ATYPICAL HEMOLYTIC UREMIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 35 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Atypical Hemolytic Uremic Syndrome (aHUS) panel analyzes 35 genes associated with this inherited thrombotic microangiopathy characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Unlike the post-infectious form, aHUS has a genetic basis linked to dysfunction in the alternative complement pathway, leading to endothelial damage and microthrombus formation. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of variants that alter the control of complement activation. Some of the genes included in this panel are: CFH, CFI, CFB, MCP (CD46), THBD, DGKE, C3, C5, CFHR1, CFHR5, and VWF, among others. The complete list of genes can be obtained by contacting Genotica.
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