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22643 Protoporphyrins, Fractionation, Erythrocytes (PPFE)

Protoporphyrins, Fractionation, Erythrocytes (PPFE)
Test Code: MISC
Synonyms/Keywords
EPP (Erythropoietic Protoporphyria), Erythropoietic Protoporphyria, Free Protoporphyrin, Zinc Protoporphyrin, X-linked Dominant Protoporphyria (XLDPP or XDP)
Useful For
Evaluating patients with a possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria
 
Establishing a biochemical diagnosis of erthropoietic protoporphyria and X-linked dominant protoporphyria
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole blood Sodium-heparin Green Top Tube (GTT)​ Dark Blue Top Tube (metal free heparin) (BTT) or Lithium-heparin Green Top Tube (GTT)​ or EDTA Lavender Top Tube
Full tube​ 3 mL​
Collection Processing Instructions
​All porphyrin tests on whole blood can be performed on 1 draw tube.
 
1. Patient should abstain from alcohol for 24 hours.
2. Immediately place specimen on wet ice.
 
Additional Information: Include a list of medications the patient is currently taking.
Specimen Stability Information
Specimen Type Temperature Time
​Whole blood Refrigerated​ 7 days​
Rejection Criteria
Gross hemolysis
Performing Laboratory Information
Performing Location Day(s) Test Performed Anal​ytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday, Wednesday, Friday​
2-5 Days
High-Performance Liquid Chromatography (HPLC) with Fluorescence Detection
Reference Lab
Test Information

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma and excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias.

Testing protoporphyrin fractions is most informative for patients with a clinical suspicion of erythropoietic protoporphyria (EPP) or X-linked dominant protoporphyria (XLDPP). Clinical presentation of EPP and XLDPP is identical with onset of symptoms typically occurring in childhood. Cutaneous photosensitivity in sun-exposed areas of the skin generally worsens in the spring and summer months. Common symptoms may include itching, edema, erythema, stinging or burning sensations, and occasionally scarring of the skin in sun-exposed areas. Although genetic in nature, environmental factors exacerbate symptoms, significantly impacting the severity and course of disease.

EPP is caused by diminished ferrochelatase resulting in significantly increased free protoporphyrin levels in erythrocytes, plasma, and feces.

XLDPP is caused by gain-of-function variants in the C-terminal end of ALAS2 gene and results in elevated erythrocyte levels of free and zinc-complexed protoporphyrin in erythrocytes, and total protoporphyrin levels in plasma and feces.

Other possible causes of elevated erythrocyte zinc-complexed protoporphyrin may include:

-Iron-deficiency anemia, the most common cause

-Chronic intoxication by heavy metals (primarily lead) or various organic chemicals

-Congenital erythropoietic porphyria (CEP), a rare autosomal recessive porphyria caused by deficient uroporphyrinogen III synthase

-Hepatoerythropoietic porphyria (HEP), a rare autosomal recessive porphyria caused by deficient uroporphyrinogen decarboxylase

Reference Range Information
Free Protoporphyrin: <20 mcg/dL
Zinc-Complexed Protoporphyrin: <60 mcg/dL
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, and a phone number to reach one of the Mayo laboratory directors in case the referring physician has additional questions.
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
Synonyms/Keywords
EPP (Erythropoietic Protoporphyria), Erythropoietic Protoporphyria, Free Protoporphyrin, Zinc Protoporphyrin, X-linked Dominant Protoporphyria (XLDPP or XDP)
Ordering Applications
Ordering Application Description
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole blood Sodium-heparin Green Top Tube (GTT)​ Dark Blue Top Tube (metal free heparin) (BTT) or Lithium-heparin Green Top Tube (GTT)​ or EDTA Lavender Top Tube
Full tube​ 3 mL​
Collection Processing
​All porphyrin tests on whole blood can be performed on 1 draw tube.
 
1. Patient should abstain from alcohol for 24 hours.
2. Immediately place specimen on wet ice.
 
Additional Information: Include a list of medications the patient is currently taking.
Specimen Stability Information
Specimen Type Temperature Time
​Whole blood Refrigerated​ 7 days​
Rejection Criteria
Gross hemolysis
Useful For
Evaluating patients with a possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria
 
Establishing a biochemical diagnosis of erthropoietic protoporphyria and X-linked dominant protoporphyria
Reference Range Information
Free Protoporphyrin: <20 mcg/dL
Zinc-Complexed Protoporphyrin: <60 mcg/dL
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, and a phone number to reach one of the Mayo laboratory directors in case the referring physician has additional questions.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Anal​ytical Time Methodology/Instrumentation
Mayo Clinic Laboratories
Monday, Wednesday, Friday​
2-5 Days
High-Performance Liquid Chromatography (HPLC) with Fluorescence Detection
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82542
For most current information refer to the Marshfield Laboratory online reference manual.