{"id":8094,"date":"2014-04-23T10:56:39","date_gmt":"2014-04-23T09:56:39","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=8094"},"modified":"2021-11-05T14:51:09","modified_gmt":"2021-11-05T12:51:09","slug":"usheri-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/usheri-sundroom\/","title":{"rendered":"Usheri s\u00fcndroom"},"content":{"rendered":"

Usheri s\u00fcndroomiga seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABHD12,\u00a0ADGRV1 (GPR98),\u00a0CDH23, CIB2, CLRN1, COL4A6, DSPP (excluding exon 5), GIPC3, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G, WHRN (DFNB31)<\/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\u00a0\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<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs\u00a0<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nUSH2A, PCDH15<\/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

2 \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<\/a><\/strong><\/span> 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
  4. S\u00fcnnieelne diagnostika, kui perekondlik mutatsioon on teada<\/li>\n<\/ol>\n

    Usheri s\u00fcndroom<\/b> on autosoom-retsessiivselt p\u00e4randuv geneetiliselt heterogeenne haigus, mille s\u00fcmptomid v\u00f5ivad varieeruda suures ulatuses. Haigusele on iseloomulik pigmentretiniidi ja kurtuse koosesinemine, sageli on kahjustunud ka vestibulaarfunktsioon. Haiguse levimus on 3 \u2013 4 : 100 000.<\/p>\n

    Usheri s\u00fcndroomil<\/b> on leitud kolm erinevat kliinilist alat\u00fc\u00fcpi<\/b> (USH1, USH2, USH3) mis avalduvad erinevas vanuses.\u00a0USH1 alat\u00fc\u00fcbiga inimesed s\u00fcnnivad kurtidena ja neil on probleeme tasakaaluga. Esimesed m\u00e4rgid pigmentretiniidist \u2013 kanapimedus ja perifeerne n\u00e4gemine \u2013 ilmnevad juba varases teismeeas.<\/p>\n

    USH2 alat\u00fc\u00fcbiga vasts\u00fcndinuid iseloomustab m\u00f5\u00f5dukas v\u00f5i raske kuulmislangus, mis p\u00fcsib stabiilsena. Pigmentretiniidi s\u00fcmptomid ilmnevad tavaliselt kohe p\u00e4rast teismeiga. N\u00e4gemisega seotud probleemide s\u00fcvenemine toimub aeglasemalt kui USH1 alat\u00fc\u00fcbi puhul.<\/p>\n

    USH3 on harvaesinev haiguse alat\u00fc\u00fcp. USH3-ga s\u00fcndinud lapsed on tavaliselt normaalse kuulmisega v\u00f5i kerge kuulmislangusega. Nende n\u00e4gemise ja kuulmise kadu on progresseeruv ja see algab enamasti teismeeas. Lisaks eelnevale v\u00f5ib neil olla ka probleeme tasakaaluga.<\/p>","protected":false},"excerpt":{"rendered":"

    Usheri s\u00fcndroomiga seotud geenide sekveneerimine Geenid: ABHD12,\u00a0ADGRV1 (GPR98),\u00a0CDH23, CIB2, CLRN1, COL4A6, DSPP (excluding exon 5), GIPC3, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G, WHRN (DFNB31) 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\u00a0n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":11406,"menu_order":11,"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-8094","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8094","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=8094"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8094\/revisions"}],"predecessor-version":[{"id":28002,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/8094\/revisions\/28002"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/11406"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=8094"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}