Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood
Use
This test is used for assessing the HIF2A/EPAS1 gene in the evaluation of an individual with JAK2-negative erythrocytosis. This condition is characterized by lifelong sustained increased red blood cell mass, elevated RBC count, hemoglobin, or hematocrit. Hereditary erythrocytosis is caused by variants in several genes and may present with isolated erythrocytosis without risk of clonal evolution.
Special Instructions
This test is only orderable as part of a profile. Refer to the HEMP / Hereditary Erythrocytosis Mutations, Whole Blood for more information.
Limitations
The test will not detect somatic or gonadal mosaicism. It is essential to exclude polycythemia vera and acquired causes of erythrocytosis before ordering this evaluation. Certain sequence alterations have no clinical manifestations and are clinically benign, hence correlation with all relevant clinical information is necessary.
New York Approved
Methodology
PCR-based (Sanger)
Biomarkers
LOINC Codes
- 103953-6
- 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 |