AUTOINFLAMMATORY SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) – 112 genes

The Autoinflammatory Syndromes panel analyzes 112 genes associated with a heterogeneous group of monogenic diseases characterized by recurrent episodes of fever, systemic inflammation, and tissue damage without evidence of infection or classic autoimmunity. These pathologies include entities such as familial Mediterranean fever (FMF), hyper-IgD syndrome or mevalonate kinase (MVK) deficiency, Muckle-Wells syndrome, CINCA/NOMID syndrome, and familial autoinflammatory urticaria syndrome, all of which are related to mutations in inflammasome genes such as NLRP3, NLRP12, NLRC4, and NOD2. It also includes type I interferon activation syndromes (TREX1, TMEM173, IFIH1, ISG15), T and NK cell dysregulation syndromes (PRF1, STXBP2, UNC13D, SH2D1A), and alterations in the NF-κB signaling pathway (TNFAIP3, NFKBIA, CARD14), among others. Using next-generation sequencing (NGS), this panel allows the detection of pathogenic variants in genes that regulate molecular pattern recognition, inflammatory signaling, cytokine secretion, and immune apoptosis. Some of the genes included in this panel are: MEFV, MVK, NLRP3, NLRP12, NOD2, NLRC4, TNFAIP3, IFIH1, TREX1, TMEM173, PRF1, STAT3, and UNC13D, among others. You can obtain the complete list of genes by contacting Genotica.