P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants

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The committee voted to deny 24/82 (29%) tests, with the most common reason being the existing diagnosis explained the patient's symptoms (15/24 cases; 62%), followed by phenotypic expansion/additional information regarding a newly described condition (6/24; 25%).Two tests were denied as having no clinical utility and one was denied because the test ordered did not match the phenotype described.The total cost savings of these efforts was $79,835.Conclusion: Test utilization review by committee is a useful tool in preventing inappropriate genetic testing and its associated financial burden for families, while reducing the potential for conflict between providers and GCs.In addition, it promotes education of providers as phenotypes of newly described disorders evolve.The inclusion of committee members from multiple subspecialties helps build relationships between the laboratory and clinical providers, enhances the depth of clinical expertise, and fosters an appreciation of the nuances of complex patient care and diagnosis of rare disease.

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