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Test Code PEE Porphyrins Evaluation, Whole Blood

Important Note

  • MUST be collected at the Outpatient Lab at the Main Hospital
  • MUST place on wet ice and send to Specimen Processing

Reporting Name

Porphyrins Evaluation, WB

Useful For

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
PPFE Protoporphyrins, Fractionation, WB Yes No

Testing Algorithm

This test is recommended for screening patients for possible erythropoietic protoporphyria and X-linked dominant protoporphyria. In addition, it can be used for evaluation of iron-deficiency anemia and chronic lead intoxication. Testing begins with total erythrocyte porphyrins. If the result is below 80 mcg/dL, it is normal, and testing is complete.

 

If the total erythrocyte porphyrin value is 80 mcg/dL or above, the protoporphyrin fractionation assay will automatically be performed at an additional charge. The fractionation test results include noncomplexed (free) protoporphyrin and zinc-complexed protoporphyrin.

 

The following algorithms are available:

-Porphyria (Acute) Testing Algorithm 

-Porphyria (Cutaneous) Testing Algorithm 

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Ordering Guidance


This is the preferred test for assessment for protoporphyria. The preferred test for assessing lead toxicity in children is blood lead. For more information see PBDV / Lead, Venous, with Demographics, Blood or PBDC / Lead, Capillary, with Demographics, Blood. The preferred screening test for suspicion of a hepatic porphyria is urine porphyrins. For more information see PQNRU / Porphyrins, Quantitative, Random, Urine.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


All porphyrin tests on whole blood can be performed on 1 collection tube.

 

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

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Dark blue top (metal free heparin), green top (lithium heparin), lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions: Immediately place specimen on wet ice.


Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated 7 days

Reference Values

PORPHYRINS, TOTAL, RBC

<80 mcg/dL

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

84311

82542-if appropriate

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PEE Porphyrins Evaluation, WB 2814-2

 

Result ID Test Result Name Result LOINC Value
88886 Total Porphyrins, WB 2814-2
29356 Interpretation 59462-2

Interpretation

Abnormal results are reported with a detailed interpretation that 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 DG, Bennett MJ, Wong ECC, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

2. Badminton MN, Whatley SD, Schmitt C, Aarsand AK. Porphyrins and the porphyrias. In: Rifai N, Chiu RWK, Young I, Burnham CAD, eds. Tietz Textbook of Laboratory Medicine. 7th ed. Elsevier; 2023:419-419.e32

3. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias In: Valle D, 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. Whatley SD, Ducamp S, Gouya B, et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008;83(3):408-414

5. Balwani M, Naik H, Anderson KE, et al. Clinical, biochemical, and genetic characterization of North American patients with erythropoietic protoporphyria and X-linked protoporphyria. JAMA Dermatol. 2017;153(8):789-796

Report Available

3 to 5 days

Method Name

Spectrofluorometric