Protoporphyrins, Fractionation, Whole Blood
Use
This test is used for evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria. It helps establish a biochemical diagnosis of these disorders, which are characterized by cutaneous photosensitivity. Symptoms include itching, erythema, and burning sensations in sun-exposed areas. Erythropoietic protoporphyria results from diminished ferrochelatase, leading to increased free protoporphyrin levels. X-linked dominant protoporphyria results from variants in the ALAS2 gene, causing increased erythrocyte levels of free and zinc-complexed protoporphyrin.
Special Instructions
Not provided.
Limitations
Improper specimen collection or handling can cause diagnostic confusion. Alcohol consumption suppresses enzyme activity, leading to potential false-positive results. This test is not FDA-approved but is developed in accordance with CLIA requirements. The test is most informative for erythropoietic and X-linked dominant protoporphyrias and may not detect other porphyrias.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Free Protoporphyrin
AnalyteZinc-Complexed Protoporphyrin
Analyte
LOINC Codes
- 94490-0 - Protoporphyrin fract Pnl RBC
- 2895-1 - ZPP RBC-mCnc
- 94491-8 - FEP 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); Acceptable: Dark blue top (metal free heparin), green top (lithium heparin), or lavender top (EDTA)
Collection Instructions
Refrigerate specimen as soon as possible.
Patient Preparation
Patient must not consume any alcohol for 24 hours before specimen collection.
Storage Instructions
Refrigerated
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |