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Test Code PPFE Protoporphyrins, Fractionation, Whole Blood

Reporting Name

Protoporphyrins, Fractionation, WB

Useful For

Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria

 

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

Testing Algorithm

This test should not be ordered in conjunction with PEE / Porphyrins Evaluation, Whole Blood.

 

The following information is available:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

-The Heme Biosynthetic Pathway

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Ordering Guidance


This test is for assessment for protoporphyria. The preferred test for 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. This test should not be ordered with PEE / Porphyrins Evaluation, Whole Blood



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 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), or lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions: Refrigerate specimen as soon as possible.


Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated 7 days

Reference Values

FREE PROTOPORPHYRIN

<20 mcg/dL

 

ZINC-COMPLEXED PROTOPORPHYRIN

<60 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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PPFE Protoporphyrins, Fractionation, WB 94490-0

 

Result ID Test Result Name Result LOINC Value
2327 Zinc-Complexed Protoporphyrin 2895-1
2326 Free Protoporphyrin 94491-8
29511 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 DJ, Bennett MJ, Wong EDD, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

2. Phillips JD. Heme biosynthesis and the porphyrias. Mol Genet Metab. 2019;128(3):164-177. doi:10.1016/j.ymgme.2019.04.008

3. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-Linked sideroblastic anemia and the porphyrias. In: Valle DL, 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 L, et al. C-terminal 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

Report Available

3 to 5 days

Method Name

High-Performance Liquid Chromatography (HPLC) with Fluorescence Detection