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HelpMayo Test ID REVE0 Erythrocytosis Summary Interpretation
Useful For
Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood
Testing Algorithm
When 1 or more molecular tests are added to the REVE2 / Erythrocytosis Evaluation, Blood, then this test is also added as consultative interpretation that summarizes the testing performed as well as any pertinent clinical information. This summary is in addition to interpretations that may be provided for each component. This will be provided after additional testing is complete in order to incorporate subsequent results into an overall evaluation.
Method Name
Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.
Medical Interpretation
Reporting Name
Erythrocytosis Summary InterpSpecimen Type
Whole Blood EDTASpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | ||
Clinical Information
The etiology of congenital (inherited) erythrocytosis can be due to one of several abnormalities. This includes high oxygen affinity hemoglobin variants, genetic variants in the erythropoietin receptor gene, genetic variants in the genes involved in the oxygen-sensing pathway (PHD2/EGLN1, HIF2A/EPAS1, VHL) or BPGM variants causing 2,3-BPG (2,3-bisphosphoglycerate) deficiency. To determine the underlying abnormality frequently requires molecular testing. A summary interpretation that incorporates all testing performed is beneficial to the ordering clinician.
Reference Values
Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.
An interpretive report will be provided.
Interpretation
An interpretive report will be provided that summarizes all testing as well as any pertinent clinical information.
Cautions
No significant cautionary statements
Clinical Reference
1. Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009;23(5):834-844
2. Percy MJ, Lee FS. Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008;93(7):963-967
3. Maran J, Prchal J. Polycythemia and oxygen sensing. Pathol Biol (Paris). 2004;52(5):280-284
4. Merchant SH, Oliveira JL, Hoyer JD, Viswanatha DS. Erythrocytosis. In: His ED, ed. Hematopathology. 2nd ed. Elsevier Saunders; 2012:722-723
5. Harteveld CL, Higgs DR. Alpha-thalassemia. Orphanet J Rare Dis. 2010;5:13
6. Thein SL. The molecular basis of beta-thalassemia. Cold Spring Harb Persepct Med. 2013 1;3(5):a011700
7. Crowley MA, Mollan TL, Abdulmalik OY, et al. A hemoglobin variant associated with neonatal cyanosis and anemia. N Engl J Med. 2011;364(19):1837-1843
8. Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011;13(5):549-557. doi:10.1016/j.jmoldx.2011.04.001
9. Hein MS, Oliveira JL, Swanson KC, et al. Large deletions involving the beta globin gene complex: genotype-phenotype correlation of 119 cases. Blood. 2015;126:3374
Method Description
A hematopathologist evaluates all results from the testing performed, and a summary interpretation is provided.
Specimen Retention Time
28 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
Not ApplicableLOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| REVE0 | Erythrocytosis Summary Interp | 59465-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608094 | Erythrocytosis Summary Interp | 59465-5 |
| 608116 | Reviewed By | 18771-6 |
Day(s) Performed
Monday through Friday