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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 say that this is a non-coverage policy for genetic testing for thrombophilia testing for the Factor V 
Leiden (FVL) variant in F5 gene, the 20210G>(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. 
 
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, mutation 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. 
 
Genetic Testing for Thrombophilia 
Genetic testing is available for a number of types of inherited thrombophilia, including mutations in the FVL, 
F2 and the MTHFR genes. However, the clinical utility of testing is uncertain. The clinical utility of genetic 
testing depends on the ability of testing results to change management that results in improved clinical 
outcomes. The clinical utility of genetic testing for thrombophilia is based on the overall risk of 
thromboembolism and the risk/benefit ratio of treatment, primarily with anticoagulants. 
 
During the previous 5 years, a number of guidelines and/or position statements on testing for thrombophilia 
have been published. In 2011, The Evaluation of Genomic Applications in Practice and Prevention Working 
Groups (EGAPP) addressed genetic testing for FVL and F2 mutations. The expert consensus recommended: 
 
    There is no evidence that knowledge of FVL/F2 mutation status in patients with VTE affects anticoagulation 
treatment to avoid recurrence; 
    There is convincing evidence that anticoagulation beyond three months reduces recurrence of VTE, 
regardless of mutation status; 
    There is no evidence that knowledge of FVL/F2 mutation status among symptomatic family members of 
patients with VTE leads to anticoagulation aimed at avoiding initial episodes of VTE. 
 
Genetic testing for inherited thrombophilias is controversial. While the association between FVL and F2 
mutations and increased risk for VTE is apparent, the actual impact of this increased risk on clinical 
management is less certain. Older professional society guidelines recommend genetic testing for thrombophilia 
for a wide range of indications, while more recent consensus statements and recommendations suggest much 
more limited clinical utility of testing. You can find these rules in the Local Coverage Determination (LCD) 
MolDX: Genetic Testing for Hypercoagulability/Thrombophilia (Factor V Leiden, Factor II Prothrombin, and 
MTHFR) L36400. 
 
If you want to read these Medicare rules, you can go to this website www.medicareappeal.com. 
 
The Plan contract says that the Plan covers items and services in accordance with Medicare rules.