Erythrocytosis Evaluation, Blood
Use
This test is useful for the definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit. It provides insight into hereditary (congenital) causes of erythrocytosis, which may be long-standing or familial. The evaluation includes testing for hemoglobin variants and reflex testing for specific gene mutations related to erythrocytosis.
Special Instructions
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation. It is strongly recommended to send metabolic hematology patient information, including clinical and family history, CBC results, EPO levels, and JAK2 testing results, if known. Informed consent is required for New York clients.
Limitations
This test may not be applicable for individuals with isolated increases in red blood cell count without an increase in hemoglobin levels, as seen in cases of thalassemia or other non-erythrocytosis conditions. Reflex testing is offered only when hemoglobin testing is inconclusive, and the presence of high-oxygen-affinity hemoglobin variants makes electrophoretic detection challenging.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 43113-0
- 20572-4
- 32682-7
- 4552-6
- 24469-9
- 78748-1
- 59466-3
- 18771-6
Result Turnaround Time
3-25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2.5 mL
Container
Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |