Test Catalog

Test Id : PBGU

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Porphobilinogen, Quantitative, Random, Urine

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Porphobilinogen, QN, Random, U

Aliases
Lists additional common names for a test, as an aid in searching

Acute Intermittent Porphyria (AIP)

Hereditary Coproporphyria (HCP)

PBG (Porphobilinogen)

Variegate Porphyria (VP)

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Urine

Shipping Instructions

Necessary Information

Include a list of medications the patient is currently taking.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

Supplies: Urine Container-Amber, 60 mL (T596)

Specimen Volume: 20 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative necessary but pH must be above5.0.

3. Specimens should be frozen immediately following collection.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

15 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 7 days LIGHT PROTECTED
Refrigerated 7 days LIGHT PROTECTED

Useful For
Suggests clinical disorders or settings where the test may be helpful

First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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 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, hepatic porphyrias can be further classified as chronic or acute, based on their clinical presentation.

 

The primary acute hepatic porphyrias: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP), are associated with neurovisceral symptoms that 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.

 

Urinary porphobilinogen (PBG) is elevated during the acute phase of the neurologic porphyrias. Urine and fecal porphyrin analysis should be performed to confirm the diagnosis and to distinguish between AIP, HCP and VP. A biochemical diagnosis of AIP can be confirmed by measurement of PBG deaminase activity (PBGD_ / Porphobilinogen Deaminase, 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 (APGP / Acute Porphyria Gene Panel, Varies), which allows for diagnosis of at-risk family members.

 

The workup of patients with a suspected porphyria is most effective when following a stepwise approach.

 

For more information, see the following or call 800-533-1710 to discuss testing strategies:

-The Heme Biosynthetic Pathway 

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

< or =1.3 mcmol/L

Interpretation
Provides information to assist in interpretation of the test results

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, and 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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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

 

If the specimen is collected after treatment is initiated, the level of PBG excreted may be decreased.

 

Specimens should be protected from light and frozen immediately following collection. PBG is susceptible to degradation at high temperatures, at pH below 5.0, and on prolonged exposure to light.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism-porphyrins, iron, and bilirubin. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 5th ed. WB Saunders Company; 2001:584-607

3. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed January 10, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225540906

4. 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 Aug;362(2):113-121. doi: 10.1016/j.amjms.2021.03.004

Method Description
Describes how the test is performed and provides a method-specific reference

Porphobilinogen (PBG) in urine is quantified by liquid chromatography tandem mass spectrometry after addition of stable isotope-labeled PBG internal standard and solid phase extraction.(Ford RE, Magera MJ, Kloke KM, et al: Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry. Clin Chem. 2001 September;47[9]:1627-1632; Stolzel U, Doss MO, Schuppan D: Clinical guide and update on porphyrias. Gastroenterology. 2019 Aug;157(2):365-381.e4. doi: 10.1053/j.gastro.2019.04.050)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 4 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 week

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

84110

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PBGU Porphobilinogen, QN, Random, U 2811-8
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
29365 Porphobilinogen, U 2811-8
29366 Interpretation (PBGU) 59462-2
35032 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports