Appeal type: Lab
Decision: Favorable

 
We decided that the Plan has to pre-approve Mito Genome Sequencing and Deletion testing (81460, 81465). 
 
You asked the Plan to pre-approve genetic testing. You say that something is wrong with you, and the doctors 
must figure out what it is. You are not walking or climbing stairs that you have routinely done without 
difficulty and no other test has been conclusive. The Plan denied your request. The Plan says that the requested 
testing does not have enough proof in medical information or research by specialists that describe the safety, 
value or effectiveness (success) for this procedure. Because this proof does not exist and outcomes cannot be 
proven, the request is considered investigational. 
 
The Plan must follow Medicare rules. Medicare rules say that if there are no specific coverage rules for an item 
or service, then that item or service will be covered when it is medically necessary.  
 
We asked our physician reviewer to carefully review the case file and apply the relevant Medicare rules to 
determine if the Plan was correct in denying the request to pre-approve genetic testing. Our reviewer says that 
the requested items/services are considered medically reasonable and necessary in this case. Our physician 
reviewer found you have a diagnoses of ocular myasthenia gravis, gastrointestinal dysmotility and generalized 
weakness with a suspected mitochondrial disease. As summarized in Up to Date, Mitochondrial myopathies, 
Clinical features and diagnosis, Author: Erin O'Ferrall, MD: "Identifying causative mutations underlying 
mitochondrial dysfunction is the ultimate gold standard for the diagnosis. Genetic testing is often the first test 
requested when a mitochondrial disease is suspected after clinical evaluation with imaging and EMG. 
However, DNA variants of uncertain significance are often found; in such cases muscle biopsy, biochemical 
testing, and other tests may be helpful to support the diagnosis. Two mitochondrial diseases (MNGIE and 
coenzyme Q10 deficiency) are particularly important to identify because of potential treatments. Targeted next-
generation sequencing (NGS) panel testing for the causative genes is now the preferred approach to genetic 
testing." Mito Genome Sequencing and Deletion testing (81460 & 81465) is a next-generation sequencing test 
that detects multiple conditions including Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 
(MNGIE) and coenzyme Q10 deficiency and its use is supported in the current peer-reviewed medical 
literature. 
 
We looked at this physician's review, the file, and Medicare rules. Based on this information, we decided that 
Medicare rules for coverage of genetic testing have been met. Therefore, we decided that the Plan has to pre-
approve Mito Genome Sequencing and Deletion testing (81460, 81465).  
 
If the Plan does not agree with our decision, they can ask us to open a case again. We only open a case again 
if we believe there was a mistake or if there is new information to review. The Plan has to show us the mistake 
and/or send us the new information. This does not happen often. If we decide to open the case again, we will 
send you a letter.