Diagnosis: Limited neck mobility, environmental allergies, conductive hearing loss on the left accompanied by external ear abnormalities and some behavioral and attention issues, heart murmur, stage II chronic kidney disease.
Treatment: Panel testing [XomeDxPlus Trio: Whole Exome Sequencing (WES) with Mitochondrial Genome Sequencing and Deletion Analysis (genetic test, procedure code(s) 81415, 81416, 81460)
The insurer denied: Panel testing [XomeDxPlus Trio: Whole Exome Sequencing (WES) with Mitochondrial Genome Sequencing and Deletion Analysis (genetic test, procedure code(s) 81415, 81416, 81460)
The denial is overturned.

This school-aged male has limited mobility of his neck. X-rays of his neck were non-diagnostic. He is active in karate, soccer, and skiing. He is cognitively normal. He has been tested for branchiootorenal syndrome, but the DNA (deoxyribonucleic)
results were normal. He has decreased conductive hearing on the left but normal hearing on the right. He has left external ear atresia. He also has congenital absence of the right kidney, congenital hydronephrosis and stage II chronic kidney disease. Echocardiogram was normal. The patient's provider has requested whole exome sequencing to better define his diagnosis and prognosis.

The health plan should cover the proposed treatment of Panel testing [XomeDxPlus Trio: Whole Exome Sequencing (WES) with Mitochondrial Genome Sequencing and Deletion Analysis (genetic test, procedure code(s) 81415, 81416, 81460).

This patient meets criteria for whole exome sequencing. His multiple anomalies are not specific to a well-known or delineated genetic syndrome, these were noted before one year of age. The results of the WES (Whole Exome Sequencing) testing may establish a clinical diagnosis that may lead to changes in management. Comprehensive genetic counseling has been performed. Therefore WES (Whole Exome Sequencing)
should be covered, it is considered medically appropriate, and it is well supported by the authoritative, peer-reviewed, published medical literature cited below.