{"id":16182,"date":"2016-04-22T11:13:50","date_gmt":"2016-04-22T10:13:50","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=16182"},"modified":"2018-12-12T16:42:17","modified_gmt":"2018-12-12T14:42:17","slug":"nijmegen-breakage-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-oncogenetics-testid\/nijmegen-breakage-sundroom\/","title":{"rendered":"Nijmegeni murru s\u00fcndroom"},"content":{"rendered":"

Nijmegeni murru s\u00fcndroomiga seotud NBN<\/em> geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nNBN<\/em><\/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

\u00a0<\/strong>1,5 \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<\/strong><\/span><\/a> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

NBN<\/em> geeni mutatsioonanal\u00fc\u00fcs<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nNBN<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Marker:<\/strong><\/td>\n1 (c.657_661delACAAA (p.Lys219AsnfsTer16))<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nSanger sekveneerimine<\/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

200 ng 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<\/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. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Nijmegeni murru\u00a0s\u00fcndroomile<\/strong>\u00a0(Nijmegen breakage syndrome<\/em>,\u00a0<\/strong>NBS) on iseloomulik progressiivne\u00a0mikrotsefaalia, korduvad hingamisteede infektsioonid, suurenenud risk v\u00e4hkkasvajate tekkeks, naistel esineb\u00a0enneaegne\u00a0munasarjade puudulikkus. T\u00e4iendavateks diagnostilisteks kriteeriumiteks on d\u00fcsmorfsed n\u00e4ojooned, intellektuaalsete v\u00f5imete langus, kasvu\u00a0pidurdumine ja l\u00fchike kasv.<\/p>\n

    Ligikaudu 40% patsientidest arenevad enne 20. eluaastat pahaloomulised kasvajad, nagu B- ja T-l\u00fcmfots\u00fctaarsed mitte-Hodgkini l\u00fcmfoomid, samuti soliidsed tuumorid.<\/p>\n

    NBS p\u00e4randub autosoom-retsessiivsel teel.<\/p>","protected":false},"excerpt":{"rendered":"

    Nijmegeni murru s\u00fcndroomiga seotud NBN geeni sekveneerimine Geenid: NBN 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) \u00a01,5 \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 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":16918,"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-16182","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/16182","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=16182"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/16182\/revisions"}],"predecessor-version":[{"id":23109,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/16182\/revisions\/23109"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/16918"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=16182"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}