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HelpTest Code PBALP Porphobilinogen and Aminolevulinic Acid, Plasma
Shipping Instructions
Ship specimens refrigerated or frozen and in amber vial to protect from light.
Necessary Information
Include a list of medications the patient is currently taking.
Specimen Required
Patient Preparation: Patient must not consume any alcohol for at least 24 hours prior to specimen collection.
Supplies: Amber Frosted Tube, 5mL (T915)
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Green top (lithium heparin), lavender top (EDTA), yellow top (ACD A or B)
Submission Container/Tube: Amber vial
Specimen Volume: 1 mL
Collection Instructions:
1. It is recommended that specimen collection occur during the acute phase. Porphobilinogen and aminolevulinic acid may be normal when the patient is not exhibiting symptoms.
2. Centrifuge and aliquot plasma into plastic vial.
Useful For
An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria
Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria
Testing Algorithm
For more information see:
-The Heme Biosynthetic Pathway
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
PBG and ALA, PSpecimen Type
PlasmaSpecimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen (preferred) | 21 days | LIGHT PROTECTED |
| Refrigerated | 7 days | LIGHT PROTECTED |
Reference Values
Porphobilinogen: ≤0.5 nmol/mL
Aminolevulinic Acid: ≤0.5 nmol/mL
Interpretation
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, 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.
Day(s) Performed
Wednesday
Report Available
3 to 9 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82542
82135
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PBALP | PBG and ALA, P | 96911-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 38029 | Porphobilinogen, P | 17474-8 |
| 38028 | Aminolevulinic Acid, P | 79646-6 |
| 38030 | Interpretation (PBALP) | 59462-2 |
| 38031 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Clinical Reference
1.Tortorelli S, White A, Raymond K: Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong ECC, Haymond S eds. Biochemical and Molecular Basis of Pediatric Disease. 5th ed. Academic Press; 2021:503-528
2. Anderson KE, Lobo R, Salazar D, et al. Biochemical diagnosis of acute hepatic porphyria: Updated expert recommendations for primary care physicians. Am J Med Sci. 2021;362(2):113-121. doi:10.1016/j.amjms.2021.03.004