Diagnostic testing in aHUS

Diagnostic testing in aHUS
We have established a combined aHUS lab diagnostics service in Newcastle upon Tyne Hospitals that encompasses genetic and immunological evaluation of the complement system (and ADAMTS13 activity) to facilitate diagnosis of aHUS and exclusion of secondary causes of TMA (including TTP).
We screen the following as part of a complement profile to help us assess the patient with a potential diagnosis of aHUS.
Samples can be sent to our laboratories as part of an emergency referral to the National aHUS Service
Serological testing
- C3, C4, CH50, AP100, FH, FI, FB, sC5b-9
- FH autoantibodies
Whole Blood Testing
- CD46 expression on neutrophils
Genetic testing
- Coding exons of CFH, CFI, CD46, C3, CFB, DGKE and MMACHC
- Copy number of CFH, CFI, CD46, CFHR1, CFHR3
- C5 Eculizumab non responder SNPs (p.R885H; p.R885C)