{"id":222,"date":"2019-04-09T19:18:52","date_gmt":"2019-04-09T19:18:52","guid":{"rendered":"http:\/\/beta.progeriaresearch.org.php72-4.lan3-1.websitetestlink.com\/?page_id=222"},"modified":"2023-09-21T12:00:51","modified_gmt":"2023-09-21T16:00:51","slug":"the-prf-diagnostic-testing-program","status":"publish","type":"page","link":"https:\/\/www.progeriaresearch.org\/pt\/the-prf-diagnostic-testing-program\/","title":{"rendered":"Testes de diagn\u00f3stico"},"content":{"rendered":"

[et_pb_section fb_built=\u201d1\u2033 largura_completa=\u201dligado\u201d disabled_on=\u201ddesligado|desligado|desligado\u201d _builder_version=\u201d4.16\u2033 largura_completa_bottom=\u201d55px\u201d cor_completa_bottom=\u201d#29327a\u201d bloqueado=\u201ddesligado\u201d global_colors_info=\u201d{}\u201d][et_pb_cabe\u00e7alho_completo _builder_version=\u201d4.16\u2033 fonte_completa=\u201d||||||||\u201d title_font_size=\u201d55\u2033 background_color=\u201d#29327a\u201d background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/05\/parents-doctors-header-v4.jpg\u201d custom_padding=\u201d9vw||9vw||true\u201d custom_padding_tablet=\u201d\u201d custom_padding_phone=\u201d|56px||\u201d custom_padding_last_edited=\u201don|desktop\u201d title_font_size_tablet=\u201d45px\u201d title_font_size_phone=\u201d40px\u201d title_font_size_last_edited=\u201don|phone\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dposi\u00e7\u00e3o de fundo: centro 18% !importante;\u201d global_colors_info=\u201d{}\u201d]<\/p>\n

O diagn\u00f3stico PRF<\/h1>\n

Programa de testes<\/h1>\n

 <\/p>\n

[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialty=\u201don\u201d padding_left_1=\u201d35px\u201d padding_left_right_link_1=\u201dfalse\u201d module_class=\u201dhandprint-bg et_pb_specialty_fullwidth\u201d _builder_version=\u201d4.16\u2033 parallax=\u201don\u201d parallax_method=\u201doff\u201d inner_width=\u201d100%\u201d inner_width_tablet=\u201d100%\u201d inner_width_phone=\u201d\u201d inner_width_last_edited=\u201don|desktop\u201d inner_max_width=\u201d100%\u201d inner_max_width_tablet=\u201d100%\u201d inner_max_width_phone=\u201d\u201d inner_max_width_last_edited=\u201don|desktop\u201d custom_padding=\u201d0|0px|54px|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#8fd2ed\u201d make_fullwidth=\u201don\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_1\u2033 disabled_on=\u201don|on|off\u201d module_class=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 animation_style=\u201dfade\u201d z_index_tablet=\u201d500\u2033 border_width_right=\u201d5px\u201d saved_tabs=\u201dall\u201d global_colors_info=\u201d{}\u201d]
\n[\/et_pb_sidebar][\/et_pb_column][et_pb_column type=\u201d3_4\u2033 specialty_columns=\u201d3\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 _builder_version=\u201d4.16\u2033 custom_margin=\u201d|||\u201d custom_padding=\u201d|35px|0px|35px||true\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text disabled_on=\u201don|on|off\u201d admin_label=\u201dTexto + Imagem\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||70px|||\u201d custom_padding=\u201d|||\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|phone\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

\"\"A Progeria Research Foundation, em associa\u00e7\u00e3o com um laborat\u00f3rio de diagn\u00f3stico aprovado pela CLIA, tem o prazer de fornecer um teste diagn\u00f3stico baseado em DNA para crian\u00e7as com suspeita de S\u00edndrome de Hutchinson-Gilford Progeria (HGPS).<\/p>\n

Ap\u00f3s uma intensa busca cient\u00edfica, o gene para a S\u00edndrome de Hutchinson-Gilford Progeria (HGPS) foi encontrado em abril de 2003 por um grupo de pesquisadores trabalhando juntos atrav\u00e9s do PRF Genetics Consortium. Entre eles estavam pesquisadores proeminentes de institui\u00e7\u00f5es por todos os Estados Unidos, incluindo o National Institutes of Health, e a Diretora M\u00e9dica da PRF, Dra. Leslie Gordon. Com a descoberta do gene, agora \u00e9 poss\u00edvel fornecer um teste cient\u00edfico para diagnosticar definitivamente crian\u00e7as com Progeria.<\/p>\n

[\/et_pb_text][et_pb_image src=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/Megan-bearJun07.jpg\u201d align=\u201dcenter\u201d align_tablet=\u201dcenter\u201d align_last_edited=\u201don|desktop\u201d disabled_on=\u201d||on\u201d admin_label=\u201dImagem (somente para dispositivos m\u00f3veis)\u201d _builder_version=\u201d4.16\u2033 z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d align_phone=\u201dcenter\u201d][\/et_pb_image][et_pb_text disabled_on=\u201doff|off|on\u201d admin_label=\u201dTexto (somente para dispositivos m\u00f3veis)\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||70px|||\u201d custom_padding=\u201d|||\u201d tablet_de_preenchimento_personalizado=\u201d|0px||\u201d telefone_de_preenchimento_personalizado=\u201d\u201d \u00faltima_edi\u00e7\u00e3o_personalizada=\u201dno|telefone\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

A Progeria Research Foundation, em associa\u00e7\u00e3o com um laborat\u00f3rio de diagn\u00f3stico aprovado pela CLIA, tem o prazer de fornecer um teste diagn\u00f3stico baseado em DNA para crian\u00e7as com suspeita de S\u00edndrome de Hutchinson-Gilford Progeria (HGPS).<\/p>\n

Ap\u00f3s uma intensa busca cient\u00edfica, o gene para a S\u00edndrome de Hutchinson-Gilford Progeria (HGPS) foi encontrado em abril de 2003 por um grupo de pesquisadores trabalhando juntos atrav\u00e9s do PRF Genetics Consortium. Entre eles estavam pesquisadores proeminentes de institui\u00e7\u00f5es por todos os Estados Unidos, incluindo o National Institutes of Health, e a Diretora M\u00e9dica da PRF, Dra. Leslie Gordon. Com a descoberta do gene, agora \u00e9 poss\u00edvel fornecer um teste cient\u00edfico para diagnosticar definitivamente crian\u00e7as com Progeria.<\/p>\n

[\/et_pb_text][et_pb_text admin_label=\u201dQual \u00e9 o gene para HGPS?\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||50px\u201d custom_padding=\u201d|50px||\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

Qual \u00e9 o gene para HGPS?<\/strong><\/h4>\n

O gene respons\u00e1vel pelo HGPS \u00e9 chamado LMNA (pronuncia-se Lamin A). Dentro desse gene, h\u00e1 uma mudan\u00e7a em um elemento do DNA. Esse tipo de mudan\u00e7a gen\u00e9tica \u00e9 chamado de muta\u00e7\u00e3o pontual. O gene LMNA produz uma prote\u00edna chamada Lamin A, que \u00e9 uma prote\u00edna importante para a maioria das c\u00e9lulas do nosso corpo. A Lamin A \u00e9 encontrada no n\u00facleo da c\u00e9lula e ajuda a manter a integridade da c\u00e9lula.<\/p>\n

[\/et_pb_text][et_pb_text admin_label=\u201dEsta doen\u00e7a \u00e9 transmitida?\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||50px\u201d custom_padding=\u201d|50px||\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

Esta doen\u00e7a \u00e9 transmitida?<\/strong><\/h4>\n

HGPS geralmente n\u00e3o \u00e9 passado nas fam\u00edlias. A mudan\u00e7a gen\u00e9tica \u00e9 uma ocorr\u00eancia rara. Crian\u00e7as com outros tipos de s\u00edndromes \u201cprogeroides\u201d que n\u00e3o s\u00e3o HGPS podem ter doen\u00e7as que s\u00e3o passadas nas fam\u00edlias.<\/p>\n

[\/et_pb_text][et_pb_text admin_label=\u201dDo que se trata o teste?\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||50px\u201d custom_padding=\u201d|50px||\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

Do que se trata o teste?<\/strong><\/h4>\n

Anteriormente, s\u00f3 pod\u00edamos diagnosticar HGPS usando informa\u00e7\u00f5es cl\u00ednicas, como uma apar\u00eancia geral e raios X. O diagn\u00f3stico incorreto era um evento frequente. Os cientistas agora sabem que HGPS \u00e9 geralmente causado por uma mudan\u00e7a de apenas uma letra nos bilh\u00f5es de letras que comp\u00f5em o genoma humano (DNA). Essa mudan\u00e7a pode ser vista usando sequenciamento gen\u00e9tico, no qual o gene \u00e9 "decodificado" e sua sequ\u00eancia \u00e9 determinada letra por letra.<\/p>\n

Agora, a PRF tem um teste gen\u00e9tico que pode identificar HGPS. Isso pode se traduzir em diagn\u00f3stico mais precoce, menos diagn\u00f3sticos errados e interven\u00e7\u00e3o m\u00e9dica precoce para garantir uma melhor qualidade de vida para as crian\u00e7as. Ap\u00f3s o diagn\u00f3stico definitivo de Progeria, m\u00e9dicos e fam\u00edlias precisam de informa\u00e7\u00f5es sobre tratamento m\u00e9dico por muitos anos, e a PRF est\u00e1 l\u00e1 para fornecer essas informa\u00e7\u00f5es importantes, como recomenda\u00e7\u00f5es de tratamento que abordam quest\u00f5es de qualidade de vida do dia a dia.<\/p>\n

Al\u00e9m disso, com o diagn\u00f3stico definitivo, os cientistas t\u00eam a garantia de que as c\u00e9lulas com as quais est\u00e3o trabalhando (derivadas de amostras de sangue e pele de crian\u00e7as com Progeria) para explorar a Progeria, o envelhecimento e as doen\u00e7as card\u00edacas s\u00e3o realmente c\u00e9lulas de Progeria. No passado, as c\u00e9lulas eram fornecidas aos pesquisadores sem tais garantias. Assim, os pesquisadores \u00e0s vezes trabalhavam com c\u00e9lulas de crian\u00e7as sem Progeria e isso poderia afetar severamente seus resultados de pesquisa e interpreta\u00e7\u00e3o. Por meio do PRF Diagnostics Program, cada linhagem celular doada por meio de amostra de sangue e bi\u00f3psia de pele \u00e9 sequenciada. N\u00e3o h\u00e1 mais d\u00favidas de que as descobertas cient\u00edficas se aplicam a crian\u00e7as com Progeria. Portanto, este programa facilita os esfor\u00e7os de pesquisa do PRF.<\/p>\n

[\/et_pb_text][et_pb_text admin_label=\u201dComo fa\u00e7o esse teste?\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||50px\u201d custom_padding=\u201d|50px||\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n

Como fa\u00e7o esse teste?<\/strong><\/h4>\n

O primeiro passo \u00e9 o diretor m\u00e9dico da PRF analisar o hist\u00f3rico cl\u00ednico da crian\u00e7a para ver se o teste gen\u00e9tico deve ou n\u00e3o ser feito. Ent\u00e3o, se HGPS for um diagn\u00f3stico poss\u00edvel, entraremos em contato com voc\u00ea e seus m\u00e9dicos sobre a realiza\u00e7\u00e3o deste exame de sangue. O teste n\u00e3o tem custo para voc\u00ea ou seus m\u00e9dicos. Mantemos os mais altos padr\u00f5es de atendimento m\u00e9dico, para que todas as informa\u00e7\u00f5es sejam mantidas estritamente confidenciais.<\/p>\n

[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 _builder_version=\u201d4.16\u2033 custom_margin=\u201d|||\u201d custom_padding=\u201d0px|35px||35px||true\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dPara m\u00e9dicos e cientistas:\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||50px\u201d custom_padding=\u201d25px|50px|25px||true\u201d custom_padding_tablet=\u201d|0px||\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#00b2e2\u2033 border_width_bottom=\u201d10px\u201d border_color_bottom=\u201d#29327a\u201d global_colors_info=\u201d{}\u201d]<\/p>\n

Para m\u00e9dicos e cientistas:<\/strong><\/h4>\n

O teste de diagn\u00f3stico PRF \u00e9 feito por um laborat\u00f3rio aprovado pela CLIA. Para mais assist\u00eancia, perguntas ou problemas, entre em contato com a Dra. Leslie Gordon na The Progeria Research Foundation em\u00a0info@progeriaresearch.org<\/a><\/p>\n

[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 module_class=\u201drodap\u00e9\u201d _builder_version=\u201d4.21.0\u2033 background_color=\u201d#29327a\u201d custom_margin=\u201d-2px|||||\u201d custom_padding=\u201d0|0px|0|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d12px\u201d border_color_top=\u201d#00b2e2\u2033 global_module=\u201d133\u2033 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_row column_structure=\u201d1_4,1_4,1_2\u2033 make_equal=\u201don\u201d module_class=\u201d et_pb_row_fullwidth\u201d _builder_version=\u201d4.16\u2033 width=\u201d89%\u201d width_tablet=\u201d80%\u201d width_phone=\u201d\u201d width_last_edited=\u201don|desktop\u201d max_width=\u201d89%\u201d max_width_tablet=\u201d80%\u201d max_width_phone=\u201d\u201d max_width_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 make_fullwidth=\u201don\u201d width_unit=\u201doff\u201d custom_width_percent=\u201d100%\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/www.progeriaresearch.org\/newsletter-signup\/\u201d button_text=\u201dInscreva-se agora\u201d admin_label=\u201dInscreva-se para receber o boletim informativo\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201dligado|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201dligado\u201d button_bg_color__hover=\u201d#8fd2ed\u201d button_border_color__hover_enabled=\u201dligado\u201d]<\/p>\n

Inscrever-se<\/h2>\n

para o nosso<\/h2>\n

Boletim informativo!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/progeriaresearch.donorsupport.co\/-\/XZHJVWZR\u201d button_text=\u201dDoe agora\u201d admin_label=\u201dJuntos, encontraremos a cura!\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d body_font_size_tablet=\u201d\u201d body_font_size_phone=\u201d\u201d body_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201don|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201don\u201d bot\u00e3o_bg_color__hover=\u201d#8fd2ed\u201d bot\u00e3o_border_color__hover_enabled=\u201don\u201d]<\/p>\n

Juntos, n\u00f3s<\/h2>\n

VAI<\/em><\/h2>\n

encontre a cura!<\/h2>\n

[\/et_pb_cta][\/et_pb_column][et_pb_column tipo=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_image src=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/06\/2023-footer-strip-5.png\u201d title_text=\u201dFaixa de rodap\u00e9 2023 5\u2033 _builder_version=\u201d4.21.0\u2033 _module_preset=\u201ddefault\u201d custom_margin=\u201d35px||||false|false\u201d global_colors_info=\u201d{}\u201d][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":"

O Programa de Testes Diagn\u00f3sticos PRF A Progeria Research Foundation, em associa\u00e7\u00e3o com um laborat\u00f3rio de diagn\u00f3stico aprovado pela CLIA, tem o prazer de fornecer um teste diagn\u00f3stico baseado em DNA para crian\u00e7as com suspeita de S\u00edndrome de Hutchinson-Gilford Progeria (HGPS). Ap\u00f3s uma intensa busca cient\u00edfica, o gene para a S\u00edndrome de Hutchinson-Gilford Progeria (HGPS) foi encontrado em abril de 2003 por um grupo de pesquisadores [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-222","page","type-page","status-publish","hentry"],"yoast_head":"\nDiagnostic Testing | The Progeria Research Foundation<\/title>\n<meta name=\"description\" content=\"PRF in association with a CLIA-approved diagnostics lab now provides a DNA-based, diagnostic test for children suspected of having Progeria (HGPS).\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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