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Test Code PQNRU Porphyrins, Quantitative, Random, Urine

Important Note

  • MUST protect from light

Reporting Name

Porphyrins, QN, Random, U

Useful For

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will not exceed 72 hours

Testing Algorithm

The following algorithms are available:

-Porphyria (Acute) Testing Algorithm

 

-Porphyria (Cutaneous) Testing Algorithm 

 

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Urine


Ordering Guidance


This random urine test should be ordered when the specimen will reach Mayo Clinic Laboratories within 72 hours. If transportation will take longer than 72 hours, order PQNU / Porphyrins, Quantitative, 24 Hour, Urine and follow collection guidelines.



Shipping Instructions


Ship specimen in amber bottle to protect from light.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: Patient should not consume any alcohol for the 24 hours before specimen collection.

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

Container/Tube: Amber, 60-mL urine container

Specimen Volume: 20 to 50 mL

Collection Instructions: Collect a random urine specimen.


Specimen Minimum Volume

15 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Frozen 72 hours LIGHT PROTECTED

Reference Values

Uroporphyrins, Octacarboxyl:

≤30 nmol/L

 

Heptacarboxylporphyrins:

≤7 nmol/L

 

Hexacarboxylporphyrins:

≤2 nmol/L

 

Pentacarboxyporphyrins:

≤5 nmol/L

 

Copropprphyrin, Tetracboxyl:

≤110 nmol/L

 

Porphobilinogen:

≤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-Porphobilinogen, quantitative

84120-Porphyrins, quantitation and fractionation

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PQNRU Porphyrins, QN, Random, U 93707-8

 

Result ID Test Result Name Result LOINC Value
32332 Uroporphyrin, Octa 25166-0
32333 Heptacarboxylporphyrins 34314-5
32334 Hexacarboxylporphyrins 96795-0
32335 Pentacarboxylporphyrins 34352-5
32336 Coproporphyrin, Tetra 25167-8
32337 Porphobilinogen 2811-8
32338 Interpretation 49291-8

Interpretation

Abnormal results are reported with a detailed interpretation which 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.

Clinical Reference

1. Tortorelli S, Kloke K, Raymond K. Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong EDD, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

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 September 6, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225540906&bookid=2709

4. Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. Mol Genet Metab. 2019;128(3):363-366. doi:10.1016/j.ymgme.2018.11.013

Report Available

2 to 4 days

Method Name

High-Performance Liquid Chromatography (HPLC) with Fluorometric Detection/Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)