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Test Code PBGU Porphobilinogen, Quantitative, Random, Urine

Reporting Name

Porphobilinogen, QN, Random, U

Useful For

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Urine


Shipping Instructions


Ship specimen protected 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 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 above 5.0.

3. Specimens should be protected from light and frozen immediately following collection.


Specimen Minimum Volume

15 mL

Specimen Stability Information

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

Reference Values

≤1.3 mcmol/L

Day(s) Performed

Monday through Friday

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

84110

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PBGU Porphobilinogen, QN, Random, U 2811-8

 

Result ID Test Result Name Result LOINC Value
29365 Porphobilinogen, U 2811-8
29366 Interpretation (PBGU) 59462-2
35032 Reviewed By 18771-6

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, 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.

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. 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 July 5, 2024. 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

Report Available

2 to 4 days

Method Name

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