Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX)

Diagnosis and management of porphyrias require appropriate biochemical testing. Tests available to practicing physicians in the US are not consistent and depend greatly on what is offered by individual laboratories. In addition, harmonization, whereby results and interpretations from different laboratories are comparable, is not assured. Members of American Porphyrias Expert Collaborative (APEX) recommend that specific tests should be available to all physicians in the US for diagnosis and monitoring of porphyrias, and that harmonization of laboratory practices and results reporting across laboratories should be achieved. These efforts will lead to the development and more effective implementation of guidelines for the diagnosis and monitoring of porphyrias by both community providers and porphyria expert centers.