hormonal and metabolic disorders
Erythropoietic Protoporphyria and X Linked Protoporphyria
Diagnosis
Blood tests The diagnosis is made when increased levels of protoporphyrin are detected in red blood cells and blood plasma (the liquid portion of blood). The diagnosis cannot be made with testing of the urine because excess protoporphyrin is not excreted into the urine. Genetic testing may be done. Family members may also be tested to determine whether they also have the gene mutation. 