{"id":22854,"date":"2018-09-26T16:06:01","date_gmt":"2018-09-26T13:06:01","guid":{"rendered":"https:\/\/www.asperbio.com\/?page_id=22854"},"modified":"2020-11-19T12:28:43","modified_gmt":"2020-11-19T10:28:43","slug":"ehlers-danlos-sundroomiga-seotud-geenide-sekveneerimine","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-cardiogenetics-testid\/ehlers-danlos-sundroomiga-seotud-geenide-sekveneerimine\/","title":{"rendered":"Ehlers-Danlos s\u00fcndroomiga seotud geenide sekveneerimine"},"content":{"rendered":"

Ehlers-Danlos s\u00fcndroomiga seotud
\ngeenide sekveneerimine<\/span><\/h2>\n
\n\n\n\n
Geenid:<\/strong><\/td>\nADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469<\/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 geneetiliseks testimiseks<\/strong>:<\/p>\n

1. Kliinilise diagnoosi kinnitamine
\n2. Ehlers-Danlos s\u00fcndroomi erinevate vormide ja teiste geneetiliselt\/fenot\u00fc\u00fcpiliselt seotud haiguste diferentsiaaldiagnostika
\n3. Prenataalne diagnostika teadaoleva perekondliku mutatsiooni suhtes
\n4. Geneetiline n\u00f5ustamine<\/p>\n

Ehlers-Danlos s\u00fcndroom<\/strong> (EDS) h\u00f5lmab gruppi haruldasi sidekoe haigusi, mille puhul on haigusest haaratud nahk, luud, veresooned, aga ka teised organid ja koed.\u00a0Spetsiifilised s\u00fcmptomid s\u00f5ltuvad EDS t\u00fc\u00fcbist, enamike haigusvormide puhul esineb ebatavaliselt suur liigeste liikuvus. Paljudel EDS-ga patsientidel on pehme, velvetjas nahk, mis on v\u00e4ga veniv ja \u00f5rn. Veresoontega seotud vorm p\u00f5hjustab veritsemist, s\u00fcdameklapi vorm tekitab t\u00f5siseid s\u00fcdameklapi probleeme, k\u00fcfoskolioosiga patsientidel areneb tugev selja kumerus.<\/p>\n

Testiga on kaetud haiguse eri vormide geneetilised p\u00f5hjused ja suur osa geneetiliselt\/fenot\u00fc\u00fcpiliselt seotud haigusi.<\/p>\n

S\u00f5ltuvalt EDS vormist v\u00f5ib haigus p\u00e4randuda autosoom-dominantsel v\u00f5i autosoom-retsessiivsel teel.<\/p>\n

EDS k\u00f5ikide vormide esinemissageduseks \u00fcldpopulatsioonis on hinnatud 1:2500-5000. Sagedasemad on h\u00fcpermobiilne ja klassikaline vorm, esinemissagedusega vastavalt 1:5000-20000 ja 1:20000-40000. Teised vormid on v\u00e4ga haruldased.<\/p>","protected":false},"excerpt":{"rendered":"

Ehlers-Danlos s\u00fcndroomiga seotud geenide sekveneerimine Geenid: ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline anal\u00fc\u00fcs (CNV). CNV […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14537,"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-22854","page","type-page","status-publish","hentry"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/22854","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=22854"}],"version-history":[{"count":3,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/22854\/revisions"}],"predecessor-version":[{"id":26614,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/22854\/revisions\/26614"}],"up":[{"embeddable":true,"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/pages\/14537"}],"wp:attachment":[{"href":"https:\/\/www.asperbio.com\/et\/wp-json\/wp\/v2\/media?parent=22854"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}