Autoimmune diseases (extended panel) [168 genes]

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.

~1/10,000 a 1/100,000 (monogenic forms)

• Diagnosis and genetic counseling
• Anti-inflammatories
• Immunosuppressants
• Monoclonal antibodies
• Hematopoietic stem cell transplantation (HSCT)

The identification of a pathogenic variant in the genes of the panel allows for a precise molecular diagnosis, in addition to providing genetic advice. Positive genetic testing can help direct patient management and evaluate treatment options.

This panel is indicated when there is suspicion of a monogenic autoimmune disease. The pathologies included in this panel are heterogeneous, although they may present overlapping characteristics.

• Autoantibodies
• Tissue damage
• Multisystemic
• Dysregulation of lymphocyte homeostasis