HYPERIMMUNOGLOBULINEMIA SYNDROME (HYPER IgE): 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 involved in a group of primary immunodeficiencies characterized by very high serum IgE levels, chronic eczema, recurrent skin and respiratory infections, and, in some cases, skeletal or facial abnormalities. Among the main genetic forms are autosomal dominant Job syndrome, caused by mutations in STAT3, and autosomal recessive Hyper-IgE syndrome, associated with variants in DOCK8 or PGM3. Other forms are related to alterations in IL-6 signaling (IL6R, IL6ST, TYK2) or to epithelial and skin barrier defects (SPINK5, DSG1). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies alterations in genes involved in T helper cell differentiation, cytokine response, inflammation regulation, and skin and mucous membrane integrity. Some of the genes included in this panel are STAT3, DOCK8, PGM3, TYK2, IL6ST, and SPINK5, among others.
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