Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Seizures

Treatment: Cytogenic (genome-wide) analysis code (81229)

The insurer denied coverage for cytogenic (genome-wide) analysis code (81229)

The denial is overturned

This adolescent patient was diagnosed with absence epilepsy: generalized tonic-clonic and absence epilepsy. She experiences absence epilepsy multiple times a day with more noted when she is tired characterized by eye fluttering and staring lasting 5-10 seconds. The patient had a breakthrough seizure on Lamictal, neck started twitching, her body was tense, some head jerking, eyes rolled back, and she was unresponsive lasting less than 1 min. She was initially prescribed with ethosuximide but continued to have seizures. After her first grand mal seizure she was placed on Lamictal. The patient feels foggy with memory problems after breakthrough seizure.

Electroencephalogram (EEG) showed semi-frequent generalized spike-and-wave and polyspike-and-wave complexes, consistent with a primary generalized epilepsy and slowing of the posterior dominant rhythm which is consistent with a mild encephalopathy. No seizures were seen during the test. The ambulatory EEG, identified generalized polyspike wave discharges consistent with an idiopathic generalized epilepsy syndrome. No epilepsy seen.

The patient was presented in the pediatric neurology clinic and reported pain behind her both eyes. Denies eye redness, watery eyes, or eye swelling. Eye blinking continues, not directly happening at the same time as the eye pain, and it is not known whether these may represent seizures. Eye blinking is different from past. 

The genetic epilepsy panel revealed the patient is a carrier for QPDR (gene expression description) gene which can be associated with an autosomal recessive biopterin deficient hyperphenylalaninemia. SNP/CMA (Chromosomal Microarray analysis) was normal.

It is believed that genetic abnormalities can alter the electrical impulses, affect channel function, modify neuronal excitability, and may also disrupt pharmacokinetics of AEDs (Anti-epileptic drugs), and therefore affect treatment efficacy. Patients with a germline genetic diagnosis represent an especially challenging group, and their genetic diagnosis may tip the scales against the decision to proceed with invasive EEG study or surgical resection.

The provider recommends genetic testing as part of the work-up and evaluation. Current literature indicates genetic testing in patients with epilepsy with unknown etiology is standard in developing treatment and prognostication. In this case, the genetic testing was done to have a better understanding of the patient's diagnosis and to determine the most appropriate treatment plan. The patient has received counseling from their provider and is appropriate for the requested genetic testing based on current standards of care. The testing has been found to be safe and effective, it is offered at the most appropriate level of care, and it will have a direct impact on decision making and planning moving forward.  

Based on the above, the insurer's denial must be overturned. The health care plan did not act reasonably and with sound medical judgment and in the best interest of the patient. The medical necessity for cytogenic (genome-wide) analysis code (81229) rendered 5/2/23 is substantiated.