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Decision: unknown

 
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 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 information in the Local Coverage Determination (LCD) MolDX: Genetic Testing for 
Hypercoagulability / Thrombophilia (Factor V Leiden, Factor II Prothrombin, and MTHFR) L35984. 
 
If you want to read these Medicare rules, you can go to this website www.medicareappeal.com.