{"id":2346,"date":"2023-09-21T14:33:39","date_gmt":"2023-09-21T12:33:39","guid":{"rendered":"https:\/\/nlm.it\/genetic\/"},"modified":"2026-10-20T13:44:40","modified_gmt":"2026-10-20T11:44:40","slug":"genetic-diseases","status":"publish","type":"page","link":"https:\/\/nlm.it\/en\/products\/genetic-diseases\/","title":{"rendered":"Genetic diseases"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; background_enable_color=&#8221;off&#8221; use_background_color_gradient=&#8221;on&#8221; background_color_gradient_stops=&#8221;#ffffff 0%|#7bbee0 97%&#8221; background_image=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/05\/NLM-texture-1-1.png&#8221; background_size=&#8221;initial&#8221; custom_padding=&#8221;||20px||false|false&#8221; bottom_divider_style=&#8221;curve&#8221; bottom_divider_color=&#8221;#FFFFFF&#8221; bottom_divider_height=&#8221;63px&#8221; bottom_divider_flip=&#8221;horizontal|vertical&#8221; saved_tabs=&#8221;all&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row admin_label=&#8221;Riga&#8221; _builder_version=&#8221;4.20.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.20.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_post_title meta=&#8221;off&#8221; featured_image=&#8221;off&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; title_text_align=&#8221;center&#8221; title_text_color=&#8221;#333333&#8243; title_font_size=&#8221;45px&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_post_title][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_enable_color=&#8221;off&#8221; background_enable_image=&#8221;off&#8221; background_size=&#8221;initial&#8221; custom_margin=&#8221;0px||||false|false&#8221; custom_padding=&#8221;0px||||false|false&#8221; locked=&#8221;off&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; width=&#8221;90%&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Molecular diagnostics of genetic diseases for accurate diagnosis and increasingly personalized medicine&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; global_colors_info=&#8221;{}&#8221;]Genetic diseases are conditions caused by alterations in DNA that can be inherited or arise spontaneously. They include a broad group of disorders, from rare diseases to the most common hereditary conditions, which can affect various organs and systems and present with clinical pictures of varying severity.<br \/>The identification of genetic alterations is a fundamental element in supporting diagnosis, defining hereditary risk and guiding the patient\u2019s clinical pathway.[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; module_class=&#8221;catlist-sec&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; border_width_top=&#8221;3px&#8221; border_color_top=&#8221;#FFFFFF&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; width=&#8221;50%&#8221; width_tablet=&#8221;90%&#8221; width_phone=&#8221;90%&#8221; width_last_edited=&#8221;on|tablet&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Explore solutions for the diagnosis of genetic diseases&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h2&#8243; title_text_align=&#8221;center&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; text_orientation=&#8221;center&#8221; global_colors_info=&#8221;{}&#8221;]Browse the subcategories to find the genetic analysis solutions best suited to your laboratory\u2019s needs.[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_4,1_4,1_4,1_4&#8243; use_custom_gutter=&#8221;on&#8221; gutter_width=&#8221;1&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; max_width=&#8221;100%&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#006387&#8243; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;500ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/pharmacogenetics\/&#8221; global_colors_info=&#8221;{}&#8221; custom_padding__hover_enabled=&#8221;off|desktop&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Pharmacogenetics<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Farmacogenetica-300&#215;240.png&#8221; title_text=&#8221;Pharmacogenetics&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;-50px||||false|false&#8221; custom_padding=&#8221;||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#0089ba&#8221; transform_scale_last_edited=&#8221;off|desktop&#8221; transform_translate_last_edited=&#8221;off|desktop&#8221; transform_rotate_last_edited=&#8221;off|desktop&#8221; transform_skew_last_edited=&#8221;off|desktop&#8221; transform_origin_last_edited=&#8221;off|desktop&#8221; transform_styles_last_edited=&#8221;off|desktop&#8221; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;1000ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/cystic-fibrosis\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Cystic fibrosis<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Fibrosi-Cistica-300&#215;240.png&#8221; title_text=&#8221;Cystic fibrosis&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; module_alignment=&#8221;center&#8221; custom_margin=&#8221;-50px||||false|false&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#2aaae1&#8243; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;1500ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/thalassemias\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Thalassemias<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Talassemie-300&#215;240.png&#8221; title_text=&#8221;Thalassemias&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; custom_margin=&#8221;-50px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#006387&#8243; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;1500ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/hemochromatosis\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Hemochromatosis<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Emocromatosi-300&#215;240.png&#8221; 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link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/coagulation\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Coagulation<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Coagulazione-300&#215;240.png&#8221; title_text=&#8221;Coagulation&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; module_alignment=&#8221;center&#8221; custom_margin=&#8221;-50px||||false|false&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#2aaae1&#8243; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;500ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/en\/categoria-prodotto\/genetic-predispositions\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; header_text_align=&#8221;center&#8221; header_font_size=&#8221;40px&#8221; background_layout=&#8221;dark&#8221; custom_margin=&#8221;25px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1>Genetic predispositions<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/nlm.it\/wp-content\/uploads\/2023\/10\/Predisposizioni-genetiche-300&#215;240.png&#8221; title_text=&#8221;Genetic predispositions&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; module_alignment=&#8221;center&#8221; custom_margin=&#8221;-50px||||false|false&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#006387&#8243; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;1000ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/categoria-prodotto\/espansione-di-triplette\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221; transform_scale__hover=&#8221;110%|110%&#8221;][\/et_pb_column][et_pb_column type=&#8221;1_4&#8243; _builder_version=&#8221;4.21.0&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#0089ba&#8221; custom_padding=&#8221;||||true|true&#8221; animation_style=&#8221;fade&#8221; animation_delay=&#8221;1000ms&#8221; link_option_url=&#8221;https:\/\/nlm.it\/categoria-prodotto\/altre\/&#8221; global_colors_info=&#8221;{}&#8221; transform_styles__hover_enabled=&#8221;on|hover&#8221; transform_scale__hover=&#8221;110%|110%&#8221; transform_scale__hover_enabled=&#8221;on|hover&#8221; transform_translate__hover_enabled=&#8221;on|desktop&#8221; transform_rotate__hover_enabled=&#8221;on|desktop&#8221; transform_skew__hover_enabled=&#8221;on|desktop&#8221; transform_origin__hover_enabled=&#8221;on|desktop&#8221;][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; width=&#8221;90%&#8221; custom_margin=&#8221;||||false|false&#8221; custom_padding=&#8221;||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;From diagnosis to personalized medicine&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h2&#8243; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; global_colors_info=&#8221;{}&#8221;]Knowledge of an individual\u2019s genetic profile makes it possible to better understand the origin of the disease and to adopt more targeted diagnostic and therapeutic strategies. In many cases, identifying the causative genetic variant makes it possible to improve the clinical assessment, facilitate follow-up and support access to specific treatment pathways.<br \/>The integration of genetic information into clinical practice is one of the pillars of precision medicine, an approach that aims to personalize patient management based on the individual\u2019s biological characteristics.[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; custom_margin=&#8221;||19px|||&#8221; global_colors_info=&#8221;{}&#8221;]<strong>Modern genetic analysis technologies are applied in numerous clinical areas, including:<\/strong>[\/et_pb_text][dsm_icon_list icon_padding=&#8221;10px&#8221; list_vertical_alignment=&#8221;flex-start&#8221; list_padding=&#8221;||8px||false|false&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font_size=&#8221;18px&#8221; custom_margin=&#8221;0px||0px||true|false&#8221; custom_padding=&#8221;0px||0px||true|false&#8221; global_colors_info=&#8221;{}&#8221;][dsm_icon_list_child text=&#8221;hereditary and rare diseases;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;cystic fibrosis;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;thalassemias and hemoglobinopathies;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;hereditary hemochromatosis;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;neurological and neuromuscular diseases;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;genetic predispositions;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;pharmacogenetics;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;immunogenetics and HLA typing;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;carrier screening;&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][dsm_icon_list_child text=&#8221;reproductive medicine.&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/dsm_icon_list_child][\/dsm_icon_list][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; global_colors_info=&#8221;{}&#8221;]The breadth of its applications makes molecular genetics an important tool for laboratories, geneticists and specialists involved in the diagnosis and management of hereditary diseases.<br \/>Thanks to the evolution of genomic technologies, molecular diagnostics is transforming the way genetic diseases are understood and managed, offering new opportunities for prevention, early diagnosis and the personalization of care pathways.[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#00ADEE&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; width=&#8221;50%&#8221; width_tablet=&#8221;90%&#8221; width_phone=&#8221;90%&#8221; width_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;The role of molecular diagnostics in genetic diseases&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h2&#8243; title_text_align=&#8221;center&#8221; title_text_color=&#8221;#ECECEC&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_text_color=&#8221;#FFFFFF&#8221; text_font_size=&#8221;18px&#8221; text_orientation=&#8221;center&#8221; global_colors_info=&#8221;{}&#8221;]Thanks to advances in molecular genetics, it is possible to obtain increasingly precise and timely information, useful for personalized health management.<br \/>Molecular diagnostics of genetic diseases makes it possible to analyze the genome in search of variants and alterations associated with specific hereditary diseases. These technologies help identify the genetic basis of the disease with high levels of accuracy, reliability and reproducibility.[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8221;1&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_row _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; width=&#8221;50%&#8221; width_tablet=&#8221;90%&#8221; width_phone=&#8221;90%&#8221; width_last_edited=&#8221;on|tablet&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_heading title=&#8221;Solutions for the diagnosis of genetic diseases&#8221; _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; title_level=&#8221;h2&#8243; title_text_align=&#8221;center&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_heading][et_pb_text _builder_version=&#8221;4.27.9&#8243; _module_preset=&#8221;default&#8221; text_font=&#8221;|300|||||||&#8221; text_font_size=&#8221;18px&#8221; text_orientation=&#8221;center&#8221; global_colors_info=&#8221;{}&#8221;]Explore the subcategories and discover the solutions available for genetic analysis. For information on the products best suited to your laboratory\u2019s needs, contact Nuclear Laser Medicine.<br \/>Contact us[\/et_pb_text][et_pb_button button_url=&#8221;@ET-DC@eyJkeW5hbWljIjp0cnVlLCJjb250ZW50IjoicG9zdF9saW5rX3VybF9wYWdlIiwic2V0dGluZ3MiOnsicG9zdF9pZCI6IjY4NyJ9fQ==@&#8221; button_text=&#8221;Contact us&#8221; button_alignment=&#8221;center&#8221; _builder_version=&#8221;4.27.9&#8243; _dynamic_attributes=&#8221;button_url&#8221; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_button][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetic diseases are conditions caused by alterations in DNA that can be inherited or arise spontaneously. They include a broad group of disorders, from rare diseases to the most common hereditary conditions, which can affect various organs and systems and present with clinical pictures of varying severity.The identification of genetic alterations is a fundamental element in supporting diagnosis, defining hereditary risk and guiding the patient\u2019s clinical pathway.Browse the subcategories to find the genetic analysis solutions best suited to your laboratory\u2019s needs.PharmacogeneticsCystic fibrosisThalassemiasHemochromatosisCoagulationGenetic predispositionsKnowledge of an individual\u2019s genetic profile makes it possible to better understand the origin of the disease and to adopt more targeted diagnostic and therapeutic strategies. In many cases, identifying the causative genetic variant makes it possible to improve the clinical assessment, facilitate follow-up and support access to specific treatment pathways.The integration of genetic information into clinical practice is one of the pillars of precision medicine, an approach that aims to personalize patient management based on the individual\u2019s biological characteristics.Modern genetic analysis technologies are applied in numerous clinical areas, including:<div class=\"et_pb_module dsm_icon_list dsm_icon_list_0\">\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<div class=\"et_pb_module_inner\">\n\t\t\t\t\t<ul class=\"dsm_icon_list_items dsm_icon_list_ltr_direction dsm_icon_list_layout_vertical\"><\/ul>\n\t\t\t\t<\/div>\n\t\t\t<\/div><li class=\"dsm_icon_list_child dsm_icon_list_child_0\">\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<span class=\"dsm_icon_list_wrapper\"><span class=\"dsm_icon_list_icon\">P<\/span><\/span><span class=\"dsm_icon_list_text\">hereditary and rare diseases;<\/span>\n\t\t\t<\/li><li class=\"dsm_icon_list_child dsm_icon_list_child_1\">\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<span class=\"dsm_icon_list_wrapper\"><span class=\"dsm_icon_list_icon\">P<\/span><\/span><span class=\"dsm_icon_list_text\">cystic fibrosis;<\/span>\n\t\t\t<\/li><li class=\"dsm_icon_list_child dsm_icon_list_child_2\">\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<span class=\"dsm_icon_list_wrapper\"><span class=\"dsm_icon_list_icon\">P<\/span><\/span><span class=\"dsm_icon_list_text\">thalassemias and hemoglobinopathies;<\/span>\n\t\t\t<\/li><li class=\"dsm_icon_list_child dsm_icon_list_child_3\">\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<span class=\"dsm_icon_list_wrapper\"><span class=\"dsm_icon_list_icon\">P<\/span><\/span><span class=\"dsm_icon_list_text\">&#8221;hereditary<\/span>\n\t\t\t<\/li><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":2356,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2346","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/pages\/2346","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/comments?post=2346"}],"version-history":[{"count":0,"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/pages\/2346\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/pages\/2356"}],"wp:attachment":[{"href":"https:\/\/nlm.it\/en\/wp-json\/wp\/v2\/media?parent=2346"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}