{"id":7660,"date":"2025-11-18T12:55:21","date_gmt":"2025-11-18T11:55:21","guid":{"rendered":"https:\/\/semmelweis.hu\/bokayklinika\/?page_id=7660"},"modified":"2026-01-26T09:03:45","modified_gmt":"2026-01-26T08:03:45","slug":"genetika-laboratorium","status":"publish","type":"page","link":"https:\/\/semmelweis.hu\/bokayklinika\/betegellatas\/diagnosztikai-egysegeink\/genetika-laboratorium\/","title":{"rendered":"Genetika Laborat\u00f3rium"},"content":{"rendered":"
\n

Laborvezet\u0151:<\/strong>
\nDr. J\u00e1vorszky Eszter Gy\u00f6rgyi, PhD, klinikai biok\u00e9mikus<\/p>\n

Munkat\u00e1rsak:<\/strong>
\nN\u00e9methi Zar\u00e1nd, biol\u00f3gus
\nK\u00f6les T\u00edmea, biol\u00f3gus<\/p>\n<\/div>\n

A Genetika Laborat\u00f3riumban el\u00e9rhet\u0151 szolg\u00e1ltat\u00e1sok:<\/h3>\n
    \n
  1. Sanger szekven\u00e1l\u00e1s: egyedi g\u00e9nbe\u00e1ll\u00edt\u00e1sok, NGS valid\u00e1l\u00e1s \u00e9s szegreg\u00e1l\u00e1s.<\/li>\n
  2. QMPSF m\u00f3dszeren alapul\u00f3 k\u00f3piasz\u00e1m meghat\u00e1roz\u00e1s: els\u0151sorban olyan r\u00e9gi\u00f3kban, amelyeket az MLPA nem fed le. NGS, illetve CGH \u00e1ltal kimutatott del\u00e9ci\u00f3k\/duplik\u00e1ci\u00f3k valid\u00e1l\u00e1sa, csal\u00e1dtagok vizsg\u00e1lata.
    \nBe\u00e1ll\u00edtott leggyakoribb del\u00e9ci\u00f3k:
    \nVesebetegs\u00e9gek (NPHP1, HNF1B)
    \nAniridia (PAX6, WT1)
    \nIncontinentia pigmenti (IKBKG)<\/li>\n
  3. Panelszekven\u00e1l\u00e1s (NGS) k\u00f3piasz\u00e1m meghat\u00e1roz\u00e1ssal. A laborat\u00f3riumban a k\u00f6vetkez\u0151 panelok el\u00e9rhet\u0151ek:\n
      \n
    1. Alport szindr\u00f3ma<\/li>\n
    2. Tubulopathi\u00e1k<\/li>\n
    3. Ciszt\u00e1s vese<\/li>\n
    4. Nephronophthisis<\/li>\n
    5. Nephrosis szindr\u00f3ma<\/li>\n
    6. Cholestasis<\/li>\n
    7. \u00dajsz\u00fcl\u00f6ttkori anyagcserebetegs\u00e9gek<\/li>\n
    8. Kardiol\u00f3gia<\/li>\n
    9. Noonan szindr\u00f3ma<\/li>\n
    10. Marfan szindr\u00f3ma<\/li>\n
    11. Interstici\u00e1lis t\u00fcd\u0151betegs\u00e9gek<\/li>\n
    12. Ehlers-Danlos szindr\u00f3ma<\/li>\n
    13. \u00d6r\u00f6kletes sz\u00fcrkeh\u00e1lyog<\/li>\n
    14. Aniridia<\/li>\n
    15. Stickler szindr\u00f3ma<\/li>\n
    16. Anterior segment dysgenesis<\/li>\n
    17. Aortopathia<\/li>\n<\/ol>\n<\/li>\n
    18. Exomszekven\u00e1l\u00e1s (WES) k\u00f3piasz\u00e1m meghat\u00e1roz\u00e1ssal.<\/li>\n<\/ol>\n

      A laborat\u00f3rium a Semmelweis Egyetem Gyermekgy\u00f3gy\u00e1szati Klinika Genetikai Ambulanci\u00e1j\u00e1r\u00f3l fogad EDTA-s (lilakupakos) v\u00e9rmint\u00e1kat mind feln\u0151tt, mind pedig gyermekekt\u0151l preteszt tan\u00e1csad\u00e1st k\u00f6vet\u0151en.<\/p>\n

      Tov\u00e1bbi inform\u00e1ci\u00f3k a Genetika Ambulanci\u00e1r\u00f3l az al\u00e1bbi oldalon \u00e9rhet\u0151ek el: https:\/\/semmelweis.hu\/bokayklinika\/betegellatas\/jarobeteg-ellatas\/klinikai-genetikai-tanacsadas\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

      Laborvezet\u0151: Dr. J\u00e1vorszky Eszter Gy\u00f6rgyi, PhD, klinikai biok\u00e9mikus Munkat\u00e1rsak: N\u00e9methi Zar\u00e1nd, biol\u00f3gus K\u00f6les T\u00edmea, biol\u00f3gus A Genetika Laborat\u00f3riumban el\u00e9rhet\u0151 szolg\u00e1ltat\u00e1sok: Sanger szekven\u00e1l\u00e1s: egyedi g\u00e9nbe\u00e1ll\u00edt\u00e1sok, NGS valid\u00e1l\u00e1s \u00e9s szegreg\u00e1l\u00e1s. QMPSF m\u00f3dszeren alapul\u00f3 k\u00f3piasz\u00e1m meghat\u00e1roz\u00e1s: els\u0151sorban olyan r\u00e9gi\u00f3kban, amelyeket az MLPA nem fed le. NGS, illetve CGH \u00e1ltal kimutatott del\u00e9ci\u00f3k\/duplik\u00e1ci\u00f3k valid\u00e1l\u00e1sa, csal\u00e1dtagok vizsg\u00e1lata. Be\u00e1ll\u00edtott leggyakoribb del\u00e9ci\u00f3k: Vesebetegs\u00e9gek …<\/p>\n","protected":false},"author":102391,"featured_media":0,"parent":97,"menu_order":6,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-7660","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/7660","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/users\/102391"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/comments?post=7660"}],"version-history":[{"count":3,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/7660\/revisions"}],"predecessor-version":[{"id":7928,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/7660\/revisions\/7928"}],"up":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/pages\/97"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/media?parent=7660"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/categories?post=7660"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/bokayklinika\/wp-json\/wp\/v2\/tags?post=7660"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}