefaalia.<\/p>\n

    T\u00e4iendavalt v\u00f5ib esineda s\u00fcdamerike, seedetrakti h\u00e4ired, kuulmislangus, m\u00fcoopia, krambihood,\u00a0suulael\u00f5he, kr\u00fcptorhism v\u00f5i h\u00fcpoplastilised genitaalid.<\/p>\n

    Haiguse klassikalise vormi esinemissagedus on hinnanguliselt 1 : 50 000. Cornelia de Lange s\u00fcndroom esineb\u00a0autosoom-dominantse\u00a0v\u00f5i\u00a0X-liitelisena.<\/p>","protected":false},"excerpt":{"rendered":"

    Cornelia de Lange s\u00fcndroomiga seotud geenide sekveneerimine\u00a0 Geenid: AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC3, SMC1A, TAF6 Mittekodeeriv ala: Mittekodeerivad geneetilised variandid 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 […]<\/p>\n","protected":false},"author":2,"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-26178","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/26178","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=26178"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/26178\/revisions"}],"predecessor-version":[{"id":26192,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/26178\/revisions\/26192"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/19236"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=26178"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}