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22962 Porphyrin Evaluation, Whole Blood (PEE)

Porphyrin Evaluation, Whole Blood (PEE)
Test Code: MISC
Synonyms/Keywords
Erythrocyte Porphyrin, Erythropoietic Protoporphyria (EPP), Free Erythrocyte Porphyrin (FEP), Protoporphyrin, Protoporphyrins, Total, Erythrocytes, RBC Porphyrins, Red Blood Cell Porphyrins, X-linked Dominant Protoporpyria (XLDPP or XDP)
Useful For

Establishing a biochemical diagnosis of erythropoietic 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)
​All porphyrin tests on whole blood can be performed on 1 draw tube.
Specimen must arrive within 72 hours of draw. ​
Whole blood​ ​Heparin Green Top Tube (GTT) ​Metal free, Dark Blue Top Tube (BTT) or Lithium Heparin Green Top (GTT) or EDTA Lavander Top Tube (LTT) ​Full Tube ​3 mL
Collection Processing Instructions
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
Hemolysis Gross
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories Wednesday ​3 days (not reported on Saturday or Sunday Spectrofluorometric
Reference Lab
Test Information
​Testing begins with total RBC porphyrins. If the result is <80mcg/dL, it is normal and testing is complete. If the total RBC porphyrin value is >80 mcg/dL, additional testing (fractionation assays) will be perfomed at an additional charge to identify the porphyrin involved.
Reference Range Information
Interpretive report
Interpretation
An elevation of total RBC porphyrins can be an expression of a primary or secondary defect in the biosynthesis of heme. However, the specific type of porphyria cannot be determined by total porphyrin analysis alone.
 
Total RBC porphyrin values >80 mcg/dL suggest the existence of an intoxication problem or a metabolic problem that involves accelerated erythropoiesis. If the total RBC porphyrin concentration is elevated, additional testing (fractionation assays) is required to identify and quantify the specific affected porphyrin. Increased total RBC porphyrin concentrations may be due to:
-Free protoporphyrin, the predominant form that is elevated in patients with erythropoietic protoporphyria
-Zinc protoporphyrin, elevated in patients with heavy metal intoxication or iron deficiency anemia
-Uroporphyrin and coproporphyrin, preferentially elevated in patients with congenital erythropoietic porphyria
 
A written interpretation is included with all reports. When abnormal results are detected, a detailed interpretation is given, including:
-An overview of the results and their significance
-Elements of a differential diagnosis
-Recommendations for additional biochemical testing
 
A normal RBC porphyrin evaluation does not rule out other forms of porphyria including porphyria cutanea tarda (PCT), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
84311​ ​1 Spectrophotometry
​82542 ​1 Chromatography (if appropriate)
Synonyms/Keywords
Erythrocyte Porphyrin, Erythropoietic Protoporphyria (EPP), Free Erythrocyte Porphyrin (FEP), Protoporphyrin, Protoporphyrins, Total, Erythrocytes, RBC Porphyrins, Red Blood Cell Porphyrins, X-linked Dominant Protoporpyria (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)
​All porphyrin tests on whole blood can be performed on 1 draw tube.
Specimen must arrive within 72 hours of draw. ​
Whole blood​ ​Heparin Green Top Tube (GTT) ​Metal free, Dark Blue Top Tube (BTT) or Lithium Heparin Green Top (GTT) or EDTA Lavander Top Tube (LTT) ​Full Tube ​3 mL
Collection Processing
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
Hemolysis Gross
Useful For

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

Reference Range Information
Interpretive report
Interpretation
An elevation of total RBC porphyrins can be an expression of a primary or secondary defect in the biosynthesis of heme. However, the specific type of porphyria cannot be determined by total porphyrin analysis alone.
 
Total RBC porphyrin values >80 mcg/dL suggest the existence of an intoxication problem or a metabolic problem that involves accelerated erythropoiesis. If the total RBC porphyrin concentration is elevated, additional testing (fractionation assays) is required to identify and quantify the specific affected porphyrin. Increased total RBC porphyrin concentrations may be due to:
-Free protoporphyrin, the predominant form that is elevated in patients with erythropoietic protoporphyria
-Zinc protoporphyrin, elevated in patients with heavy metal intoxication or iron deficiency anemia
-Uroporphyrin and coproporphyrin, preferentially elevated in patients with congenital erythropoietic porphyria
 
A written interpretation is included with all reports. When abnormal results are detected, a detailed interpretation is given, including:
-An overview of the results and their significance
-Elements of a differential diagnosis
-Recommendations for additional biochemical testing
 
A normal RBC porphyrin evaluation does not rule out other forms of porphyria including porphyria cutanea tarda (PCT), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories Wednesday ​3 days (not reported on Saturday or Sunday Spectrofluorometric
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
84311​ ​1 Spectrophotometry
​82542 ​1 Chromatography (if appropriate)
For most current information refer to the Marshfield Laboratory online reference manual.