{"id":20647,"date":"2017-10-16T11:58:36","date_gmt":"2017-10-16T08:58:36","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=20647"},"modified":"2020-06-16T16:33:42","modified_gmt":"2020-06-16T13:33:42","slug":"tangieri-haigus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/tangieri-haigus\/","title":{"rendered":"Tangieri haigus"},"content":{"rendered":"

Tangieri haigusega seotud\u00a0ABCA1<\/i>\u00a0geeni sekveneerimine<\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCA1<\/i><\/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>\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>:
\n1. Kliinilise diagnoosi kinnitamine
\n2. Diferentsiaaldiagnostika
\n3. Geneetiline n\u00f5ustamine<\/p>\n

Tangieri haigusele<\/strong> on iseloomulik h\u00fcpokolesteroleemia, \u00e4\u00e4rmiselt madal HDL-kolesterooli tase, m\u00f5\u00f5dukalt langenud LDL-kolesterooli tase ja t\u00f5usnud trigl\u00fctseriidide tase plasmas.
\nTangieri haiguse t\u00fc\u00fcpilisemad s\u00fcmptomid on h\u00fcperplastilised kollakas-oran\u017eid mandlid, hepatosplenomegaalia ja perifeerne neuropaatia. Harvem esinevateks t\u00fcsistusteks loetakse kornea l\u00e4bipaistmatust, mis tavaliselt n\u00e4gemist ei m\u00f5juta, varajased aterosklerootilised koronaararterite haigused ja m\u00f5\u00f5dukad hematoloogilised n\u00e4hud, nagu kerge trombots\u00fctopeenia, retikulots\u00fctoos, stomatots\u00fctoos v\u00f5i hemol\u00fc\u00fctiline aneemia.<\/p>\n

Tangieri haigus p\u00e4randub autosoom-retsessiivsel teel. Haiguse p\u00f5hjuseks on patogeenne variant ABCA1<\/strong><\/em> geenis<\/strong>. Levimus \u00fcldpopulatsioonis on 1:640000.<\/p>","protected":false},"excerpt":{"rendered":"

Tangieri haigusega seotud\u00a0ABCA1\u00a0geeni sekveneerimine Geenid: ABCA1 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: 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 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14537,"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-20647","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20647","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=20647"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20647\/revisions"}],"predecessor-version":[{"id":26025,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/20647\/revisions\/26025"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14537"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=20647"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}