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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 the emergence of personalized laboratory medicine has been characterized by a multitude of 
testing options which may more precisely pinpoint management needs of individual patients. As a result, the 
growing compendium of biomarkers requires a more careful evaluation by both clinicians and laboratorians as 
to what testing configurations can more optimally realize the promises of personalized medicine. There is a 
plethora of burgeoning tools, including both gene-based (genomic) and protein-based (proteomic) assay 
formats, in tandem with more conventional (longstanding) flow cytometric, cytogenetic, etc. biomarkers. 
Classified somewhat differently, there are highly diverse approaches ranging from single mutation biomarkers 
to multiple biomarker platforms, the latter of which often depend upon sophisticated biomathematical 
interpretative algorithms. This policy will provide guidance on the broad range of (recently coded) biomarkers, 
and how such a wide array of testing platforms can be best accommodated by this local Medicare 
Administrative Contractor. 
 
Medicare coverage for screening of those individuals with a family history of certain disease is covered only 
for a limited number of services as listed in the Section 280  Preventative and Screening Services of the IOM 
100-02, Medicare Benefit Policy Manual, Chapter 15. 
 
Tests performed without relationship to treatment or diagnosis of a patient with no findings or history for a 
specific illness, symptom, complaint or injury unless set exclusion are so noted in Title 42 CFR, Section 
411.15(a)(1). Local Medicare coverage of such biomarkers must be predicated upon three fundamental 
principles: 
 
First, there must be an underlying performance of acceptable, high-quality analytical validity for all such 
laboratory testing. Second, there must be an appreciation of evidence-in-transition where new biomarkers 
should be brought on-line in harmonization with their proven clinical validity/utility (CVU). Third, there must 
be a recognized decision impact of such biomarkers by the clinical community. In other words, there must be 
acceptance/uptake of specific testing into patient management.  
 
GERMLINE (HEREDITARY) MUTATIONS 
 
Medicare considers genetic testing medically necessary to establish a molecular diagnosis of an inheritable 
disease when all of the following criteria are met: 
 
     a. The beneficiary must display clinical features of an associated disease, but noting that coverage of 
molecular testing for carrier status or family studies is considered screening and is statutorily excluded from 
coverage; and 
    b. The result of the test will directly impact the treatment being delivered to the beneficiary; and 
    c. A definitive diagnosis remains uncertain after history, physical examination, pedigree analysis, genetic 
counseling, and completion of conventional diagnostic studies. 
 
Note: The following two germline hereditary mutation tests will be considered medically reasonable and 
necessary when performed for evaluation of venous thromboembolism. Refer to ICD-10 Code Group 3 in the 
related Local Coverage Article: Billing and Coding: Biomarkers Overview A56541. 
 
     a. Factor II (F2 gene) 
     b. Factor V (F5 gene) 
 
Services performed for any given diagnosis must meet all of the indications and limitations stated in this 
policy. You can find this rule in the Local Coverage Determination (LCD) Biomarkers Overview L35062. 
 
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.