Protoporphyrins, Fractionation, Washed Erythrocytes
Use
Preferred test for analysis of erythrocyte protoporphyrin fractions and evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria. It is used for establishing a biochemical diagnosis of these conditions, which are genetic disorders affecting heme biosynthesis and leading to abnormal protoporphyrin accumulation. These conditions manifest clinically through symptoms like photosensitivity, skin changes, and are influenced by environmental factors. Testing protoporphyrin fractions is particularly informative in patients where there is a clinical suspicion of these specific porphyrias.
Special Instructions
Patients must abstain from alcohol for at least 24 hours prior to specimen collection to avoid false-positive results due to suppressed enzyme activity.
Limitations
This test should not be ordered concurrently with the PEWE / Porphyrins Evaluation, Washed Erythrocytes. Inappropriate specimen collection and handling, or inappropriate test selection, could potentially lead to diagnostic confusion. Alcohol can suppress enzyme activity and might lead to false-positive results.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 94490-0
- 2895-1
- 94491-8
- 59462-2
- 94496-7
- 94497-5
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Entire washed erythrocyte suspension
Minimum Volume
1 mL of washed and resuspended erythrocytes
Container
Plastic vial
Collection Instructions
Collect and process whole blood specimen. Transfer entire specimen to a 12-mL graduated centrifuge tube. Centrifuge at 4°C for 10 minutes at 2000 rpm. Record volume of packed cells and total volume. Discard supernatant plasma. Wash packed erythrocytes twice with cold 0.9% saline, centrifuge, and discard supernatant. Resuspend packed cells to original total volume with 0.9% saline. Invert to mix and freeze.
Patient Preparation
Patient must not consume any alcohol for 24 hours before specimen collection.
Storage Instructions
Freeze
Causes for Rejection
Cell suspension not available
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | 14 days |