{"id":29386,"date":"2025-01-13T16:55:59","date_gmt":"2025-01-13T14:55:59","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=29386"},"modified":"2025-01-13T17:38:55","modified_gmt":"2025-01-13T15:38:55","slug":"pigmentretiniit","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-ophthalmics-testid\/pigmentretiniit\/","title":{"rendered":"Pigmentretiniidid"},"content":{"rendered":"

Pigmentretiniidid: ADRP, ARRP, XLRP (sh RPGR geeni ORF15 piirkond)<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nABCA4, AIPL1, ARL6, BEST1, PCARE(C2orf71),CFAP418(C8ORF37), CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1,
\nCRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, KLHL7, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL,
\nOFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO,
\nRLBP1, ROM1 RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513<\/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>:<\/strong><\/td>\n6-9 weeks<\/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 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\u00a0saatekirjaga<\/a><\/strong><\/span>\u00a0Asper 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>\nRPGR<\/i>\u00a0geeni\u00a0ORF15 regioon ning\u00a0deletsioonid eksonites 15a ja 15b<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Metoodika:<\/strong><\/td>\nValitud regioonide sekveneerimine (Sanger)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n\n\n\n
Testi valmimisaeg<\/strong>:<\/strong><\/td>\n4-6 weeks<\/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 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\u00a0saatekirjaga<\/a><\/strong><\/span>\u00a0Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Deletsioonide\/duplikatsioonide anal\u00fc\u00fcs \u2013 vajadusel<\/span><\/h2>\n

NGS paneelanal\u00fc\u00fcsil leitud koopiaarvu muutus on soovitatav kinnitada del\/dup anal\u00fc\u00fcsiga, sellise leiu puhul teavitame lisaanal\u00fc\u00fcsi vajadusest<\/strong>.<\/p>\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

    Pigmentretiniit<\/strong>\u00a0on p\u00e4rilik silma v\u00f5rkkesta d\u00fcstroofia, mida iseloomustab fotoretseptorite j\u00e4rk-j\u00e4rguline h\u00e4vimine. Haiguse s\u00fcmptomiteks on n\u00e4gemisv\u00e4lja ahenemine, kanapimedus ja silmap\u00f5hja muutused. Pigmentretiniit p\u00e4randub tavaliselt autosoom-retsessiivsel teel. Seda esineb 84% k\u00f5igist haigusjuhtudest.\u00a0Autosoom-dominantset pigmentretiniiti\u00a0esineb 10% ja X-liitelist pigmentretiniiti esineb 6%. Pigmentretiniidi levimus on 1 : 3000 kuni \u00a01 : 5000.<\/p>","protected":false},"excerpt":{"rendered":"

    Pigmentretiniidid: ADRP, ARRP, XLRP (sh RPGR geeni ORF15 piirkond) Geenid: ABCA4, AIPL1, ARL6, BEST1, PCARE(C2orf71),CFAP418(C8ORF37), CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, KLHL7, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, […]<\/p>\n","protected":false},"author":11,"featured_media":0,"parent":11406,"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-29386","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/29386","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\/11"}],"replies":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/comments?post=29386"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/29386\/revisions"}],"predecessor-version":[{"id":29401,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/29386\/revisions\/29401"}],"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=29386"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}