PRIMARY ANTIBODY DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 54 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Primary Antibody Deficiency Panel analyzes 54 genes involved in various types of inherited humoral immunodeficiencies, characterized by insufficient or dysfunctional antibody production. These deficiencies manifest clinically as recurrent respiratory and gastrointestinal infections, sinopulmonary infections, meningeal infections, or skin infections, as well as a predisposition to autoimmunity and lymphoproliferation. This panel covers the main associated genetic syndromes, including X-linked agammaglobulinemia (BTK), hyper-IgM syndrome (CD40, CD40LG, AICDA), ICOS deficiency, CD19/CD81/CD79A/B deficiencies, and forms of common variable immunodeficiency (NFKB1, TNFRSF13B, TNFRSF13C, PIK3CD). Using next-generation sequencing (NGS) with simultaneous detection of SNVs, indels, and CNVs, the analysis allows for a comprehensive evaluation of B-cell activation and differentiation pathways. Some of the genes included in this panel are: BTK, CD19, CD79A, CD40, CD40LG, ICOS, IGLL1, NFKB1, PIK3CD, TNFRSF13B, TNFRSF13C, PRKCD, and XIAP, among others. For a complete list of genes, please contact Genotica.
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