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Porphyria


Diagnosis & Tests

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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