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
Not provided.
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.
Methodology
Other
Biomarkers
No genes
Gene
LOINC Codes
- 43113-0 - Hgb Pnl Bld Elph
- 20572-4 - Hgb A MFr Bld Elph
- 32682-7 - Hgb F MFr Bld Elph
- 4552-6 - Hgb A2 MFr Bld Elph
- 24469-9 - Hgb XXX MFr Bld Elph
- 78748-1 - Hgb Fract Bld CE-Imp
- 59466-3 - Hematologist review
- 18771-6 - Provider signing name
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 |
