Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, it can be more difficult to diagnose.

Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.

More tests may be needed to confirm the type of porphyria you have. Genetic testing and counseling may be recommended in the family of a person with porphyria.