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Test Code PQNRU Porphyrins, Quantitative, Random, Urine

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 in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Urine


Advisory Information


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) and Time(s) Performed

Monday through Friday; 9 a.m.

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

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 In Process
32335 Pentacarboxylporphyrins 34352-5
32336 Coproporphyrin, Tetra 25167-8
32337 Porphobilinogen 2811-8
32338 Interpretation 49291-8

Reject Due To

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

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.

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.