||Factor II/Prothrombin Testing for Thrombophilia
||July 1, 2018
||July 2, 2018
Prothrombin thrombophilia is a genetic disorder that increases one’s risk for developing abnormal blood clots (venous thromboembolism or VTE). It is caused by a genetic change, or mutation, in the F2 gene called G20210A.
This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.
|Policy Position Coverage is subject to the specific terms of the member’s benefit plan.|
Factor II/Prothrombin testing for thrombophilia testing may be considered medically necessary in individuals who meet ANY of the following criteria:
- Provoked venous thromboembolism (VTE) at a young age (less than 50 years); or
- Recurrent VTE; or
- Unusual VTE site, such as those involving the hepatic, portal, mesenteric, or cerebral veins; or
- VTE associated with pregnancy or oral contraceptive use; or
- VTE associated with hormone replacement therapy, selective estrogen receptor modulators (SERMs), or tamoxifen; or
- Personal and close family history of VTE; or
- Unprovoked VTE at any age; or
- Family history of venous thrombosis at a young age (less than 50 years); or
- Women experiencing recurrent pregnancy loss; or
- Women with a history of other unexplained poor pregnancy outcomes, including severe preeclampsia, placental abruption, fetal growth retardation, and stillbirth; or
- Family history of prothrombin gene mutation, particularly when results may impact oral contraceptive use or pregnancy management; or
- Myocardial infarction before age 50, particularly in female smokers.
|Professional Statements and Societal Positions|
Consensus guidelines from the College of American Pathologists (CAP, 2002) related to diagnostic issues in thrombophilia have been issued. These guidelines were obtained by evaluating the literature since 1996 and were accepted if 70% consensus were reached. The guidelines are summarized below:
- Prothrombin G20210A testing should be performed in the following individuals:
- A first VTE before age 50 years
- A first unprovoked VTE at any age
- A history of recurrent VTE
- Venous thrombosis at unusual sites such as the cerebral, mesenteric, portal, or hepatic veins
- VTE during pregnancy or the puerperium
- VTE associated with the use of oral contraceptives or hormone replacement therapy (HRT)
- A first VTE at any age in an individual with a first-degree family member with a VTE before age 50 years
- Women with unexplained fetal loss after the first trimester
- Prothrombin G20210A testing may be considered in the following individuals/circumstances, but is more controversial:
- Selected women with unexplained early-onset severe preeclampsia, placental abruption, or significant intrauterine growth retardation
- A first VTE related to tamoxifen or other selective estrogen receptor modulators (SERM)
- Female smokers under age 50 years with a myocardial infarction
- Individuals older than age 50 years with a first provoked VTE in the absence of malignancy or an intravascular device
- Asymptomatic adult family members of people with one or two known prothrombin G20210A alleles, especially those with a strong family history of VTE at a young age
- Asymptomatic female family members of people with known prothrombin thrombophilia who are pregnant or considering oral contraception or pregnancy
- Prothrombin G20210A testing is not recommended for the following:
- General population screening
- Routine initial testing during pregnancy
- Routine initial testing prior to the use of oral contraceptives, HRT, or SERMs
- Prenatal or newborn testing
- Routine testing in asymptomatic children
- Routine initial testing in adults with arterial thrombosis
A consensus statement from the American College of Medical Genetics (ACMG, 2001) on factor V Leiden mutation analysis also provided guidance about prothrombin testing. These older guidelines generally agree with the CAP guidelines of 2002.
An Agency for Health Care Research and Quality supported systematic review (AHRQ, 2009) found that, while mutation analysis is effective at identifying prothrombin mutations, "the incremental value of testing individuals with VTE for these mutations is uncertain. The literature does not conclusively show that testing individuals with VTE or their family members for FVL or prothrombin G20210A confers other harms or benefits. If testing is done in conjunction with education, it may increase knowledge about risk factors for VTE."
- Evaluation of Genomic Applications in Practice and Prevention Working Group (EGAPP, 2011) found sufficient evidence to recommend against Prothrombin mutation analysis in the following scenarios: Adult with idiopathic VTE and
- Asymptomatic adult family members of patient with VTE, and a Prothrombin gene mutation for the purpose of considering primary prophylactic anticoagulation.
|Place of Service: Outpatient|
Factor II/Prothrombin testing for thrombophilia is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.
|The policy position applies to all commercial lines of business|
Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.
Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.
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