The list of medical tests mentioned in various sources as used in the diagnosis of Porphyria includes:
Porphyria is diagnosed through tests on blood, urine, and stool. (Source: excerpt from Porphyria: NIDDK)
The following medical news items are relevant to diagnosis and misdiagnosis issues for Porphyria:
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Other laboratory values may include increased serum iron levels in porphyria cutanea tarda; leukocytosis, syndrome of inappropriate antidiuretic hormone, and elevated bilirubin and alkaline phosphatase levels in acute intermittent porphyria.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Generally, diagnosis requires screening tests for porphyrins or their precursors (such as aminolevulinic acid [ALA] and porphobilinogen [PBG]) in urine, stool, or blood. Occasionally, skin biopsy may be performed. The protoporphyrin test measures porphyrins in the blood. Enzyme assays also help measure porphyrins. A urinary lead level of 0.2 mg/L confirms toxic-acquired porphyria.
Other laboratory values may include increased serum iron levels in porphy-ria cutanea tarda; leukocytosis, syndrome of inappropriate antidiuretic hormone, and elevated bilirubin and alkaline phosphatase levels in acute intermittent porphyria.
Source: Handbook of Diseases, 2003
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