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Diagnostic testing in aHUS

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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) 

More information

Eculizumab non-response

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Follow up testing

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Treatment of aHUS

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