Appeal type: Lab
Decision: Unfavorable

 
We decided that the Plan does not have to pre-approve ATXN1 (ataxin 1) gene analysis (81178), ATXN2 
(ataxin 2) gene analysis (81179), ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene 
analysis (81180), ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis (81181), ATXN8OS (ATXN8 
opposite strand (81182), CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar 
ataxia) gene analysis (81184), CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, 
spinocerebellar ataxia) gene analysis (81185), molecular pathology procedure level 5 (81404), molecular 
pathology procedure level 6 (81405), molecular pathology procedure level 7 (81406), molecular pathology 
procedure level 8 (81407) and molecular pathology procedure level (81408). 
 
You asked the Plan to pre-approve genetic testing. You say that the requested testing is medically necessary. 
The Plan denied your request. The Plan says the request is not medically necessary because a search of the 
literature indicates there is no effective cure, and treatment is symptomatic; thus, results of the testing will not 
directly impact the enrollee's treatment. 
 The Plan must follow Medicare rules. Medicare rules say that items and services that are not medically 
necessary are not covered.  
 
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 not considered medically reasonable and necessary in this case. Our physician 
reviewer found the review indicates that the enrollee has chronic and progressive changes in her speech. She 
had a mild tremor which has progressed into dysmetria. She was suspected of having spinocerebellar ataxia 
syndrome. A work-up for cerebellar degeneration syndromes, including electromyography, dysautonomia 
panel, ANNA1, PCA2, Vitamin E, celiac panel, heavy metals, and copper, has been negative. A brain magnetic 
resonance imaging scan showed mild cerebellar atrophy. The record sent by her provider indicates that her 
mother and son also developed tremors. The review indicates that request is not medically necessary because in 
the case of spinocerebellar ataxia, there is no effective cure, and treatment is symptomatic; thus, results of the 
testing will not directly impact treatment.  The review has determined that the request does not meet the 
coverage criteria. The review has determined that the items/services at issue in this case are not medically 
reasonable or necessary. 
 
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 not been met. Therefore, we decided that the Plan does not 
have to pre-approve ATXN1 (ataxin 1) gene analysis (81178), ATXN2 (ataxin 2) gene analysis (81179), 
ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis (81180), ATXN7 (ataxin 
7) (eg, spinocerebellar ataxia) gene analysis (81181), ATXN8OS (ATXN8 opposite strand (81182), 
CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis 
(81184), CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene 
analysis (81185), molecular pathology procedure level 5 (81404), molecular pathology procedure level 6 
(81405), molecular pathology procedure level 7 (81406), molecular pathology procedure level 8 (81407) and 
molecular pathology procedure level (81408).