Porphyrins Evaluation, Washed Erythrocytes
Use
This test is primarily used for the analysis of erythrocyte porphyrins and is crucial for establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria. These conditions are related to inherited disorders in the heme biosynthetic pathway and can significantly impact patients with symptoms like cutaneous photosensitivity. This evaluation is also useful for diagnosing iron-deficiency anemia and chronic lead intoxication by screening for elevated total erythrocyte porphyrins.
Special Instructions
Patient must not consume any alcohol for 24 hours before specimen collection. Ensure the volume of packed cells and the total volume of the specimen are recorded and sent with the specimen along with a list of medications the patient is currently taking. If ordering manually, complete and send the Biochemical Genetics Test Request form with the specimen.
Limitations
Consumption of alcohol within 24 hours before specimen collection can suppress enzyme activity and lead to false-positive results. Improper collection and handling of the specimen may result in diagnostic confusion. The test's performance characteristics were determined by Mayo Clinic in accordance with CLIA requirements, but it has not been cleared or approved by the FDA.
New York Approved
Methodology
Other (Spectrofluorometric)
Biomarkers
LOINC Codes
- 2814-2
- 2814-2
- 59462-2
- 94496-7
- 94497-5
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Other
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 degrees C for 10 min at 2000 rpm, discard supernatant plasma, wash packed erythrocytes twice with cold 0.9% saline, resuspend to original volume with saline, and freeze.
Patient Preparation
Patient must not consume any alcohol for 24 hours before specimen collection.
Causes for Rejection
Cell suspension not available
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | 14 days |