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Test Code PEWE Porphyrins Evaluation, Washed Erythrocytes

Reporting Name

Porphyrin Evaluation, RBC

Useful For

Preferred test for analysis of erythrocyte porphyrins

 

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
PPFWE Protoporphyrins, Fractionation, RBC Yes No

Testing Algorithm

This test is recommended for screening patients for possible erythropoietic protoporphyria and X-linked 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

Method Name

Spectrofluorometric

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Washed RBC


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.

 

For suspected hepatic porphyria, the preferred screening test 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


Patient Preparation: For 24 hours before specimen collection, patient must not consume any alcohol.

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

Washed and resuspended erythrocytes: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Washed RBC Frozen (preferred) 14 days
  Refrigerated  14 days

Reject Due To

Cell suspension not available Reject

Reference Values

<80 mcg/dL

Day(s) Performed

Monday through Friday

CPT Code Information

84311-Spectrophotometry, analyte not elsewhere specified

82542-Chromatography (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PEWE Porphyrin Evaluation, RBC 2814-2

 

Result ID Test Result Name Result LOINC Value
31942 Total Porphyrins, RBC 2814-2
31943 Interpretation 59462-2
BG569 Total cell suspension 94496-7
BG570 Packed cell volume 94497-5

Clinical 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. See the Heme Biosynthetic Pathway.

 

Testing the erythrocyte porphyrin level is most informative for patients with a clinical suspicion of erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP). Clinical presentation of EPP and XLP 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.

 

Erythropoietic protoporphyria is caused by decreased ferrochelatase activity resulting in significantly increased free (noncomplexed) protoporphyrin levels in erythrocytes, plasma, and feces.

 

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

 

Protoporphyrin is the main component of erythrocyte porphyrins. When total erythrocyte porphyrins are elevated, fractionation and quantitation of zinc-complexed and free protoporphyrin are necessary to differentiate the inherited porphyrias from other causes of elevated porphyrin levels. 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, a rare autosomal recessive porphyria caused by deficient uroporphyrinogen III synthase

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

 

A stepwise approach is typically most effective when evaluating patients with suspected porphyria. See Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm or call 800-533-1710 to discuss testing strategies.

 

There are 2 test options:

-PEE / Porphyrins Evaluation, Whole Blood

-PEWE / Porphyrins Evaluation, Washed Erythrocytes.

The whole blood option is easiest for clients but requires that the specimen arrive at Mayo Clinic Laboratories within 7 days of collection. When this cannot be ensured, washed frozen erythrocytes, which are stable for 14 days, should be submitted.

Specimen Retention Time

14 days

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.

Report Available

3 to 5 days