Diagnosis: Unilateral Coronal Synostosis.

Treatment: Craniodysmorphology Panel.

The insurer denied coverage for craniodysmorphology panel.

The denial is overturned.

According to the medical records, the patient is an infant born with right-sided unicoronal craniosynostosis. She has been scheduled to have surgery for an anterior cranial vault expansion and remodeling due to persistent right plagiocephaly. This was originally diagnosed when she was three months old. She initially had surgery. She does not appear to have any other medical problems. The doctor was also recommending that she have her blood drawn for a craniosyostosis gene panel to look for a genetic cause to "help direct care, which can lead to improved outcomes."

The scientific evidence in peer-reviewed literature supports a result of improvement in health outcome.

Regardless of the genetic and nongenetic factors underlying the disease pathogenesis, patients with a craniosynostosis need a multidisciplinary approach and close collaboration between pediatricians, neurosurgeons, psychologists, imaging specialists, geneticists, and laboratory diagnosticians. The identification of the genetic defect, although very important for disease prognosis and treatment decisions (e.g., in the case of early surgical intervention), also allows to identify the persons' genetic risks and to give proper genetic counseling for the patients' families (3)."

Genetic sequencing panels do not have Food and Drug Administration (FDA) approval for specific diagnoses. The technology itself can be used for a large number of diagnoses, known or previously unknown. Technical and clinical performance of the genetic test is supported by published peer-reviewed medical literature." Guidelines from the American College of Medical Genetics and Genomics have been established (4).

As she has coronal craniosynostosis, this patient a good candidate for a craniodysmorphology panel. This panel would be one part of a workup to find a possible reason for craniosynostosis. The surgical treatment that is also going to be performed can help correct some of the problems from the craniosynostosis. These work side-by-side but should not be considered to be replacements for each other.

This is solely a blood test, so there are no adverse risks for this service.

This testing is beneficial along with her other craniosynostosis team evaluations and her surgery. As stated by Kutkowska-Kazmierczakn A. et al..,

The carrier's denial of craniodysmorphology panel should be overturned.

The patient a good candidate for a craniodysmorphology panel and it is the best available testing for this patient at this time. The requested service is likely to be more beneficial than any of the standard testing for this patient.