Appeal type: Experimental/Investigational
Decision: Overturned

Nature of Statutory Criteria/Case Summary: An enrollee has requested authorization and coverage for the genetic testing for SEPT9 mutation analysis for evaluation of the enrollee, who has a history of recurrent pain and weakness involving the right shoulder and scapular muscles. Findings:  2/3 of the physician reviewers found that the patient is male with recurrent episodes of pain and weakness to his right upper back and shoulder.  In the past the patient has had a thorough workup including electrodiagnostic studies that demonstrated a brachial neuropathy.  In addition, he has had imaging that did not demonstrate a clear structural abnormality or etiology.  Lastly, the patient has a brother with similar symptoms.  To help determine if this patient has a hereditary brachial plexopathy and to assess management of the patients symptoms, the provider requested SEPT9 gene testing. The Health Plan denied the requested services as investigational for the evaluation of this patient. While genetic testing is not indicated with patients with shoulder pain and muscle weakness, it does have a medical indication in cases such as this one.  In this patients case, it is clinically important to determine if the patient has a hereditary cause for his neuralgic amyotrophy versus an inflammatory sporadic cause as immunosuppressants would be considered in the latter of these two conditions.  Without a proper diagnosis, the patient would be at risk of either undertreatment or treatment with an unnecessary medication that may have untoward side effects.  Therefore, the requested services would help guide management and would be beneficial for the treatment of this patient.  All told, the requested genetic testing for SEPT9 mutation analysis is likely to be more effective than other standard methods for the evaluation of this patient. Final Result: 2/3 of the reviewers determined that the requested services are likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be overturned. Credentials/Qualifications: Physician reviewer number one is board certified neurology with sub-specialty certification in neuromuscular medicine and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number two is board certified in physical medicine and rehabilitation with sub-specialty certification in neuromuscular medicine and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number three is board certified in neurology and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.