MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES: CLINICAL EXOME PANEL (Sec. & CNVs) – 17 genes

The Mendelian Susceptibility to Mycobacterial Diseases panel analyzes 17 genes associated with genetic defects that predispose individuals to severe or disseminated infections caused by nontuberculous mycobacteria, Mycobacterium bovis (BCG), or Mycobacterium tuberculosis, even in immunocompetent individuals. These primary immunodeficiencies primarily affect the interferon-gamma (IFN-γ) pathway and macrophage- and T-cell-mediated responses, which are essential for the intracellular control of pathogens. The most relevant genes include IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, IRF8, TYK2, and JAK1, which encode proteins critical for IFN-γ/IL-12 signaling. Mutations in CYBB, IKBKG, or GATA2 can cause combined forms of the condition with other immunological alterations. This panel uses next-generation sequencing (NGS) with detection of single-cell variants (SNVs), indels, and single-cell variants (CNVs), enabling the precise identification of pathogenic variants in genes involved in antimycobacterial immunity. Some of the genes included in this panel are: IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, TYK2, JAK1, and IRF8, among others. For a complete list of genes, please contact Genotica.