Atypical Hemolytic Uremic Syndrome

Accelerating treatment through critical precision diagnostics.

Versiti Diagnostic Labs offers a comprehensive approach to the diagnosis of Atypical Hemolytic Uremic Syndrome (aHUS). By using next-generation genetic sequencing, and a multidisciplinary approach, we provide confidence in precision test results for every patient.

Atypical hemolytic uremic syndrome (aHUS) is a severe genetic disease that presents as a systemic thrombotic microangiopathy (TMA); patients typically exhibit non-immune hemolytic anemia, thrombocytopenia and organ dysfunction, and most often, renal disease. Sequence analysis of the genes associated with aHUS is useful to confirm diagnosis, assess familial risk, and direct potential therapeutic decisions.

Streamlined evaluation to guide treatment decisions without delay.

By adding thorough analysis of complement and regulatory genes relevant in aHUS and DDD to our current panel of genetic and plasma-based assays of ADAMTS13, we are able to offer a comprehensive laboratory panel for the evaluation of patients with TMA. This panel provides a comprehensive genetic analysis of patients with TMA with a turnaround time of 28 days. Rapid definitive diagnosis of these patients would enable physicians to accelerate the start of definitive treatment and enable improvement in patient care.

1500

aHUS Complement Profile

Includes: CD46 (MCP) Expression, C3, C4, Factor B, Factor H, Factor H Autoantibody, and Factor I

1200

aHUS/DDD Genetic Evaluation

Coding regions and splice sites of the following genes are sequenced: CFH, CFI, MCP(CD46), THBD, C4BPA, C4BPB, CFB, C3, LMNA, DGKE, ADAMTS13, CFHR1, CFHR3, CFHR4 and CFHR5.

1501

C3

Complement protein 3 (C3) is the central component of the complement system. Complement activation is associated with consumption of C3. Reduced serum concentrations of C3 may be seen in some patients with aHUS.

1502

C4

C4 levels may be useful in distinguishing systemic activation of the classical versus alternative complement pathways.

1507

CD46 (MCP) Expression

Measured using flow cytometry, very low CD46 expression is detected in patients with homozygous CD46 deficiency.

1503

Factor B

Reduced Factor B levels are indicative of alternate pathway activation in complement-mediated diseases, including aHUS.

1505

Factor H

Decreased Factor H plasma levels (and/or mutations in Factor H) have been associated with a number of complement-mediated diseases, including aHUS.

1506

Factor H Autoantibody

Patients may develop autoantibodies to Factor H that may clear Factor H from circulation, or otherwise reduce control of the complement system, accounting for approximately 6% of all aHUS cases.

1504

Factor I

This control protein regulates complement production. Low levels (less than 60% of normal are indicative of a quantitative deficiency in complement-mediated diseases, including aHUS.

 
Diagnostic Laboratories
Diagnostic laboratory services including HLA testing, donor testing, immunohematology reference lab testing, hematology testing and more.
 
Hematology Testing
Versiti provides von Willebrand factor tests, aHUS diagnosis, hemophilia lab tests and other laboratory diagnosis of bleeding and clotting disorders.
 
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Access requisitions for Versiti Diagnostic Laboratories.