Test Code PPFWE Protoporphyrins, Fractionation, Washed Erythrocytes
Reporting Name
Protoporphyrins, Fractionation, RBCUseful For
Preferred test for analysis of erythrocyte protoporphyrin fractions
Preferred test for evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria
Establishing a biochemical diagnosis of erythropoietic protoporphyria, or X-linked dominant protoporphyria
Testing Algorithm
This test should not be ordered in conjunction with PEWE / Porphyrins Evaluation, Washed Erythrocytes.
The following algorithms are available:
-Porphyria (Acute) Testing Algorithm
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
Washed RBCOrdering Guidance
This test is for assessment for protoporphyria, an erythropoietic porphyria. 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.
Necessary Information
1. Volume of packed cells and total volume of specimen (red cells + saline) are required and must be sent with specimen.
2. Include a list of medications the patient is currently taking.
Specimen Required
All porphyrin tests on erythrocytes can be performed on 1 tube.
Patient Preparation: Patient must not consume any alcohol for 24 hours before specimen collection.
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Dark blue top (metal free heparin), green top (lithium heparin), or lavender top (EDTA)
Submission Container/Tube: Plastic vial
Specimen Volume: Entire washed erythrocyte suspension
Collection Instructions: Collect and process whole blood specimen as follows:
1. Transfer entire specimen to a 12-mL graduated centrifuge tube.
2. Centrifuge specimen at 4° C for 10 minutes at 2000 rpm.
3. Record volume of packed cells and the total volume of the specimen.
4. Discard supernatant plasma.
5. Wash packed erythrocytes 2 times by resuspension of at least an equal amount of cold 0.9% saline, mix, and centrifuge for 5 minutes at 2000 rpm, discarding supernatant after each washing.
6. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.
7. Transfer washed erythrocytes into a plastic vial and freeze.
Specimen Minimum Volume
1 mL of washed and resuspended erythrocytes
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Washed RBC | Frozen (preferred) | 14 days | |
Refrigerated | 14 days |
Special Instructions
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 |
---|---|---|
PPFWE | Protoporphyrins, Fractionation, RBC | 94490-0 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
31932 | Zinc-Complexed Protoporphyrin | 2895-1 |
31933 | Free Protoporphyrin | 94491-8 |
INTP6 | Interpretation | 59462-2 |
BG571 | Total cell suspension | 94496-7 |
BG572 | Packed cell volume | 94497-5 |
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 daysMethod Name
High-Performance Liquid Chromatography (HPLC) with Fluorescence Detection
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.