Hemophilia
Hemophilia is an X-linked inherited bleeding disorder caused by mutation of the F8 or F9 gene Genetic analysis is useful for identification of the underlying genetic defect in males with severe, moderate or mild hemophilia and for determination of carrier status in the female individuals within their families.
Two algorithms for targeted diagnosis
Versiti Blood Center of Wisconsin provides a comprehensive menu of diagnostic tests for persons with hemophilia. This menu includes factor activity tests, factor inhibitor testing and comprehensive genetic testing.
All Related Tests
1093
Factor IX Activity - Hepzyme Treated
This assay measures activity of factor IX, with addition of hepzyme to neutralize the influence of heparin.
1095
Factor IX Inhibitor Profile
This order set includes both Factor IX Activity and Factor IX Inhibitor.
1094
Factor IX Inhibitor Profile - Hepzyme Treated
This order set includes both Factor IX Activity and Factor IX Inhibitor, both including the addition of hepzyme to neutralize the influence of heparin.
1401
Factor VIII (F8) Intron 1 Inversion Analysis
F8 intron 1 Inversion Analysis is appropriate for individuals with a family history of severe hemophilia A known to be caused by this pathogenic variant.
1400
Factor VIII (F8) Intron 22 Inversion Analysis
F8 intron 22 Inversion Analysis is appropriate for individuals with a family history of severe hemophilia A known to be caused by this pathogenic variant.
1402
Factor VIII (F8) Inversion Analysis
Factor 8 (F8) inversion analysis evaluates both the intron 1 and intron 22 inversions, and is recommended only for males with severe hemophilia A, or females who have a family history of severe unknown type of hemophilia A, or females with low factor VIII levels who have no known family history of hemophilia. This assay is included in the Factor VIII (F8) severe HA Analysis-Reflex test. F8 variants other than inversions are not detected by this assay.
1403
Factor VIII (F8) Severe HA Analysis-Reflex
This testing is recommended for the detection of germline variants associated with severe Hemophilia A . Testing begins with F8 inversion Analysis; if this analysis is negative, F8 Sequence Analysis is performed at an additional charge. Refer to F8 Inversion Analysis and F8 Sequence Analysis for test information.
1135
Factor VIII Activity - Chromogenic
The chromogenic factor VIII activity assay uses bovine reagents, is insensitive to emicizumab and lupus anticoagulant, and is adversely affected by the presence of direct factor X inhibitors or high concentrations of heparin.
1081
Factor VIII Activity - Clot based
This test measures the activity of factor VIII to aid in diagnosis of hemophilia A, acquired factor VIII deficiency, or as part of diagnostic workup for von Willebrand disease (VWD).
1315
Factor VIII Activity - Concentrate
This test is used to determine the level of the coagulation protein Factor VIII in a vial of factor concentrate.
1310
Factor VIII Activity - Cryoprecipitate
This test is used to determine the level of the coagulation protein Factor VIII in a unit or pool of cryoprecipitate. Contact laboratory for additional information.
1136
Factor VIII Activity Hepzyme Treated - Chromogenic
The chromogenic factor VIII activity assay uses bovine reagents, is insensitive to emicizumab and lupus anticoagulant, and is adversely affected by the presence of direct factor X inhibitors or very high concentrations of heparin (greater than 2 U/mL). The addition of hepzyme in this assay will neutralize the influence of heparin.
1082
Factor VIII Activity Hepzyme Treated - Clot based
This assay measures activity of factor VIII, with addition of hepzyme to neutralize the influence of heparin.
1137
Factor VIII Inhibitor
The chromogenic factor VIII inhibitor assay uses bovine reagents, is insensitive to emicizumab and lupus anticoagulant, and is adversely affected by the presence of direct factor X inhibitors or high concentrations of heparin.
1138
Factor VIII Inhibitor - Hepzyme Treated
The chromogenic factor VIII inhibitor assay uses bovine reagents, is insensitive to emicizumab and lupus anticoagulant, and is adversely affected by the presence of direct factor X inhibitors or very high concentrations of heparin (greater than 2 U/mL). The addition of hepzyme in this assay will neutralize the influence of heparin.
1086
Porcine Factor VIII Inhibitor Profile
This order set includes both Factor VIII Activity-Clot based and Porcine Factor VIII Inhibitor.
1084
Porcine Factor VIII Inhibitor Profile - Hepzyme Treated
This order set includes both Factor VIII Activity-Clot based and Porcine Factor VIII Inhibitor, with addition of hepzyme to neautralize the influence of heparin