Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
Use
This test is useful for assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit. Erythrocytosis may be primary or secondary, the latter in response to increased serum erythropoietin levels. When common causes of secondary erythrocytosis are excluded, a heritable cause may be suspected. The genes involved in the oxygen-sensing pathway, including PHD2/EGLN1, play a role in hereditary erythrocytosis, which, unlike polycythemia vera, is not associated with clonal evolution and should present with isolated erythrocytosis present since birth.
Special Instructions
Not provided.
Limitations
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation. This test will not detect somatic or gonadal mosaicism. Certain sequence alterations have no clinical manifestations and are clinically benign. Correlation with all relevant clinical information is necessary for appropriate patient care. The test does not assay the hemoglobin genes, HBA1/HBA2 and HBB, which are also associated with hereditary erythrocytosis.
New York Approved
Methodology
PCR-based (Sanger)
Biomarkers
PHD2, EGLN1
Gene
LOINC Codes
- 82939-0 - Genetic variant details Bld/T
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 |