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Test Code REVEI Erythrocytosis Interpretation

Useful For

Interpretation of the Erythrocytosis Evaluation profile test

 

Definitive, comprehensive, and economical evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

Method Name

Only orderable as part of a profile. For more information see REVE2 / Erythrocytosis Evaluation, Blood.

 

Medical Interpretation

Reporting Name

Erythrocytosis Interpretation

Specimen Type

Whole Blood EDTA

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated 7 days

Reference Values

Only orderable as part of a profile. For more information see REVE2 / Erythrocytosis Evaluation, Blood.

 

Definitive results and an interpretative report will be provided.

Interpretation

The evaluation includes testing for hemoglobinopathy. Reflex testing for EPOR, EGLN1 (PHD2), EPAS1 (HIF2a), VHL, and BPGM will be performed as needed.

Clinical Reference

1. Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009;23(5):834-844

2. McMullin MF. The classification and diagnosis of erythrocytosis. Int J Lab Hematol. 2008;30(6):447-459

3. Percy MJ, Lee FS. Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008;93(7):963-967

4. Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. Br J Haematol. 2010;148(6):844-852

5. Maran J, Prchal J. Polycythemia and oxygen sensing. Pathol Biol (Paris). 2004;52(5):280-284

6. Lee F. Genetic causes of erythrocytosis and the oxygen-sensing pathway. Blood Rev. 2008;22(6):321-332

7. Merchant SH, Oliveira JL, Hoyer JD, Viswanatha DS. Erythrocytosis. In: His ED, ed. Hematopathology. 2nd ed. Elsevier Saunders; 2012:722-723

8. Zhuang Z, Yang C, Lorenzo F, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012;367(10):922-930

9. Oliveira JL, Coon LM, Frederick LA, et al. Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience. Am J Hematol. 2018. doi:10.1002/ajh.25150

10. Gangat N, Oliveira JL, Hoyer JD, Patnaik MM, Pardanani A, Tefferi A. High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases. Am J Hematol. 2021;96(12):1647-1654. doi:10.1002/ajh.26375

11. Gangat N, Oliveira JL, Porter TR, et al. Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: the Mayo Clinic experience. Haematologica. 2022;107(5):1201-1204. doi:10.3324/haematol.2021.280516

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

Not Applicable

CPT Code Information

83020-26

LOINC Code Information

Test ID Test Order Name Order LOINC Value
REVEI Erythrocytosis Interpretation 59466-3

 

Result ID Test Result Name Result LOINC Value
608426 Erythrocytosis Interpretation 59466-3
608440 Reviewed By 18771-6

Day(s) Performed

Monday through Friday

Report Available

3 to 25 days if structural or molecular studies are required.