Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) Stable Isotope Dilution Analysis
Biochemical diagnosis of acute, neurologic porphyrias, including actute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).
< or = 1.3 mcmol/L
2 - 6 days
- Porphobilinogen, QN, Random, U
Collect random urine specimen. Freeze. Protect specimen from light.
Protect specimen from light.
Increased urinary PBG excretion in the presence of suggestive clinical symptoms is consistent with a biochemical diagnosis of actute porphyrias. A diagnosis of AIP can be confirmed by measurement of PBG deaminase activity. HCP and VP can be confirmed by measurement of fecal porphyrins. Test sent to Mayo Medical Laboratories.