Enzymatic End point/Spectrofluorometric
Confirmation of a diagnosis of acute intermittent porphyria (AIP).
> or = 7.0 nmol/L sec; 6.0 - 6.9 nmol/L sec (indeterminate); <6.0 nmol/L/sec (diminished). Reference ranges have not been established for patients who are <16 years of age.
4 - 10 days
- PBG Deaminase, RBC
- Porphobilinogen Deaminase (PBG-D), RBC
- PBG Deaminase, BLOOD
Patient should abstain from alcohol for 24 hours and be off medications for 1 week prior to specimen collection. If it is clinically inappropriate to discontinue medications, forward a list of medications with the specimen. Collect blood in a green top tube from a fasting patient (12 - 14 hour fast). Place on wet ice immediately. Refrigerate and send intact whole blood within 24 hours of collection.
Fasting specimen. Place on wet ice immediately.
Test sent to Mayo Medical Laboratories.