{"id":12324,"date":"2015-11-26T11:59:19","date_gmt":"2015-11-26T11:59:19","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=12324"},"modified":"2021-03-25T16:12:57","modified_gmt":"2021-03-25T14:12:57","slug":"askenazi-juutidel-levinud-parilikud-haigused","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-reprogenetics-testid-2\/askenazi-juutidel-levinud-parilikud-haigused\/","title":{"rendered":"A\u0161kenazi juutide populatsioonis levinud p\u00e4rilikud haigused"},"content":{"rendered":"

A\u0161kenazi juutide populatsioonis levinud p\u00e4rilike haigustega seotud geenide sekveneerimine <\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A<\/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\u00a0n\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 kasutamiseks:<\/strong><\/p>\n

    \n
  1. Kliinilise diagnoosi kinnitamine<\/li>\n
  2. Kandluse m\u00e4\u00e4ramine<\/li>\n
  3. Haiguse p\u00e4randumise\u00a0riski hindamine<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n
  5. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    A\u0161kenazi juutide<\/strong>\u00a0populatsioonis esinevad teatud\u00a0geneetilised haigused\u00a0k\u00f5rgema sagedusega. Geenitesti abil on v\u00f5imalik m\u00e4\u00e4rata mitmete populatsioonispetsiifiliste p\u00e4rilike haiguste kandlust ja samuti aitab geenianal\u00fc\u00fcs kinnitada diagnoosi.<\/p>\n

    Antud\u00a0geenitest\u00a0v\u00f5imaldab m\u00e4\u00e4rata sagedamini esinevaid mutatsioone, mis on seotud j\u00e4rgmiste geneetiliste haigustega: ts\u00fcstiline fibroos, Tay-Sachs\u2019i t\u00f5bi, Bloomi s\u00fcndroom, Canavani haigus, Niemann-Picki haigus, perekondlik d\u00fcsautonoomia, torsioond\u00fcstoonia, mukolipidoos IV, Fanconi aneemia, Gaucheri haigus, faktor XI defitsiitsus, gl\u00fckogeeni I ja III t\u00fc\u00fcpi salvestush\u00e4ire, vahtrasiirupi t\u00f5bi, mittes\u00fcndroomne p\u00e4rilik kuulmislangus, perekondlik vahemere palavik, alfa-1 antitr\u00fcpsiini puudulikkus, nemaliinm\u00fcopaatia, Usheri s\u00fcndroom 1F, perekondlik h\u00fcperinsulineemia, perekondlik h\u00fcperkolesteroleemia, lipoamiid h\u00fcdrogenaasi puudulikkus.<\/p>","protected":false},"excerpt":{"rendered":"

    A\u0161kenazi juutide populatsioonis levinud p\u00e4rilike haigustega seotud geenide sekveneerimine Geenid: ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11436,"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-12324","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/12324","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=12324"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/12324\/revisions"}],"predecessor-version":[{"id":27313,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/12324\/revisions\/27313"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/11436"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=12324"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}