{"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":"2026-09-16T10:45:21","modified_gmt":"2026-09-16T07:45:21","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 (v.a RPGR geeni ORF15 piirkond)<\/span><\/h2>\n
\n

Geenid:\u00a0<\/strong><\/p>\n\n\n\n
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, ROM1 RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n

Metoodika:<\/strong>Kodeeriva piirkonna sekveneerimine (NGS).<\/p>\n\n\n\n
Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanal\u00fc\u00fcsina, vastavalt hinnakirjale.<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n

Testi valmimisaeg<\/strong>:<\/strong>6-9 weeks<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/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

Tellimine:<\/strong>Proovimaterjal saata koos\u00a0saatekirjaga<\/a><\/strong><\/span>\u00a0Asper Biogene laborisse<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

Valitud regioonide sekveneerimine (ORF15 regioon)<\/span><\/h2>\n
\n

Geenid:<\/strong>RPGR<\/i>\u00a0geeni\u00a0ORF15 regioon ning\u00a0deletsioonid eksonites 15a ja 15b<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n

Metoodika:<\/strong>Valitud regioonide sekveneerimine (Sanger)<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n

Testi valmimisaeg<\/strong>:<\/strong>4-6 weeks<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/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

Tellimine:<\/strong>Proovimaterjal saata koos\u00a0saatekirjaga<\/a><\/strong><\/span>\u00a0Asper Biogene laborisse<\/p>\n\n\n\n
<\/td>\n<\/td>\n<\/td>\n<\/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 (v.a RPGR geeni ORF15 piirkond) Geenid:\u00a0 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":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t