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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 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: 
o Anti-phospholipid antibody (lupus anticoagulant) 
o Protein C 
o Protein S 
o Activated Protein C resistance (a surrogate for Factor V Leiden mutation) 
o Factor VIII 
o Fibrinogen 
o C-reactive protein 
o 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 Factor V Leiden (FVL) and F2 mutations. This is unlike the combination of arterial and venous thrombosis associated 
with hyperhomocysteinemia and lupus anticoagulant. 
 
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: 
o There is no evidence that knowledge of FVL/F2 mutation status in patients with VTE affects 
anticoagulation treatment to avoid recurrence; 
o There is convincing evidence that anticoagulation beyond three months reduces recurrence of VTE, 
regardless of mutation status; 
o 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 (See note). 
Note: The Medicare benefit applies only to individuals with signs and symptoms of disease. There is no 
Medicare benefit for assessment of thrombosis risk in asymptomatic patients (aka screening for inherited 
thrombophilia) or in asymptomatic individuals whose relatives have documented inherited thrombophilia. 
 
In 2008, the American College of Chest Physician's (ACCP) published guidelines for the treatment of 
thromboembolic disease stated the following concerning genetic testing for thrombophilia: 
- The presence of hereditary thrombophilia has not been used as a major factor to guide duration of 
anticoagulation for VTE in these guidelines because evidence from prospective studies suggests that 
these factors are not major determinates of the risk of recurrence. 
In the 2012, ACCP Clinical Practice Guidelines, Guyatt
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 and Bates
3
 make the following recommendations for 
treatment and management of VTE: 
o In persons with asymptomatic thrombophilia (i.e., without a previous history of VTE), we recommend 
against the long term daily use of mechanical or pharmacologic thromboprophylaxis to prevent VTE; 
o For pregnant women with no prior history of VTE who are known to be homozygous for factor V 
Leiden or the prothrombin 20210A mutation and have a positive family history for VTE, we suggest 
antepartum prophylaxis with prophylactic or intermediate dose low molecular weight heparin (LMWH) 
and postpartum prophylaxis for 6 weeks with prophylactic or intermediate dose LMWH or vitamin K 
antagonists (VKAs) targeted at INR 2.0 to 3.0 rather than no prophylaxis; 
o For all pregnant women with prior VTE, we suggest postpartum prophylaxis for 6 weeks with 
prophylactic or intermediate dose LMWH or VKAs targeted at INR 2.0 to 3.0 rather than no 
prophylaxis; 
o For pregnant women at low risk of recurrent VTE (single episode of VTE associated with a transient 
risk factor not related to pregnancy or use of estrogen), we suggest clinical vigilance antepartum rather 
than antepartum prophylaxis; 
o For pregnant women at moderate to high risk of recurrent VTE (single unprovoked VTE, pregnancy or 
estrogen-related VTE, or multiple prior unprovoked VTE not receiving long term anticoagulation), we 
suggest antepartum prophylaxis with prophylactic or intermediate-dose LMWH rather than clinical 
vigilance or routine care. In the 2013, American Congress of Obstetricians and Gynecologists (ACOG) clinical management guidelines 
for inherited thrombophilia in pregnancy, ACOG experts note that the following guidelines are based on 
limited or inconsistent scientific evidence: 
 
"Screening for thrombophilia is controversial. It is useful only when results will affect management decisions, 
and it is not useful in situations where treatment is indicated for other risk factors. 
Screening may be considered in the following clinical settings: 
- A personal history of VTE that was associated with a non-recurrent risk factor (eg, fractures, surgery, 
and prolonged immobilizations). 
- A first-degree relative (e.g., parent or sibling) with a history of high-risk thrombophilia." (See ACOG 
note below) 
ACOG also stated that testing for inherited thrombophilia in women who have experienced recurrent fetal loss 
or placental abruption is not recommended because it is unclear if anticoagulation therapy reduces recurrence. 
They indicate that there is insufficient clinical evidence that antepartum prophylaxis with unfractionated 
heparin or LMWH prevents recurrence in these patients and note insufficient evidence to either screen for or 
treat women with inherited thrombophilia including complications such as fetal growth restriction or 
preeclampsia. 
 
On behalf of the American College of Medical Genetics (ACMG) Grody
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 recommended testing for FVL for 
the following indications: 
o Age under 50, any venous thrombosis; 
o Venous thrombosis in unusual sites (such as hepatic, mesenteric, and cerebral veins); 
o Recurrent venous thrombosis; 
o Venous thrombosis and a strong family history of thrombotic disease; 
o Venous thrombosis in pregnant women or women taking oral contraceptives; 
o Relatives of individuals with venous thrombosis under age 50; 
o Myocardial infarction in female smokers under age 50. 
ACMG suggested that FVL testing may also be considered in the following situations: 
o Venous thrombosis, age over 50, except when active malignancy is present; 
o Relatives of individuals known to have FVL. Knowledge that they have the FVL mutation may 
influence management of pregnancy and may be a factor in decisionmaking regarding oral 
contraceptive use; 
o Women with recurrent pregnancy loss or unexplained severe preeclampsia, placental abruption, 
intrauterine fetal growth retardation, or stillbirth. Knowledge of FVL carrier status may influence 
management of future pregnancies. 
FVL testing is not recommended for the following: 
o A general population screen; 
o A routine initial test during pregnancy or prior to the use of oral contraceptives, hormone replacement 
therapy (HRT) or selective estrogen receptor modulators (SERMs); 
o A prenatal or newborn test, or as a routine test in asymptomatic children; 
o A routine initial test in individuals with arterial thrombosis (testing may be considered, however, in 
selected young individuals [under age 50] with unexplained arterial thrombosis in the absence of other 
risk factors for atherosclerotic vascular disease). In 2013, (ACMG) published a practice guideline on the lack of evidence for MTHFR polymorphism testing. 
Among a number of recommendations, ACMG experts concluded: 
- MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for 
thrombophilia or recurrent pregnancy loss; 
- MTHFR polymorphism genotyping should not be ordered for at-risk family members. 
Non-coverage Summary 
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. 
 
The population for which genetic testing results have direct implications for treatment is pregnant women with 
a previous history of VTE associated with a transient risk factor (e.g., surgery, trauma). These women would 
typically not be treated with antepartum anticoagulant prophylaxis unless they were found to have a genotype 
associated with a high risk of VTE recurrence (FVL homozygosity, F2 G20210A homozygosity, or compound 
heterozygosity for FVL and F2 G20210A). Genetic testing for these patients is indicated. 
 
There may also be benefit to screening pregnant women with a family history of known thrombophilia, as those 
women found to have a high-risk genotype would be offered antenatal prophylactic anticoagulant therapy even 
in the absence of a personal history of VTE. However, the Medicare benefit applies only to patients with signs 
and symptoms of disease and does not include screening in asymptomatic patients. 
 
Finally, despite many earlier publications suggesting a link between MTHFR polymorphisms and a risk for a 
wide spectrum of obstetric and cardiovascular complications, it is now accepted that MTHFR genotype alone is 
not associated with VTE. There is no clinical indication for MTHFR genotyping in any population. 
 
There is insufficient evidence in the published peer-reviewed scientific literature to support coverage for 
genetic testing for inherited thrombophilias outside the pregnant women as described above. Genetic testing for 
FVL and F2 G20210A is considered investigational for all other indications. However, Medicare may consider 
coverage for FVL and/or F2 genetic testing in unusual circumstances where testing will change clinical 
management of the patient. Denied claims can be appealed with supporting evidence of specific medical 
necessity. Only providers with evidence of formal training with board eligibility or certification in 
hematology/oncology, hematopathology or coagulation disorders at an accredited program satisfy reasonable 
and necessary criteria for these tests. There is broad consensus in the medical literature that MTHFR 
genotyping has no clinical utility in any clinical scenario. This testing is considered investigational and is NOT 
a Medicare benefit. 

You can find this rule at the Medicare Local Coverage Determination (LCD) L36400: MolDX: Genetic Testing 
for Hypercoagulability/Thrombophilia (Factor V Leiden, Factor II Prothrombin, and MTHFR). 
 
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.