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Test ID: PBALP Porphobilinogen and Aminolevulinic Acid, Plasma

Shipping Instructions

Specimens can be sent refrigerated or frozen. Protect from light.

Necessary Information

Include a list of medications the patient is currently taking.

Specimen Required

Patient Preparation: Patient should abstain from alcohol for at least 24 hours prior to specimen collection.

Supplies: Amber Frosted Tube, 5 mL (T192)

Collection Container/Tube:

Preferred: Green top (heparin)

Acceptable: Green top (lithium heparin), Lavender top (EDTA), Yellow top (ACD A or B)

Submission Container/Tube: Amber vial (T192)

Specimen Volume: 1 mL

Collection Instructions:

1. It is recommended that specimen collection occur during the acute phase. Porphobilinogen (PBG) and aminolevulinic acid (ALA) may be normal when the patient is not exhibiting symptoms.

2. Send specimen in amber vial to protect from light.


New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

PBG and ALA, P

Specimen Type


Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen (preferred) 21 days
  Refrigerated  7 days

Clinical Information

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma, and the excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias.


The porphyrias are typically classified as erythropoietic or hepatic based upon the primary site of the enzyme defect. In addition, of the 5 hepatic porphyrias, 4 typically present with acute neurological manifestations and are designated the acute porphyrias. Clinically, however, these attacks can be prolonged and chronic.


Three primary acute hepatic porphyrias: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP), are associated with neurovisceral symptoms which typically onset during puberty or later. Common symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms. A broad range of medications (including barbiturates and sulfa drugs), alcohol, infection, starvation, heavy metals, and hormonal changes may precipitate crises. Photosensitivity is not associated with AIP, but may be present in HCP and VP.


Plasma porphobilinogen (PBG) and aminolevulinic acid (ALA) are elevated during the acute phase of these neurologic porphyrias. Urine and fecal porphyrin analysis should be performed to confirm the diagnosis and to distinguish among AIP, HCP, and VP. A biochemical diagnosis of AIP can be confirmed by measurement of PBG deaminase activity (PBGD_ / Porphobilinogen Deaminase [PBGD], Whole Blood). VP and HCP can be confirmed by measurement of fecal porphyrins (FQPPS / Porphyrins, Feces). Once the biochemical diagnosis of an acute porphyria is established, molecular genetic testing is available for AIP (HMBSZ / HMBS Gene, Full Gene Analysis), HCP (CPOXZ / CPOX Gene, Full Gene Analysis), or VP (PPOXZ / PPOX Gene, Full Gene Analysis) which allows for diagnosis of at-risk family members.


The very rare (<10 cases described) autosomal recessive aminolevulinic acid dehydratase deficiency porphyria (ADP) is also a primary acute porphyria causing neurovisceral symptoms. It presents in childhood and biochemically, it is characterized by an isolated significant elevation of aminolevulinic acid (ALA). More commonly, however, isolated elevations of ALA are due to secondary inhibition of ALA dehydratase. Among the secondary causes, acute lead intoxication results in the highest degree of aminolevulinic aciduria. Less significant elevations are seen in chronic lead intoxication and tyrosinemia type I.


The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm in Special Instructions or contact Mayo Medical Laboratories to discuss testing strategies.

Reference Values

Porphobilinogen: ≤0.5 nmol/mL

Aminolevulinic Acid: ≤0.5 nmol/mL


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.

Clinical Reference

1. Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. Edited by DJ Dietzen, MJ Bennett, ECC Wong. AACC Press 2010; pp 307-324

2. Sardh E, Harper P, Andersson D, Floderus: Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks. Eur J Intern Med 2009 Mar;20(2):201-207

3. Floderus Y, Sardh E, Moller C, et al: Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of acute intermittent porphyria gene with increased porphyrin precursor excretion. Clin Chem 2006 Apr;52(4):701-707

4. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism- porphyrins, iron, and bilirubin. In Tietz

Textbook of Clinical Chemistry. Fifth edition. Edited by CA Burtis, ER Ashwood. Philadelphia, PA, WB Saunders Company, 2001, pp 584-607

5. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias. In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al: New York, NY, McGraw-Hill, 2014. Accessed July 13, 2015. Available at

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

Analytic Time

2 days (not reported on Saturday or Sunday)

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82542-- Porphobilinogen, P

82135-- Aminolevulinic Acid, P

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PBALP PBG and ALA, P In Process


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 In Process
Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: