Acute Intermittent Porphyria (AIP) Hereditary Coproporphyria (HCP) PBG (Porphobilinogen) Variegate Porphyria (VP)
First-order test for evaluation of a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria
1. Collect a random urine specimen.
2. No preservative necessary but pH must be >5.0.
3. Specimens should be frozen immediately following collection.
**Ship specimen protected from light.**
It is recommended that specimen collection occur during the acute phase. Porphobilinogen (PBG) may be normal when the patient is not exhibiting symptoms.
If the specimen is collected after treatment is initiated, the level of PBG excreted may be decreased.
Specimens should be frozen immediately following collection and protected from light. PBG is susceptible to degradation at high temperatures, at pH below 5.0, and on prolonged exposure to light.
Abnormal results are reported with a detailed interpretation that may include an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, and recommendations for additional testing when indicated and available, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.