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Test Code PQNRU Porphyrins, Quantitative, Random, Urine

Important Note

Order GO23910 Generic Orderable/Misc Test

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

Cautions

This test is not appropriate for the diagnosis of conjugated or unconjugated hyperbilirubinemia syndromes such as Dubin Johnson syndrome or Rotor syndrome.

 

Porphobilinogen (PBG) and porphyrins are susceptible to degradation at high temperature, at pH below 5.0, and exposure to light.

 

Neither erythropoietic protoporphyria nor X-linked dominant protoporphyria are detected utilizing urine porphyrins and PBG measurements.

 

Ethanol and a variety of medications are known to interfere with heme synthesis leading to elevations in urine porphyrins, particularly coproporphyrin. Coproporphyrin elevation without concomitant PBG elevation should not be used as the basis for the diagnosis of porphyria but may warrant follow-up testing with fecal porphyrin analysis.

Report Available

2 to 4 days

Reject Due To

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

NY State Approved

Yes

Method Name

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

Secondary ID

60597