Table 7.

Laboratory evaluation for suspected familial or acquired thrombophilia (tests are suggested and should be performed selectively based on clinical judgment; see text).

Initial General Diagnostic and Special Coagulation Laboratory Testing 
    CBC with peripheral smear 
    Prothrombin time 
    Activated partial thromboplastin time (aPTT; using a thromboplastin that is relatively sensitive to the presence of a lupus anticoagulant) 
    Thrombin time and reptilase time (to detect a heparin or direct thrombin inhibitor effect, and to screen for dysfibrinogenemia) 
    Lupus anticoagulant panel (to include at least two phospholipid-dependent clot-based assays that interrogate at least two of either the intrinsic [sensitive aPTT, Kaolin Clot Time], extrinsic [dilute prothrombin time] or common [dilute Russell viper venom time, Ecarin or Textarin clotting times] procoagulant pathways, along with mixing studies to show inhibition and “confirm” studies [e.g., platelet neutralization procedure, hexagonal phase phospholipid] to show phospholipid-dependent inhibition) 
    Anticardiolipin and anti-β2 glycoprotein 1 antibodies (IgG and IgM isotypes) 
    Activated Protein C (APC)–resistance ratio (second generation; “factor V–deficient plasma” mixing study) 
    Fibrinogen, soluble fibrin monomer complex and quantitative plasma fibrin D-dimer (to screen for intravascular coagulation and fibrinolysis [DIC]). 
    Prothrombin G20210GA mutation genotyping (direct genomic DNA mutation testing) 
    Plasma homocysteine (basal) 
Additional Selective Special Coagulation Laboratory Testing 
    Factor V Leiden mutation genotyping (if the APC-resistance ratio is abnormal [low]; direct genomic DNA mutation testing) 
    For patients with idiopathic or recurrent venous thromboembolism; a first episode of venous thromboembolism at a “young” age; a family history of venous thromboembolism; venous thrombosis in an unusual vascular territory; neonatal purpura fulminans or warfarin-induced skin necrosis: 
        -antithrombin activity (followed by antithrombin antigen level if the activity is low) 
        -protein C activity (followed by protein C antigen level if the activity is low) 
        -protein S activity (followed by free protein S antigen level if the activity is low. The total protein S antigen level may be helpful if the free protein S antigen is low) 
    Flow cytometry for paroxysmal noctural hemoglobinuria 
    Plasma ADAMTS-13 activity (for acquired or familial thrombotic thrombocytopenic purpura) 
    Plasminogen activity (for ligneous conjunctivitis/gingivitis) 
    Heparin-induced thrombocytopenia testing (plasma anti-PF4/glycosaminoglycan antibodies [ELISA]; platelet 14C-serotonin release assay; heparin-dependent platelet aggregation) 
    Quantitative PCR assay for JAK2 mutation (for splanchnic or portal vein thrombosis). 
Additional Selective General Diagnostic Testing 
    ESR, chemistries, PSA, β-HCG, Ca-125, ANA, (dsDNA, RF, ENA) 
    PA/lateral CXR, urinalysis, mammogram 
    Colon imaging, especially if no prior screening (proctosigmoidoscopy, colonoscopy) 
    Chest imaging for smokers (CT, MRI) 
    ENT consultation, especially for smokers 
    UGI/upper endoscopy 
    Abdominal imaging (CT) 
    Endometrial biopsy if endometrial cancer suspected 
    Angiography 
Initial General Diagnostic and Special Coagulation Laboratory Testing 
    CBC with peripheral smear 
    Prothrombin time 
    Activated partial thromboplastin time (aPTT; using a thromboplastin that is relatively sensitive to the presence of a lupus anticoagulant) 
    Thrombin time and reptilase time (to detect a heparin or direct thrombin inhibitor effect, and to screen for dysfibrinogenemia) 
    Lupus anticoagulant panel (to include at least two phospholipid-dependent clot-based assays that interrogate at least two of either the intrinsic [sensitive aPTT, Kaolin Clot Time], extrinsic [dilute prothrombin time] or common [dilute Russell viper venom time, Ecarin or Textarin clotting times] procoagulant pathways, along with mixing studies to show inhibition and “confirm” studies [e.g., platelet neutralization procedure, hexagonal phase phospholipid] to show phospholipid-dependent inhibition) 
    Anticardiolipin and anti-β2 glycoprotein 1 antibodies (IgG and IgM isotypes) 
    Activated Protein C (APC)–resistance ratio (second generation; “factor V–deficient plasma” mixing study) 
    Fibrinogen, soluble fibrin monomer complex and quantitative plasma fibrin D-dimer (to screen for intravascular coagulation and fibrinolysis [DIC]). 
    Prothrombin G20210GA mutation genotyping (direct genomic DNA mutation testing) 
    Plasma homocysteine (basal) 
Additional Selective Special Coagulation Laboratory Testing 
    Factor V Leiden mutation genotyping (if the APC-resistance ratio is abnormal [low]; direct genomic DNA mutation testing) 
    For patients with idiopathic or recurrent venous thromboembolism; a first episode of venous thromboembolism at a “young” age; a family history of venous thromboembolism; venous thrombosis in an unusual vascular territory; neonatal purpura fulminans or warfarin-induced skin necrosis: 
        -antithrombin activity (followed by antithrombin antigen level if the activity is low) 
        -protein C activity (followed by protein C antigen level if the activity is low) 
        -protein S activity (followed by free protein S antigen level if the activity is low. The total protein S antigen level may be helpful if the free protein S antigen is low) 
    Flow cytometry for paroxysmal noctural hemoglobinuria 
    Plasma ADAMTS-13 activity (for acquired or familial thrombotic thrombocytopenic purpura) 
    Plasminogen activity (for ligneous conjunctivitis/gingivitis) 
    Heparin-induced thrombocytopenia testing (plasma anti-PF4/glycosaminoglycan antibodies [ELISA]; platelet 14C-serotonin release assay; heparin-dependent platelet aggregation) 
    Quantitative PCR assay for JAK2 mutation (for splanchnic or portal vein thrombosis). 
Additional Selective General Diagnostic Testing 
    ESR, chemistries, PSA, β-HCG, Ca-125, ANA, (dsDNA, RF, ENA) 
    PA/lateral CXR, urinalysis, mammogram 
    Colon imaging, especially if no prior screening (proctosigmoidoscopy, colonoscopy) 
    Chest imaging for smokers (CT, MRI) 
    ENT consultation, especially for smokers 
    UGI/upper endoscopy 
    Abdominal imaging (CT) 
    Endometrial biopsy if endometrial cancer suspected 
    Angiography 

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