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Used to evaluate patients with recurrent venous thrombosis. This is a second generation function assay. While most instances of APC resistance (APCR) are caused by the presence of Factor V Leiden (FVL), APCR may be abnormal with less common Factor V mutations, heparin, oral anticoagulants, lupus anticoagulants or other acquired causes. In cases where APCR is abnormal but FVL testing is normal, sequencing of the Factor V gene may be warranted to detect rare variants.

Machaon provides the fastest ADAMTS13 activity and inhibitor testing available in the US. Rapid diagnosis and administration of correct treatment is paramount for TTP and aHUS. This test is diagnostic for Thrombotic Thrombocytopenic Purpura (TTP) when ADAMTS13 Activity levels are below 10%. Consider other Thrombotic Microangiopathies (TMAs), such as atypical Hemolytic Uremic Syndrome (aHUS), for ADAMTS13 Activity levels above 10%.

Machaon provides the fastest ADAMTS13 activity and inhibitor testing available in the US. Rapid diagnosis and administration of correct treatment is paramount for TTP and aHUS. This test is diagnostic for Thrombotic Thrombocytopenic Purpura (TTP) when ADAMTS13 Activity levels are below 10%. Consider other Thrombotic Microangiopathies (TMAs), such as atypical Hemolytic Uremic Syndrome (aHUS), for ADAMTS13 Activity levels above 10%.

Detection of ADAMTS13 specific IgG antibodies may be an indication of a poorer prognosis for patients with abnormally low ADAMTS13 activity levels with a positive inhibitor.

Congenital Thrombotic Thrombocytopenic Purpura (cTTP) can be rapidly diagnosed with this test. Severe deficiency of ADAMTS13 activity, negative for an inhibitor, represent putative cases of Upshaw-Schulman syndrome; this autosomal recessive inherited form of TTP can be confirmed by gene sequencing.

The clinical presentation of thrombotic microangiopathy (TMA) has been associated with multiple genetic disease including atypical hemolytic uremic syndrome (aHUS), thrombotic thrombocytopenic purpura (TTP), C3 glomerulopathy (C3G, comprising dense deposit disease and C3 glomerulonephritis), congenital B12 deficiency and others. These are difficult-to-diagnose, very sick patients with distinct treatment depending on the nature of the TMA. Accurate, rapid diagnosis is critical. Additionally, patients with the C5 p.Arg885 polymorphism may respond poorly to the current approved therapy, eculizumab. Note: this is the third time (3.0 name designation) we have updated the gene list to reflect the most current understanding of aHUS/TMA in the scientific literature.

The clinical presentation of thrombotic microangiopathy (TMA) has been associated with multiple genetic disease including atypical hemolytic uremic syndrome (aHUS), thrombotic thrombocytopenic purpura (TTP), C3 glomerulopathy (C3G, comprising dense deposit disease and C3 glomerulonephritis), congenital B12 deficiency and others. These are difficult-to-diagnose, very sick patients with distinct treatment depending on the nature of the TMA. Accurate, rapid diagnosis is critical. Additionally, patients with the C5 p.Arg885 polymorphism may respond poorly to the current approved therapy, eculizumab. Note: this is the third time (3.0 name designation) we have updated the gene list to reflect the most current understanding of aHUS/TMA in the scientific literature.

Genetics can help confirm a C3G diagnosis which can be challenging due to technical issues with immunofluorescence. Furthermore, since there is no disease-specific treatment for C3G, genetics may help treatment decisions; for example, patients with mutations may respond more poorly to mycophenolate mofetil than those with nephritic factors.

Due to the homologous nature of these tandem genes, this complement-regulatory region is more susceptible to deletions and duplications. For example, rare deletions in this region that result in a fusion of the CFH gene to CFHR1 can cause atypical hemolytic uremic syndrome (aHUS). Other more common deletions of either CFHR3-1 or CFHR1-4 can be inherited such that many people are homozygous null for CFHR1; these people are more likely than others to develop anti-CFH antibodies, which can cause aHUS.

Factor H is a regulator of the alternative complement activation pathway. Acquired Factor H deficiency due to autoantibody production can lead to overactive complement. Continuous complement activation is associated with development of atypical Hemolytic Uremic Syndrome (aHUS) and Dense Deposit Disease (DDD).

Elevations in soluble Complement 5b-9 (sC5b-9) have been associated with increased activation of the alternative complement pathway. Increased complement activation may be seen with aHUS and other TMAs, and may be a sensitive early predictor of the development of transplant associated TMA. In a cohort of 67 pediatric patients who had an allogeneic HSCT, an increase in sC5b-9 concentration from baseline had 100% sensitivity and 53% specificity for TA-TMA.

Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening disease where an underlying immune defect and/or triggering event initiates excessive activation of immune cells (macrophages and lymphocytes) leading to multi-organ dysfunction and failure. Treatment of HLH may vary depending on the underlying cause, including whether a genetic cause is detected. Timely diagnosis has been a major challenge, with patients having to start aggressive therapies or be admitted to the ICU before final diagnostic results are available. Note: this is the third time (3.0 name designation) we have updated the gene list to reflect the most current understanding of HLH in the scientific literature.

This test is used to detect soluble IL-2Rα in human plasma or serum produced in response to increased activation of B and T cells and immune system activation. Studies show elevated levels of sIL-2Rα in serum with the onset of rejection episodes in allograft recipients, autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus (SLE), hemophagocytic lymphohistiocytosis (HLH) and in the course of some leukemias and lymphomas. This test may be of diagnostic and/or prognostic value in HLH, granulomatous, autoimmune, and malignant diseases.

HLH is a life-threatening condition requiring rapid diagnosis and treatment. CXCL9 can differentiate HLH from sepsis and persistent systemic inflammatory response syndrome (SIRS). CXCL9 levels quickly and significantly decreased with emapalumab treatment in HLH patients and low levels of CXCL9 were associated with treatment response. Emapalumab neutralizes IFNγ activity; CXCL9 is a marker for IFNγ activity.

Anticardiolipin (ACL) antibodies are associated with antiphospholipid syndrome (APS). Persistently elevated levels of ACL antibodies are associated with an increased risk of vascular thrombosis and obstetrical complications.

The detection of anti-phosphatidylserine antibodies has been recommended for the serological diagnosis of antiphospholipid syndrome (APS). Antiphosphatidylserine antibodies have been associated with an increased risk for recurrent arterial and venous thrombotic events, thrombocytopenia and fetal loss.

Antithrombin III (ATIII) is a glycoprotein inhibitor of thrombin and factor Xa, whose activity is greatly potentiated by heparin. ATIII deficiencies are associated with a high risk of venous thromboembolic disease. Approximately 55 percent of patients with AT deficiency who have a family history of venous thromboembolism experience venous thrombotic episodes by the age of 50.

The activated Partial Thromboplastin Time (aPTT) is a general coagulation screening test for congenital and acquired deficiencies of the intrinsic and common coagulation pathway factors (XII, XI, IX, VIII, X, V, II, and I). This aPTT uses a reagent sensitive to factor deficiencies, lupus anticoagulants, and heparin. Machaon Diagnostics offers three different aPTT tests (aPTT, aPTT-LA, and aPTT-FS), each with different clinical utility based on differences in sensitivity to the presence of factor deficiencies and lupus anticoagulants.

Mixing studies are performed to determine whether prolongations in coagulation screening tests are due to coagulation factor deficiencies or the presence of an inhibitor. This can help direct further follow-up testing.

aPTT-FS utilizes a highly factor-sensitive aPTT reagent for the detection of factor deficiencies (VIII, IX, XI, XII) of the intrinsic system. With lower sensitivity to lupus anticoagulants and high sensitivity to heparin, this test provides a useful tool to characterize coagulopathies. Machaon Diagnostics offers three different activated Partial Thromboplastin Time tests (aPTT, aPTT-LA, and aPTT-FS), each with different clinical utility based on differences in sensitivity to the presence of factor deficiencies and lupus anticoagulants.