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The rules say that plans must pay for a medical service or item if regular Medicare would pay for it in this case. 
You can find this rule at 42 Code of Federal Regulations (CFR) Section 422.101. 
 
The rules state that this is a non-coverage policy for genetic testing for thrombophilia testing for the Factor V 
Leiden (FVL) variant in the F5 gene, the G20210G>A (G20210A) variant in the F2 gene, and the MTHFR 
gene which encodes the 5,10-methylenetetrahydrofolate reductase enzyme. Genetic testing for these genes for 
all risk factors, signs, symptoms, diseases, or conditions, including cardiovascular risk assessment, are non-
covered except for pregnant patients. 
 
Testing for FVL and F2 G20210A mutations is indicated for pregnant patients who have a history of personal 
venous thromboembolism (VTE) associated with a non-recurrent (transient) risk factor who are not otherwise 
receiving anticoagulant prophylaxis. The results of genetic testing can inform risk stratification for VTE 
recurrence and subsequent need for antenatal prophylaxis. However, Medicare will not add coverage of 
thrombophilia testing for pregnant women because they likely represent a very small group of potential 
Medicare (disabled) patients. Claims submitted on this limited Medicare population will deny per the policy, 
but should be appealed for coverage with submission of medical records supporting the necessity for testing, 
and specify how testing changed anticoagulant prophylaxis management for the patient. 
 
Background 
 
Thrombophilia (or hypercoagulability) is the propensity to develop thrombosis due to either an acquired or 
inherited defect in the coagulation system. The major clinical manifestation of thrombophilia is VTE. Acquired 
thrombophilia risk factors include but are not limited to advancing age (> 50), trauma, malignancy, 
chemotherapy, major surgery, immobilization, pregnancy, estrogen, inflammation, antiphospholipid antibody 
syndrome, myeloproliferative disorders, heparin-induced thrombocytopenia, liver disease, nephrotic syndrome, 
and prolonged air travel. Inherited thrombophilia risk factors include deficiencies in antithrombin, Protein C, 
Protein S, mutations in FVL and F2, and dysfibrinogenemias. Mixed or unknown risk factors include 
hyperhomocysteinemia, elevated levels of Factor VIII, acquired Protein C resistance in the absence of Factor V 
Leiden, and elevated levels of Factors IX and XI. 
 
Testing for thrombophilia may consist of functional testing, antigenic testing, and genetic testing. Functional 
testing for thrombophilia may include tests such as:  
    Anti-phospholipid antibody (lupus anticoagulant) 
    Protein C 
    Protein S 
    Activated Protein C resistance (a surrogate for Factor V Leiden mutation) 
    Factor VIII 
    Fibrinogen 
    C-reactive protein 
    Homocysteine levels 
 
 
Antigenic testing may be performed to identify specific glycoprotein antibodies associated with abnormal 
functional anti-phospholipid antibody studies, or to subtype deficiencies detected by decreased Protein S, 
Protein C and Antithrombin functional activity. 
 
VTE is characteristically seen in deficiencies in Protein C, Protein S and antithrombin, as well as with FVL and 
F2 mutations. This is unlike the combination of arterial and venous thrombosis associated with 
hyperhomocysteinemia and lupus anticoagulant. 
 
You can find this information in the Local Coverage Determination (LCD) MolDX: Genetic Testing for 
Hypercoagulability/Thrombophilia (Factor V Leiden, Factor II Prothrombin, and MTHFR) L36089. 
 
If you want to read these Medicare rules, you can go to this website www.medicareappeal.com.