HYPERIMMUNOGLOBULINEMIA E (HYPER-IgE) SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hyperimmunoglobulinemia E (Hyper-IgE) Syndrome panel analyzes nine genes associated with this group of primary immunodeficiencies characterized by elevated serum IgE levels, recurrent skin and respiratory infections, chronic eczema, and skeletal or dental abnormalities. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this study identifies mutations affecting key cytokine signaling pathways (IL-6, IL-21, IL-23) and the STAT3 transcription factor, as well as genes involved in Th17 lymphocyte differentiation and epithelial and skin integrity. Genes included: STAT3, DOCK8, TYK2, IL6ST, IL6R, CARD11, SPINK5, PGM3, DSG1.
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