Porphyria
How is the disease diagnosed?
The diagnosis of porphyria depends on the symptoms and what type of porphyria is suspected. Steps in diagnosis may include:
a medical history, and history of activity or trauma
a thorough medical exam
blood tests, including a complete blood count or CBC, which counts the number of each kind of cell in the blood
a blood test to measure porphyrins in the blood
stool tests and cultures to look for any blood, infection, or porphyrins in the stool
urine tests to check for porphyrins and lead in the urine
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