OMENN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Omenn Syndrome panel analyzes nine genes associated with a severe form of combined immunodeficiency characterized by oligoclonal autoimmune T lymphocytes, absence or scarcity of B lymphocytes, erythrodermic rash, lymphadenopathy, eosinophilia, hepatosplenomegaly, and severe recurrent infections from the first months of life. This syndrome is primarily associated with hypomorphic mutations in RAG1 and RAG2, which lead to partial recombination of the lymphocyte receptor and abnormal immune activation. Other implicated genes, such as IL2RG, IL7R, LIG4, ADA, and DCLRE1C, are involved in the development and maturation of T and B lymphocytes, DNA repair, and cytokine signaling essential for immune function. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of variants responsible for changes in genes involved in somatic recombination, interleukin signaling, and lymphocyte homeostasis. Some of the genes included in this panel are RAG1, RAG2, IL2RG, IL7R, LIG4, and ADA, among others. For a complete list of genes, please contact Genotica.
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