COMPLEMENT DEFICIENCY: CLINICAL EXOME PANEL (Sec. & CNVs) – 76 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Complement Deficiency Panel analyzes 76 genes involved in the various components and regulators of the complement cascade, alterations in which can lead to increased susceptibility to recurrent bacterial infections, autoimmunity, thrombotic events, or systemic inflammation. This panel covers both complete and partial deficiencies of proteins from the classical pathway (C1QA, C1QB, C1QC, C1R, C1S, C2, C4BPA), the alternative pathway (CFB, CFD, CFH, CFI, CFHR1-5, CFP), and the lectin pathway (MASP1, MASP2, FCN1-3, COLEC11), as well as genes involved in the regulation and assembly of the membrane attack complex (C5–C9). It also allows for the detection of genetic causes associated with thrombotic microangiopathies, familial systemic lupus erythematosus, and combined complement deficiencies. Some of the genes included in this panel are: C1QA, C1QB, C2, C3, CFH, CFI, MASP1, MASP2, C5, C6, C7, C8A, C8B, C9, SERPING1, THBD, among others. You can consult the complete list of genes by contacting Genotica.
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