HYPER IgM SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 11 genes

The Hyper IgM Syndrome panel analyzes 11 genes associated with primary immunodeficiencies characterized by an alteration in immunoglobulin class switching, resulting in normal or elevated IgM levels with a marked decrease in IgG, IgA, and IgE. These conditions manifest with recurrent bacterial and viral infections, lymphadenopathy, neutropenia, and, in some cases, an increased risk of autoimmune diseases or neoplasms. There are X-linked forms, such as those caused by mutations in CD40LG or SH2D1A, and autosomal recessive forms, related to defects in AICDA, UNG, CD40, PIK3CD, PIK3R1, ATM, or NF-κB1A, which affect B cell signaling and somatic recombination. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows for the precise study of genes involved in lymphocyte activation, DNA repair, and the NF-κB and PI3K signaling pathways. Some of the genes included in this panel are CD40LG, CD40, AICDA, UNG, PIK3CD, SH2D1A, and ATM, among others. For a complete list of genes, please contact Genotica.