{"id":1443,"date":"2021-12-10T16:34:36","date_gmt":"2021-12-10T15:34:36","guid":{"rendered":"https:\/\/diagnostics.ibio.hu\/diagnostics-services\/inherited-disease-screening\/wes-wgs\/"},"modified":"2023-09-25T17:28:20","modified_gmt":"2023-09-25T16:28:20","slug":"wes-wgs","status":"publish","type":"page","link":"https:\/\/diagnostics.alima.hu\/en\/diagnostics-services\/inherited-disease-screening\/wes-wgs\/","title":{"rendered":"WES"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row row_height_percent=&#8221;0&#8243; back_color=&#8221;color-bg&#8221; overlay_alpha=&#8221;50&#8243; gutter_size=&#8221;0&#8243; column_width_percent=&#8221;100&#8243; shift_y=&#8221;0&#8243; z_index=&#8221;0&#8243; inverted_device_order=&#8221;yes&#8221; uncode_shortcode_id=&#8221;580269&#8243; el_class=&#8221;page-service&#8211;content&#8221; back_color_type=&#8221;uncode-palette&#8221;][vc_column column_width_percent=&#8221;100&#8243; gutter_size=&#8221;3&#8243; back_color=&#8221;color-xsdn&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;-3&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;sm&#8221; width=&#8221;2\/3&#8243; uncode_shortcode_id=&#8221;200884&#8243; back_color_type=&#8221;uncode-palette&#8221; el_class=&#8221;column-main&#8221;][vc_row_inner row_inner_height_percent=&#8221;0&#8243; overlay_alpha=&#8221;50&#8243; gutter_size=&#8221;3&#8243; shift_y=&#8221;0&#8243; z_index=&#8221;0&#8243; limit_content=&#8221;&#8221; uncode_shortcode_id=&#8221;658436&#8243; el_id=&#8221;general&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; gutter_size=&#8221;3&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/1&#8243; uncode_shortcode_id=&#8221;139056&#8243; back_color_type=&#8221;uncode-palette&#8221;][vc_custom_heading text_color=&#8221;color-pc&#8221; heading_semantic=&#8221;h4&#8243; text_size=&#8221;h4&#8243; text_weight=&#8221;700&#8243; uncode_shortcode_id=&#8221;191109&#8243; text_color_type=&#8221;uncode-palette&#8221;]<b>G\u00e9npanelek \u00e9s teljes exom szekven\u00e1l\u00e1s (WES)<\/b>[\/vc_custom_heading][uncode_list icon=&#8221;fa fa-check2&#8243; icon_color=&#8221;color-754309&#8243; uncode_shortcode_id=&#8221;174514&#8243; el_class=&#8221;module-list&#8221; icon_color_type=&#8221;uncode-palette&#8221;]<\/p>\n<ul>\n<li>K\u00fcl\u00f6nb\u00f6z\u0151 g\u00e9npaneljeink klinikai szempontb\u00f3l relev\u00e1ns \u00e9s j\u00f3v\u00e1hagyott g\u00e9neket tartalmaznak. Minden vizsg\u00e1latunk mag\u00e1ban foglal SNP \u00e9s del\u00e9ci\u00f3\/duplik\u00e1ci\u00f3 elemz\u00e9st is.<\/li>\n<li>Teljes exom szekven\u00e1l\u00e1s (whole exome sequencing, WES) javasolt abban az esetben, ha specifikus genetikai teszt nem \u00e1ll rendelkez\u00e9sre. A WES egy \u00e1tfog\u00f3 genetikai vizsg\u00e1lat, mely sor\u00e1n a genom teljes protein k\u00f3dol\u00f3 r\u00e9gi\u00f3j\u00e1ban bek\u00f6vetkezett DNS v\u00e1ltoz\u00e1sok ker\u00fclnek azonos\u00edt\u00e1sra.<\/li>\n<li>G\u00e9npanelek \u00e9s WES alkalmaz\u00e1sa javasolt abban<br \/>\naz esetben, ha<\/li>\n<\/ul>\n<p>[\/uncode_list][uncode_list icon=&#8221;fa fa-minus3&#8243; icon_color=&#8221;color-754309&#8243; uncode_shortcode_id=&#8221;176404&#8243; el_class=&#8221;module-list&#8221; icon_color_type=&#8221;uncode-palette&#8221;]<\/p>\n<ul>\n<li>a t\u00fcnetek \u00f6sszetettek \u00e9s nem specifikusak<\/li>\n<li>jelent\u0151s molekul\u00e1ris heterogenit\u00e1st mutat\u00f3\u00a0betegs\u00e9g gyan\u00faja mer\u00fcl fel<\/li>\n<li>fejl\u0151d\u00e9sneurol\u00f3giai zavar vizsg\u00e1lat\u00e1r\u00f3l van sz\u00f3, p\u00e9ld\u00e1ul szellemi fogyat\u00e9koss\u00e1g, fejl\u0151d\u00e9sbeli elmaradotts\u00e1g, vagy autizmus spektrum zavar<\/li>\n<\/ul>\n<p>[\/uncode_list][vc_single_image media=&#8221;761&#8243; media_width_percent=&#8221;34&#8243; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;133889&#8243;][\/vc_column_inner][\/vc_row_inner][vc_row_inner limit_content=&#8221;&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; position_vertical=&#8221;middle&#8221; gutter_size=&#8221;3&#8243; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; width=&#8221;2\/3&#8243; uncode_shortcode_id=&#8221;198478&#8243;][vc_custom_heading text_color=&#8221;color-pc&#8221; heading_semantic=&#8221;h4&#8243; text_size=&#8221;h4&#8243; text_weight=&#8221;700&#8243; uncode_shortcode_id=&#8221;146920&#8243; text_color_type=&#8221;uncode-palette&#8221;]Rare diseases[\/vc_custom_heading][uncode_list icon=&#8221;fa fa-check2&#8243; icon_color=&#8221;color-754309&#8243; uncode_shortcode_id=&#8221;199451&#8243; el_class=&#8221;module-list&#8221; icon_color_type=&#8221;uncode-palette&#8221;]<\/p>\n<ul>\n<li>Eur\u00f3p\u00e1ban ritka betegs\u00e9gnek min\u0151s\u00edtenek minden olyan betegs\u00e9get, aminek a prevalenci\u00e1ja kevesebb, mint 1:2000.<\/li>\n<li>A F\u00f6ld lakoss\u00e1g\u00e1nak kb. 6%-a \u00e9rintett a t\u00f6bb mint 8000 ritka betegs\u00e9g valamelyik\u00e9vel.<span class=\"Apple-converted-space\">\u00a0<\/span><\/li>\n<li>A ritka betegs\u00e9gek 70%-a genetikai eredet\u0171, t\u00f6bbs\u00e9g\u00fck WES sor\u00e1n detekt\u00e1lhat\u00f3.<\/li>\n<li>Naprak\u00e9sz, \u00e1tfog\u00f3 genetikai sz\u0171r\u00e9s n\u00e9lk\u00fcl ak\u00e1r hossz\u00fa, gy\u00f6trelmekkel teli \u00e9vek is eltelhetnek, mire a betegek a helyes diagn\u00f3zisukat k\u00e9zhez kapj\u00e1k.<\/li>\n<\/ul>\n<p>[\/uncode_list][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_single_image media=&#8221;763&#8243; media_width_percent=&#8221;100&#8243; uncode_shortcode_id=&#8221;134852&#8243;][\/vc_column_inner][\/vc_row_inner][vc_row_inner row_inner_height_percent=&#8221;0&#8243; overlay_alpha=&#8221;50&#8243; equal_height=&#8221;yes&#8221; gutter_size=&#8221;2&#8243; shift_y=&#8221;0&#8243; z_index=&#8221;0&#8243; limit_content=&#8221;&#8221; uncode_shortcode_id=&#8221;588312&#8243; el_id=&#8221;process&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; align_horizontal=&#8221;align_center&#8221; gutter_size=&#8221;2&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/3&#8243; uncode_shortcode_id=&#8221;740011&#8243; back_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;_1&#8243;][vc_single_image media=&#8221;1661&#8243; media_width_use_pixel=&#8221;yes&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;599788&#8243; media_width_pixel=&#8221;125&#8243;][vc_custom_heading heading_semantic=&#8221;h6&#8243; text_size=&#8221;h5&#8243; text_weight=&#8221;700&#8243; sub_lead=&#8221;small&#8221; uncode_shortcode_id=&#8221;158533&#8243; text_color_type=&#8221;uncode-palette&#8221; text_color_solid=&#8221;#ff0000&#8243; subheading=&#8221;info@ibioscience.hu<br \/>\n+36 70 674 6611&#8243;]CONTACT[\/vc_custom_heading][vc_icon display=&#8221;absolute-center&#8221; icon=&#8221;fa fa-chevron-right&#8221; icon_color=&#8221;color-pc&#8221; size=&#8221;fa-2x&#8221; uncode_shortcode_id=&#8221;273926&#8243; icon_color_type=&#8221;uncode-palette&#8221;][\/vc_icon][\/vc_column_inner][vc_column_inner column_width_percent=&#8221;100&#8243; align_horizontal=&#8221;align_center&#8221; gutter_size=&#8221;2&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/3&#8243; uncode_shortcode_id=&#8221;158610&#8243; back_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;_2&#8243;][vc_single_image media=&#8221;1663&#8243; media_width_use_pixel=&#8221;yes&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;955855&#8243; media_width_pixel=&#8221;125&#8243;][vc_custom_heading heading_semantic=&#8221;h6&#8243; text_size=&#8221;h5&#8243; text_weight=&#8221;700&#8243; sub_lead=&#8221;small&#8221; uncode_shortcode_id=&#8221;142815&#8243; subheading=&#8221;DNA\/RNA, liquid or tumor<br \/>\nbiopsy sample&#8221; text_color_type=&#8221;uncode-palette&#8221; text_color_solid=&#8221;#ff0000&#8243;]SAMPLE DISPATCH[\/vc_custom_heading][vc_icon display=&#8221;absolute-center&#8221; icon=&#8221;fa fa-chevron-right&#8221; icon_color=&#8221;color-pc&#8221; size=&#8221;fa-2x&#8221; uncode_shortcode_id=&#8221;155796&#8243; icon_color_type=&#8221;uncode-palette&#8221;][\/vc_icon][\/vc_column_inner][vc_column_inner column_width_percent=&#8221;100&#8243; align_horizontal=&#8221;align_center&#8221; gutter_size=&#8221;2&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/3&#8243; uncode_shortcode_id=&#8221;172964&#8243; back_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;_3&#8243;][vc_single_image media=&#8221;1665&#8243; media_width_use_pixel=&#8221;yes&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;895960&#8243; media_width_pixel=&#8221;125&#8243;][vc_custom_heading heading_semantic=&#8221;h6&#8243; text_size=&#8221;h5&#8243; text_weight=&#8221;700&#8243; sub_lead=&#8221;small&#8221; uncode_shortcode_id=&#8221;120786&#8243; subheading=&#8221;paired-end 150 bp<br \/>\nsequencing&#8221;]SAMPLE PROCESSING[\/vc_custom_heading][vc_icon display=&#8221;absolute-center&#8221; icon=&#8221;fa fa-chevron-down&#8221; icon_color=&#8221;color-pc&#8221; size=&#8221;fa-2x&#8221; uncode_shortcode_id=&#8221;110992&#8243; icon_color_type=&#8221;uncode-palette&#8221;][\/vc_icon][\/vc_column_inner][\/vc_row_inner][vc_row_inner row_inner_height_percent=&#8221;0&#8243; overlay_alpha=&#8221;50&#8243; equal_height=&#8221;yes&#8221; gutter_size=&#8221;2&#8243; shift_y=&#8221;-1&#8243; z_index=&#8221;0&#8243; inverted_device_order=&#8221;yes&#8221; limit_content=&#8221;&#8221; uncode_shortcode_id=&#8221;345722&#8243; el_class=&#8221;inner-section-second&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; align_horizontal=&#8221;align_center&#8221; gutter_size=&#8221;2&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/3&#8243; uncode_shortcode_id=&#8221;400475&#8243; back_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;_5&#8243;][vc_single_image media=&#8221;1669&#8243; media_width_use_pixel=&#8221;yes&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;193162&#8243; media_width_pixel=&#8221;125&#8243;][vc_custom_heading heading_semantic=&#8221;h6&#8243; text_size=&#8221;h5&#8243; text_weight=&#8221;700&#8243; sub_lead=&#8221;small&#8221; uncode_shortcode_id=&#8221;885130&#8243; subheading=&#8221;categorization of variants<br \/>\nbased on guidelines<br \/>\n(pathogenic, likely<br \/>\npathogenic, VUS etc.)&#8221; text_color_type=&#8221;uncode-palette&#8221; text_color_solid=&#8221;#ff0000&#8243;]REPORT[\/vc_custom_heading][vc_icon display=&#8221;absolute-center&#8221; icon_color=&#8221;color-xsdn&#8221; size=&#8221;fa-2x&#8221; uncode_shortcode_id=&#8221;197354&#8243; icon_color_type=&#8221;uncode-palette&#8221;][\/vc_icon][\/vc_column_inner][vc_column_inner column_width_percent=&#8221;100&#8243; align_horizontal=&#8221;align_center&#8221; gutter_size=&#8221;2&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/3&#8243; uncode_shortcode_id=&#8221;993573&#8243; back_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;_4&#8243;][vc_single_image media=&#8221;1667&#8243; media_width_use_pixel=&#8221;yes&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;139476&#8243; media_width_pixel=&#8221;125&#8243;][vc_custom_heading heading_semantic=&#8221;h6&#8243; text_size=&#8221;h5&#8243; text_weight=&#8221;700&#8243; sub_lead=&#8221;small&#8221; uncode_shortcode_id=&#8221;204203&#8243; subheading=&#8221;bioinformatic analysis,<br \/>\nvariant identif ication<br \/>\nand annotation&#8221; text_color_type=&#8221;uncode-palette&#8221; text_color_solid=&#8221;#ff0000&#8243;]GENETIC ANALYSIS[\/vc_custom_heading][vc_icon display=&#8221;absolute-center&#8221; icon=&#8221;fa fa-chevron-left&#8221; icon_color=&#8221;color-pc&#8221; size=&#8221;fa-2x&#8221; uncode_shortcode_id=&#8221;142595&#8243; icon_color_type=&#8221;uncode-palette&#8221;][\/vc_icon][\/vc_column_inner][\/vc_row_inner][vc_row_inner row_inner_height_percent=&#8221;0&#8243; overlay_alpha=&#8221;50&#8243; gutter_size=&#8221;3&#8243; shift_y=&#8221;0&#8243; z_index=&#8221;0&#8243; limit_content=&#8221;&#8221; uncode_shortcode_id=&#8221;130346&#8243; el_id=&#8221;method&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; gutter_size=&#8221;3&#8243; back_color=&#8221;color-lxmt&#8221; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; radius=&#8221;xl&#8221; width=&#8221;1\/1&#8243; uncode_shortcode_id=&#8221;139056&#8243; back_color_type=&#8221;uncode-palette&#8221;][vc_custom_heading text_color=&#8221;color-pc&#8221; heading_semantic=&#8221;h4&#8243; text_size=&#8221;h4&#8243; text_weight=&#8221;700&#8243; separator=&#8221;yes&#8221; uncode_shortcode_id=&#8221;132689&#8243; text_color_type=&#8221;uncode-palette&#8221;]Method[\/vc_custom_heading][uncode_list icon=&#8221;fa fa-check2&#8243; icon_color=&#8221;color-754309&#8243; uncode_shortcode_id=&#8221;394017&#8243; el_class=&#8221;module-list&#8221; icon_color_type=&#8221;uncode-palette&#8221;]<\/p>\n<ul>\n<li>Kiindul\u00e1si anyag: izol\u00e1lt genomi DNS vagy \u00a0EDTA-s cs\u0151ben k\u00fcld\u00f6tt perif\u00e9ri\u00e1s v\u00e9rminta.<\/li>\n<li>Az exonok teljes k\u00f3dol\u00f3 r\u00e9gi\u00f3j\u00e1nak \u00e9s a 3\u2019\/5\u2019 UTR r\u00e9gi\u00f3k szekven\u00e1l\u00e1sa.<\/li>\n<li>Egyedi nukleotid elt\u00e9r\u00e9sek (SNV), r\u00f6vid inzerci\u00f3k, del\u00e9ci\u00f3k \u00e9s k\u00f3piasz\u00e1m elt\u00e9r\u00e9sek (CNV)\u00a0azonos\u00edt\u00e1sa.<\/li>\n<li>Vari\u00e1nsok klasszifik\u00e1ci\u00f3ja \u00e9s annot\u00e1ci\u00f3ja (pl.\u00a0ClinVar, COSMIC, HGMD, dbSNP, Varsome) \u00e9s klinikai eredm\u00e9nyk\u00f6zl\u00e9s.<\/li>\n<\/ul>\n<p>[\/uncode_list][vc_single_image media=&#8221;767&#8243; media_width_percent=&#8221;50&#8243; media_ratio=&#8221;five-four&#8221; alignment=&#8221;center&#8221; uncode_shortcode_id=&#8221;167659&#8243;][\/vc_column_inner][\/vc_row_inner][vc_custom_heading text_color=&#8221;color-pc&#8221; heading_semantic=&#8221;h4&#8243; text_size=&#8221;h4&#8243; text_weight=&#8221;700&#8243; separator=&#8221;yes&#8221; uncode_shortcode_id=&#8221;154380&#8243; text_color_type=&#8221;uncode-palette&#8221; el_id=&#8221;downloads&#8221;]Downloadable materials[\/vc_custom_heading][vc_row_inner row_inner_height_percent=&#8221;0&#8243; overlay_alpha=&#8221;50&#8243; gutter_size=&#8221;2&#8243; shift_y=&#8221;0&#8243; z_index=&#8221;0&#8243; limit_content=&#8221;&#8221; uncode_shortcode_id=&#8221;642287&#8243; el_id=&#8221;downloads&#8221;][vc_column_inner column_width_percent=&#8221;100&#8243; gutter_size=&#8221;2&#8243; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; z_index=&#8221;0&#8243; medium_width=&#8221;0&#8243; mobile_width=&#8221;0&#8243; width=&#8221;1\/1&#8243; uncode_shortcode_id=&#8221;702713&#8243;][vc_single_image media=&#8221;1751&#8243; media_width_percent=&#8221;100&#8243; shape=&#8221;img-round&#8221; shadow=&#8221;yes&#8221; shadow_weight=&#8221;sm&#8221; uncode_shortcode_id=&#8221;134584&#8243;][vc_button button_color=&#8221;color-pm-d&#8221; radius=&#8221;btn-round&#8221; wide=&#8221;yes&#8221; hover_fx=&#8221;full-colored&#8221; border_width=&#8221;0&#8243; icon_position=&#8221;right&#8221; scale_mobile=&#8221;no&#8221; button_color_type=&#8221;uncode-palette&#8221; uncode_shortcode_id=&#8221;141115&#8243; icon=&#8221;fa fa-download5&#8243; link=&#8221;url:https%3A%2F%2Fdiagnostics.ibio.hu%2Fwp-content%2Fuploads%2F2023%2F09%2FWES_EN-1.pdf&#8221;]WES ENGLISH[\/vc_button][\/vc_column_inner][\/vc_row_inner][\/vc_column][vc_column column_width_percent=&#8221;100&#8243; gutter_size=&#8221;3&#8243; overlay_alpha=&#8221;50&#8243; shift_x=&#8221;0&#8243; shift_y=&#8221;0&#8243; shift_y_down=&#8221;0&#8243; 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