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%.

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.

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%.

This panel will confirm a diagnosis of TTP, differentiate between inherited and acquired forms of TTP, and provide an assessment of antibody level. ADAMTS13 Activity is diagnostic for Thrombotic Thrombocytopenic Purpura (TTP) when ADAMTS13 Activity levels are below 5-10%. Consider other Thrombotic Microangiopathies (TMAs), such as atypical Hemolytic Uremic Syndrome (aHUS), for ADAMTS13 levels above 10%. Early diagnosis and administration of correct treatment is paramount for TTP and aHUS. Testing for the presence of an inhibitor to ADAMTS13 helps differentiate between inherited and acquired Thrombotic Thrombocytopenic Purpura (TTP), while the ADAMTS13 Antibody assay provides a quantitative assessment of anti-ADAMTS13 antibody level. Rarely, cases of acquired TTP may occur due to antibodies that mediate increased clearance of ADAMTS13 but do not inhibit enzyme activity - these antibodies would be detected in the ADAMTS13 Antibody assay but not the ADAMTS13 Inhibitor assay.

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.

Alpha-2-antiplasmin is the major physiologic inhibitor of plasmin. Reductions in alpha-2-antiplasmin have been associated with DIC, severe liver disease, malignancy, nephrotic syndrome and following thrombolytic therapy.

Genetics can help confirm a diagnosis of Alport syndrome and may be especially helpful when the clinical phenotype is not clear-cut. Genetics can also inform family planning (for example, does an affected male have X-linked or autosomal Alport and is an affected female heterozygous or homozygous?).

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).

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.

Antibodies to phosphatidylserine/prothrombin complex (aPS/PT) have been reported to be associated with antiphospholipid syndrome. This assay may be warranted in symptomatic patients, negative for APS criteria tests: LA, ACL and B2GPI.

This panel will detect laboratory abnormalities characteristic of Antiphospholipid Syndrome (APS), including the presence of a lupus anticoagulant, antibodies against the membrane phospholipid cardiolipin (IgG, IgM and IgA isotypes) and antibodies against B2GP1 (IgG, IgM and IgA isotypes). Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening form of APS characterized by the presence of a triple-positive APS lab work-up. Detecting a single, double, or triple positive result can significantly change patient management. Lupus anticoagulant and antiphospholipid antibodies increase the risk of arterial thrombosis, venous thrombosis, thrombocytopenia and recurrent miscarriage.

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.

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.

SERPINC1 is the gene encoding antithrombin III (AT3) protein. AT3 deficiency is a common cause of inherited thrombophilia and may be as prevalent as 1:2000. Sequencing may help confirm the diagnosis.

Direct oral anticoagulants (DOACs) such as apixaban are monitored in select clinical situations such as kidney disease, urgent surgery, dosing concerns, compliance concerns and bleeding.

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.