Use to confirm a diagnosis of acute intermittent porphyria (AIP) following a positive urine porphobilinogen (PBG) test. Use to evaluate disease risk in family members of an individual with a confirmed diagnosis of AIP.
- Patient Preparation
- Perform automated hemoglobin on EDTA whole blood before preparing for transport.
- Lavender (EDTA) or pink (K2EDTA).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Body fluid other than EDTA preserved whole blood. Clotted specimens.
- Automated hemoglobin result must be included with specimen.
- Ambient: 4 hours; Refrigerated: 1 week; Frozen: 1 month
|Component Test Code*||Component Chart Name||LOINC|
|0099550||Porphobilinogen Deaminase RBC||49228-0|
|2011401||Hemoglobin (client supplied)||718-7|
- Acute Intermittent Porphyria Enzyme
- HMB Synthase
- Hydroxymethylbilane Synthase
- Porphyria Enzyme
- Uroporphyrinogen I Synthase
- Uroporphyrinogen Synthase