Evaluate patients with suspected porphyria presenting with neurologic/psychiatric, abdominal, and/or cutaneous symptoms.
High Performance Liquid Chromatography/Ion Exchange Chromatography/Quantitative Spectrophotometry
24-hour or random urine. Refrigerate 24-hour specimens during collection.
Protect from light. Transfer 8 mL aliquot to an ARUP Amber Transport Tube. (Min: 4 mL) Record total volume and collection time interval on transport tube and test request form.
Body fluids other than urine.
Ambient: Unacceptable; Refrigerated: 4 days; Frozen: 1 month
|Uroporphyrin||0-4 µmol/mol crt|
|Heptacarboxylate Porphyrin||0-2 µmol/mol crt|
|Coproporphyrin I||0-6 µmol/mol crt|
|Coproporphyrin III||0-14 µmol/mol crt|
|Porphobilinogen, Urine||0.0-8.8 µmol/L|
|Porphobilinogen, Urine (24-hour)||0.0-11.0 µmol/d|
|0020473||Creatinine, Urine - per 24h||
Results are normalized to creatinine concentration and reported as a ratio of amounts (micromoles of porphyrin/moles of creatinine).
Per 24h calculations are provided to aid interpretation for collections with a duration of 24 hours and an average daily urine volume. For specimens with notable deviations in collection time or volume, ratios of analytes to a corresponding urine creatinine concentration may assist in result interpretation.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
Urine porphyrins are useful for the evaluation of cutaneous photosensitivity to exclude porphyria cutanea tarda (PCT). Urine porphobilinogen (PBG) is useful for the evaluation of neurologic and/or psychiatric symptoms to exclude acute porphyrias such as acute intermittent porphyria (AIP).
|Component Test Code*||Component Chart Name||LOINC|
|0020207||Creatinine, Urine - per volume||2161-8|
|0020208||Creatinine, Urine - per 24h||2162-6|
|0080262||Porphobilinogen (PBG), Urine -per volume||2811-8|
|0080365||Uroporphyrin - ratio to CRT||32043-2|
|0080366||Heptacarboxylate - ratio to CRT||38175-6|
|0080369||Porphobilinogen (PBG), Urine -per 24h||14882-5|
|0080459||Porphyrin Urine Interpretation||49292-6|
|2002059||Coproporphyrin I - ratio to CRT||45313-4|
|2002061||Coproporphyrin III - ratio to CRT||45315-9|
- Heptacarboxyl Porphyrin
- Hexacarboxyl Porphyrin
- Pentacarboxyl Porphyrin
- Porphyrins, Quantitative, 24-Hour Urine
- Urine Quantitative