HEREDITARY ANGIOEDEMA: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Hereditary Angioedema Panel analyzes four genes involved in the regulation of the complement system and the bradykinin pathway, alterations in which lead to recurrent episodes of non-pruritic edema affecting the skin, mucous membranes, airways, and gastrointestinal tract. These episodes can be potentially serious, especially when they involve the larynx or abdomen, and are often triggered by stress, trauma, or hormonal changes. Next-generation sequencing (NGS) with simultaneous detection of SNVs, indels, and CNVs allows for the identification of both classic forms of hereditary angioedema due to quantitative or functional deficiency of the C1 inhibitor (SERPING1), and variants with normal C1-INH levels due to mutations in F12, PLG, or ANGPT1, which alter kallikrein activation and bradykinin generation. Some of the genes included in this panel are: SERPING1, F12, PLG, and ANGPT1.
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