{"id":23425,"date":"2019-01-14T15:19:42","date_gmt":"2019-01-14T13:19:42","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=23425"},"modified":"2020-12-21T16:11:09","modified_gmt":"2020-12-21T14:11:09","slug":"hermansky-pudlaki-sundroomiga-seotud-geenide-sekveneerimine","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-dermatology-testid\/hermansky-pudlaki-sundroomiga-seotud-geenide-sekveneerimine\/","title":{"rendered":"Hermansky-Pudlaki s\u00fcndroomiga seotud geenide sekveneerimine"},"content":{"rendered":"

Hermansky-Pudlaki s\u00fcndroomiga
\nseotud geenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geen:<\/strong><\/td>\nAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6<\/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 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 saatekirjaga<\/a><\/strong><\/span> Asper Biogene laborisse<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
\n<\/div>\n

N\u00e4idustused geenitesti tegemiseks:<\/strong>
\n1. Kliinilise diagnoosi kinnitamine
\n2. Hermansky-Pudlaki s\u00fcndroomi\u00a0t\u00fc\u00fcpide diferentsiaaldiagnostika
\n3. Prenataalne diagnostika teadaoleva perekondliku mutatsiooni korral
\n4. Geneetiline konsultatsioon<\/p>\n

Hermansky-Pudlaki s\u00fcndroom<\/strong> (HPS) h\u00f5lmab gruppi haruldasi, p\u00e4rilikke haigusi, mille p\u00f5hjuseks on biogeneesi h\u00e4ire l\u00fcsosoomiga seotud organellides. Kliinilisteks s\u00fcmptomiteks on okulokutaanne albinism<\/strong>, hemorraagiline diatees<\/strong>, m\u00f5nedel jutudel ka kopsufibroos<\/strong>, granulomatoosne koliit<\/strong>, immuunpuudulikkus<\/strong> v\u00f5i rasvalaadse aine (tseroidne lipofustsiin) ladestumine erinevates kudedes.\u00a0S\u00fcmptomite ja geneetiliste p\u00f5hjuste alusel eristatakse 11 erinevat haigust\u00fc\u00fcpi. 1. ja 4. t\u00fc\u00fcp on k\u00f5ige raskemad. Kopsufibroosiga seotud t\u00fc\u00fcbid on 1., 2. ja 4. Kergemate s\u00fcmtomitega t\u00fc\u00fcbid on 3., 5. ja 6. Teiste t\u00fc\u00fcpide s\u00fcmptomite ja raskusastmete kohta on v\u00e4hem teada.<\/p>\n

Testiga on kaetud haiguse teadaolevad geneetilised p\u00f5hjused.\u00a0HPS p\u00e4randub autosoom-retsessiivsel teel.<\/p>\n

HPS on haruldane enamikes populatsioonides, esinemissagedus maailmas on 1:500 000 kuni 1 000 000. T\u00fc\u00fcp 1 on sagedasem Puerto Rico loodeosas, kus sagedus on 1:1800. T\u00fc\u00fcp 3 on sagedasem Puerto Rico keskosas. Haigust p\u00f5devate inimeste suuremat hulka on t\u00e4heldatud mitmetes teisteski riikides nagu India, Jaapan, Inglismaa ja L\u00e4\u00e4ne-Euroopa. HPS on albinismi sageduselt kolmas vorm.<\/p>","protected":false},"excerpt":{"rendered":"

Hermansky-Pudlaki s\u00fcndroomiga seotud geenide sekveneerimine Geen: AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6 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":23406,"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-23425","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23425","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=23425"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23425\/revisions"}],"predecessor-version":[{"id":26745,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23425\/revisions\/26745"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/23406"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=23425"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}