Diagnosis: Bilateral vitreous detachment, arthritis
Treatment: 81415 - Whole exome sequencing
The health plan should cover the 81415 - Whole exome sequencing.

Whole exome sequencing is likely to be more beneficial.

The whole exome sequencing (WES) test analyzes the protein coding portion of the human genome and is offered by a number of CLIA (Clinical Laboratory Improvement Amendments)-certified diagnostic laboratories. WES does not need FDA approval as it is a genetic test based on routine molecular techniques, such as DNA isolation, enrichment, polymerase chain reaction (PCR), and DNA sequencing. The results of the tests will likely identify the underlying genetic causes of this patient's disorder and may offer an opportunity for targeted treatment. Furthermore, WES is in a wide use by clinical geneticists and is current standard of care for patients with similar complex genetic syndromes of unknown causes. Despite extensive genetic clinical and molecular evaluations, no definitive diagnosis was established for this patient. The disease is presumed to have genetic etiology, based on the clinical symptoms.

The WES has the potential to identify a mutation a gene responsible for this patient's disease. Without a specific diagnosis, it is not possible to predict what the best treatment options for this patient is, which is why the WES test is medically appropriate. Once a specific genetic diagnosis is established, the next step in the management of this patient would be to determine what the best treatment options are for her condition.

In conclusion, once a specific genetic diagnosis is established for this patient, then it can be determined what the best treatment options are. Therefore, the request for this patient in this case is medically appropriate and should be covered by the health plan.