Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of complement-mediated HUS/atypical HUS (aHUS) or thrombotic microangiopathies (TMA)
Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved
Identifying variants in genes encoding complement alternate pathway components and specific coagulation pathway genes known to be associated with increased risk for aHUS/TMA allowing for predictive testing of at-risk family members
This test uses next-generation sequencing to test for variants in the ADAMTS13, C3, CD46 (MCP), CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, DGKE, PLG, and THBD genes.
This test uses Sanger sequencing to test for variants in certain exons of the following genes:
PLG Exons 1, 4, and 19
CFH Exons 20-22
CFHR1 Exons 4
CFHR3 Exons 4 and 5
Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.
For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
