Porphyrins Evaluation, Whole Blood
Use
The porphyrins evaluation test is pivotal in establishing a biochemical diagnosis for disorders such as erythropoietic protoporphyria (EPP) and X-linked dominant protoporphyria (XLDPP). It is particularly useful for screening and diagnosing individuals suspected to have these conditions, as both involve porphyrin accumulation manifesting as heightened protoporphyrin levels in erythrocytes, plasma, and feces. This test is also applied to evaluate iron-deficiency anemia and chronic lead intoxication, with elevated zinc-complexed protoporphyrin levels often indicative of these conditions. The evaluation aids in differentiating these inherited porphyrias from other causes of elevated porphyrins and facilitates early detection for appropriate patient management.
Special Instructions
Not provided.
Limitations
False positives may occur if alcohol is consumed within 24 hours prior to specimen collection due to enzyme suppression, potentially leading to erroneous results. The protoporphyrin measurements are conducted through spectrofluorometric analysis, and certain conditions such as improper specimen collection or handling might result in diagnostic confusion or inaccurate interpretations. Additionally, the test does not distinguish genetic variants of XLDPP and EPP and may require further genetic testing for comprehensive diagnosis.
Methodology
Spectrofluorometric
Biomarkers
Total Porphyrins
Analyte
LOINC Codes
- 2814-2 - Porphyrins RBC-mCnc
- 2814-2 - Porphyrins RBC-mCnc
- 59462-2 - Clinical biochemist review
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
Green top (sodium heparin), Dark blue top (metal free heparin), Lavender top (EDTA)
Collection Instructions
Immediately place specimen on wet ice.
Patient Preparation
Patient must not consume any alcohol for 24 hours before specimen collection.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
