{"id":14352,"date":"2016-01-28T13:56:39","date_gmt":"2016-01-28T13:56:39","guid":{"rendered":"http:\/\/www.asperbio.com\/?page_id=14352"},"modified":"2019-08-27T15:11:32","modified_gmt":"2019-08-27T12:11:32","slug":"refsumi-tobi-ja-zellwegeri-sundroom","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-otogenetics-testid\/refsumi-tobi-ja-zellwegeri-sundroom\/","title":{"rendered":"Zellwegeri spektri haigused"},"content":{"rendered":"

Zellwegeri spektri haigustega seotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nPEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10,\u00a0PEX12, PEX13,\u00a0PEX14,\u00a0PEX16,\u00a0PEX19, PEX26, PHYH<\/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 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. Kandluse m\u00e4\u00e4ramine kui mutatsioon on teada<\/li>\n
  3. S\u00fcnnieelne diagnostika kui perekondlik mutatsioon on teada<\/li>\n
  4. Geneetiline n\u00f5ustamine<\/li>\n<\/ol>\n

    Zellwegeri s\u00fcndroom ja Refsumi t\u00f5bi<\/strong>\u00a0kuuluvad koos neonataalse adrenoleukod\u00fcstroofiaga\u00a0(NALD) <\/strong>kattuvate kliiniliste fenot\u00fc\u00fcpide t\u00f5ttu samasse gruppi. Zellwegeri s\u00fcndroomi peetakse neist k\u00f5ige t\u00f5sisemaks, NALD keskmiseks ja Refsumi t\u00f5be kergemaks vormiks.<\/p>\n

    Haigus v\u00e4ljendub enamasti juba vasts\u00fcndinu eas v\u00f5i hilisemas lapsep\u00f5lves ning h\u00f5lmab endas h\u00fcpotooniat, iseloomulikku n\u00e4okolju kuju\u00a0(lamedad n\u00e4ojooned, laialt\u00a0avatud l\u00f5gemed ja kolju\u00f5mblused, lai ninajuur), s\u00f6\u00f6misraskusi ja maksapuudulikkust. Vanemate laste puhul v\u00f5ib t\u00e4heldada sensorineuraalset kuulmislangust, v\u00f5rkkesta d\u00fcstroofiat ja arengumahaj\u00e4\u00e4must. Kaasneda v\u00f5ivad ka skeletis\u00fcsteemi h\u00e4lbed, adrenaalpuudulikkus, episoodiline hemorraagia,\u00a0koljusisene verejooks\u00a0ja h\u00fc\u00fcbimish\u00e4ired.<\/p>\n

    Zellwegeri spektri haigused p\u00e4randuvad\u00a0autosoom retsessiivsel<\/strong>\u00a0teel. Nende esinemissagedus on 1:50,000.<\/p>","protected":false},"excerpt":{"rendered":"

    Zellwegeri spektri haigustega seotud geenide sekveneerimine Geenid: PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10,\u00a0PEX12, PEX13,\u00a0PEX14,\u00a0PEX16,\u00a0PEX19, PEX26, PHYH 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 n\u00e4dalat N\u00f5uded proovi-materjalile: 2-4 ml t\u00e4isverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 \u00b5g DNA-d elueerituna TE, […]<\/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-14352","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14352","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=14352"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14352\/revisions"}],"predecessor-version":[{"id":24500,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14352\/revisions\/24500"}],"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=14352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}