Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
Use
The EPOR gene test is useful for assessing the erythropoietin receptor in individuals with JAK2-negative erythrocytosis, which is associated with a lifelong increase in red blood cell mass, elevated RBC count, hemoglobin, or hematocrit. It is especially relevant when considering hereditary erythrocytosis, which differs from polycythemia vera due to the absence of clonal evolution risk.
Special Instructions
This test is orderable only as part of a profile, specifically the HEMP / Hereditary Erythrocytosis Mutations panel. It is a third-order test recommended for patients diagnosed with lifelong and sustained erythrocytosis, who have negative JAK2 V617F and decreased to normal serum erythropoietin levels.
Limitations
The test will not detect somatic or gonadal mosaicism. Certain sequence alterations might have no clinical manifestations, making them benign. Clinical correlation with patient information is necessary for meaningful results. It should be noted that polycythemia vera and acquired causes of erythrocytosis should be excluded before this evaluation is ordered.
New York Approved
Methodology
Sanger
Biomarkers
LOINC Codes
- 82939-0
Result Turnaround Time
10-25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis, gross lipemia, gross icterus, moderately to severely clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |