Autoimmune disorders are mainly a consequence of defects during tolerance processes to autoantigens. The genetic load has been widely related to autoimmune diseases, with monogenic forms and risk factors of genetic origin. Our panels are mainly focused on monogenic causes but also include genetic alterations that confer susceptibility to the development of the disease. Clinical manifestations are frequently characterized by the presence of autoantibodies, tissue damage without apparent external cause or dysregulation of lymphocyte homeostasis, but may present a broad spectrum of symptoms that make diagnosis difficult.
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