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Test ID PQNRU Porphyrins, Quantitative, Random, Urine

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

Genetics Test Information

This test is preferred test during symptomatic periods for acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). The random urine collection for this test allows for the diagnosis to be established and treatment to be initiated quickly. However, this test should only be ordered when the specimen will be received at MCL within 72 hours of collection. If it will be longer, PQNU / Porphyrins, Quantitative, 24 Hour, Urine should be ordered.

 

Testing includes porphobilinogen which is useful in the evaluation of the acute porphyrias.

 

This is the preferred test to begin assessment for congenital erythropoietic porphyria (CEP) and porphyria cutanea tarda (PCT).

Method Name

High-Performance Liquid Chromatography (HPLC) with Fluorometric Detection

 

Includes quantitation of coproporphyrins, uroporphyrins, and intermediate porphyrins (heptacarboxyl, hexacarboxyl, and pentacarboxyl).

 

Includes liquid chromatography-tandem mass spectrometry (LC-MS/MS) determination of porphobilinogen.

Reporting Name

Porphyrins, QN, Random, U

Specimen Type

Urine


Ordering Guidance


This random urine test should be ordered when the specimen will reach MCL within 72 hours. If transportation will take longer than 72 hours, order PQNU / Porphyrins, Quantitative, 24 Hour, Urine.



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 abstain from alcohol for 24 hours prior to collection.

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

Container/Tube: Amber, 60-mL urine bottle (T596)

Specimen Volume: 20-50 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, OCTA

≤30 nmol/L

 

HEPTACARBOXYLPORPHYRINS

≤7 nmol/L

 

HEXACARBOXYLPORPHYRINS

≤2 nmol/L

 

PENTACARBOXYLPORPHYRINS

≤5 nmol/L

 

COPROPORPHYRINS, TETRA

≤110 nmol/L

 

PORPHOBILINOGEN

≤1.3 mcmol/L

Day(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

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 US Food and Drug Administration.

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Disease States

  • Porphyria

Report Available

2 to 4 days

NY State Approved

Yes