Testing for TMA
Cincinnati Children’s offers the broadest available platform of molecular and cellular diagnostic testing for thrombotic microangiopathies (TMA), including atypical hemolytic uremic syndrome (aHUS), thrombotic thrombocytopenia purpura (TTP) and transplantation-associated thrombotic microangiopathy (TA-TMA). Our diagnostic tests are easy to order and results are timely and clinically relevant.
The Only Source for Comprehensive Testing
Cincinnati Children's is the only center in the United States that performs the full array of testing for thrombotic microangiopathies, streamlining a patient’s evaluation to a single institutional provider of these services.
Customized Test Results
Test results are summarized for each patient. Clinical information is incorporated with the genetic, biochemical and functional test results into a comprehensive report. The clinical significance of test results is explained, and recommendations are provided for additional testing, if warranted, as well as for clinical management.
Consultation with Recognized Clinical Experts
Cincinnati Children’s has board-certified pediatric nephrologists, hematologists, molecular geneticists and genetic counselors to provide telephone or email consultations to referring physicians regarding test selection, clinical interpretation, medical management and follow-up testing, genetic counseling, and additional studies of at-risk family members.
Thrombotic microangiopathies (TMA) are a category of diseases linked by endothelial injury leading to aggregation of platelets on the damaged endothelium, microvascular thrombosis and organ dysfunction related to microvascular injury. Disorders include Shiga toxin-producing E. coli-associated hemolytic uremic syndrome (STEC-HUS), atypical hemolytic uremic syndrome (aHUS) and thrombotic thrombocytopenic purpura (TTP).
Atypical HUS is associated with defects in the regulation of the alternative complement pathway leading to uninhibited formation of the C3 convertase C3bBb on the endothelium and subsequent microvascular injury, whereas TTP is caused by the inability of ADAMTS13 to cleave ultra-large multimers of von Willebrand Factor (vWF), with resulting adhesion of these ultra-large vWF multimers to the endothelial surface under shear stress leading to microvascular thrombosis and injury.
In addition, many secondary forms of TMA including stem cell transplant- and solid organ transplant-associated HUS, HELLP syndrome, and others have recently been associated with defects in complement regulation.