{"id":14191,"date":"2016-01-25T13:14:03","date_gmt":"2016-01-25T13:14:03","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14191"},"modified":"2021-05-06T15:17:10","modified_gmt":"2021-05-06T12:17:10","slug":"sensorineuraalne-kuulmislangus","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-otogenetics-testid\/sensorineuraalne-kuulmislangus\/","title":{"rendered":"Sensorineuraalne kuulmislangus"},"content":{"rendered":"

Sensorineuraalse kuulmislangusega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nACTG1, ADGRV1, ATP2B2, ATP6V1B1, BSND, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS1, HGF, ILDR1, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MAN2B1, MARVELD2, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, PDZD7, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP (v.a. ekson 7), TRMU, USH2A, USH1C, USH1G, WFS1, WHRN<\/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 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\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<\/strong><\/span><\/a> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Valitud regioonide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nGJB2, GJB3, GJB6, KCNQ4, MYO7A, MYO15A, MT-RNR1, MT-TS1, SLC26A4, SLC26A5, TMC1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nValitud regioonide 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

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

GJB2 geeni sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nGJB2<\/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

300 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 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. S\u00fcndroomse ja mittes\u00fcndroomse kuulmislanguse m\u00e4\u00e4ramine molekulaarsel tasemel<\/li>\n
  3. Eristamaks erinevaid mittes\u00fcndroomse kuulmislanguse ja kurtuse vorme<\/li>\n
  4. Defineerimaks kuulmislanguse etioloogiat peale aminogl\u00fckosiidi ravi<\/li>\n
  5. Kandluse m\u00e4\u00e4ramine isikutel, kelle peres esineb emapoolset kuulmislangust<\/li>\n
  6. Kandluse m\u00e4\u00e4ramine isikutel, kelle suguv\u00f5sas on haigusseoseline mutatsioon teada<\/li>\n
  7. Geneetiline n\u00f5ustamine<\/li>\n
  8. S\u00fcnnieelne diagnostika<\/li>\n<\/ol>\n

    Kuulmislangus<\/strong> on k\u00f5ige sagedasem sensoorne haigus maailmas. Varajase ehk k\u00f5ne-eelse kuulmislanguse esinemissageduseks arvatakse 1\u20132 juhtu 1000 lapse kohta. Umbes pooltel juhtudest on kuulmislangus p\u00e4rilik. P\u00e4rilik kuulmislangus jaguneb s\u00fcndroomseks vormiks, mille korral kuulmislangus on seotud teiste elundite anomaaliatega ja mittes\u00fcndroomseks ehk isoleeritud vormiks. Kuni 80%-l kaasas\u00fcndinud p\u00e4riliku kuulmislangusega patsientidel on tegemist kuulmislanguse mittes\u00fcndroomse vormiga.<\/p>\n

    Oluline on imikute kuulmislanguse \u00f5igeaegne diagnostika, mille alusel saab v\u00f5imalikult vara alustada lapse rehabilitatsiooniga tema hilisema parema keelelise arengu huvides.<\/p>","protected":false},"excerpt":{"rendered":"

    Sensorineuraalse kuulmislangusega seotud geenide sekveneerimine Geenid: ACTG1, ADGRV1, ATP2B2, ATP6V1B1, BSND, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS1, HGF, ILDR1, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MAN2B1, MARVELD2, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14181,"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-14191","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14191","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=14191"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14191\/revisions"}],"predecessor-version":[{"id":27438,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14191\/revisions\/27438"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14181"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=14191"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}