Protoporphyrins, Fractionation, Whole Blood

Casandra

Casandra Test Code MC50800Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PPFECPT Code 82542

Protoporphyrins, Fractionation, Whole Blood

Clinical Use

Use

This test is used for evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria. It helps establish a biochemical diagnosis of these disorders, which are characterized by cutaneous photosensitivity. Symptoms include itching, erythema, and burning sensations in sun-exposed areas. Erythropoietic protoporphyria results from diminished ferrochelatase, leading to increased free protoporphyrin levels. X-linked dominant protoporphyria results from variants in the ALAS2 gene, causing increased erythrocyte levels of free and zinc-complexed protoporphyrin.

Special Instructions

This test should not be ordered in conjunction with Porphyrins Evaluation, Whole Blood. Patients must abstain from alcohol for 24 hours before specimen collection. For non-electronic orders, a Biochemical Genetics Test Request form should be sent with the specimen.

Limitations

Improper specimen collection or handling can cause diagnostic confusion. Alcohol consumption suppresses enzyme activity, leading to potential false-positive results. This test is not FDA-approved but is developed in accordance with CLIA requirements. The test is most informative for erythropoietic and X-linked dominant protoporphyrias and may not detect other porphyrias.

Test Details

New York Approved