The evaluation of porphyria begins with a history and physical examination.

Physical findings in someone with porphyria may include:

• Red rash:
• Occurs on skin exposed to the sun
• Blisters:
• Form on the hands and arms, or the face
• Arm numbness (bilateral)
• Leg numbness (bilateral)
• Decreased deep tendon reflexes
• Rapid pulse
• High blood pressure
• Fever

The diagnosis of porphyria requires blood and urine tests.

Tests that may be used to evaluate porphyria include:

• Complete blood count
• Kidney profile
• Urinalysis
• Blood porphyrins
• Urine porphobilinogens
• Urine porphyrins
• Blood assays for enzymes involved in heme metabolism