Diagnosis: Cerebellar vermis hypoplasia, developmental delays, ataxic gait, and unspecified convulsions

Treatment: Whole exome sequencing (WES) evaluation of unexplained congenital or neurodevelopmental disorder

The insurer denied coverage for WES evaluation of unexplained congenital or neurodevelopmental disorder

The denial is overturned

This case involves a female with history of cerebellar vermis hypoplasia, developmental delays, ataxic gait, and unspecified convulsions who is being recommended for WES evaluation of unexplained congenital or neurodevelopmental disorders.

An appeal letter indicated that the most efficient and cost-effective way to identify a genetic diagnosis would be to perform WES genetic testing. The results will have a direct impact on the patient's treatment and management and would provide prognostic information that would assist in clinical management.

The patient received a notice of adverse determination stating that there was little detailed history had been provided. There was no documentation of description or severity of delays or prior work-up completed up to that point. Additionally, there was no detailed clinical history or family history that suggested a genetic etiology or documentation that clinical presentation did not fit a single well described syndrome or that may describe two or more syndromes making WES more practical than separate single gene tests or panels. In addition, there were no specific documents pertaining to how test results would impact to the patient's care and/or treatment and/or management or clinical outcome.

The most recent neurology visit note stated that the patient had several unexplained episodes. Her primary symptoms included episodes of pallor, vomiting, and sleeping for a few hours.

Literature has stated that WES is a powerful tool for patients with undiagnosed genetic disorders. It is an effective diagnostic tool to pinpoint rare genetic alterations in an unbiased and efficient way for patients who have failed to receive a diagnosis despite extensive testing and work-up. This testing can also help to provide information for disease specific treatments such as epilepsy. The information provided for the review indicated that the patient had a history of isolated vermian hypoplasia, developmental delays (including gross motor delay and ataxic gait), unspecified convulsions, and abnormal imaging of unknown etiology. The physician was recommending WES given that this can identify multiple potential causes of the patient's symptoms and can help direct treatment planning more effectively. This would help to eliminate the need for several individual studies, which can be obtained with the 1 test. Based upon the provided information, it was determined that the requested services were justified. As such, the request for WES evaluation of unexplained congenital or neurodevelopmental disorder is medically necessary.

The health plan did not act reasonably with sound medical judgment in the best interest of the patient.

The insurer's denial of coverage for whole exome sequencing (WES) evaluation of unexplained congenital or neurodevelopmental disorder is overturned. Medical Necessity is substantiated.