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HelpTest Code REVE2 Erythrocytosis Evaluation, Blood
Ordering Guidance
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation.
Necessary Information
Send the following information with the specimen:
-Recent transfusion information
-Most recent complete blood cell count (CBC) results and serum erythropoietin (EPO) levels, if known
Metabolic Hematology Patient Information (T810) is strongly recommended and should include clinical and family history, CBC results, EPO levels, and JAK2 testing results, if known. Testing may proceed without this information; however, it allows for a more complete interpretation.
Specimen Required
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD solution B), green top (sodium heparin)
Specimen Volume: 5 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Metabolic Hematology Patient Information (T810)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
Useful For
Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| REVEI | Erythrocytosis Interpretation | No | Yes |
| HGBCE | Hb Variant, A2 and F Quantitation,B | Yes | Yes |
| HPLC | HPLC Hb Variant, B | No | Yes |
| MASS | Hb Variant by Mass Spec, B | No | Yes |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SDEX | Sickle Solubility, B | Yes | No |
| HEMP | Hereditary Erythrocytosis Mut, B | Yes | No |
| IEF | Isoelectric Focusing, B | No | No |
| UNHB | Hb Stability, B | No | No |
| HPFH | Hb F Distribution, B | No | No |
| ATHAL | Alpha-Globin Gene Analysis | Yes | No |
| WASQR | Alpha Globin Gene Sequencing, B | Yes, (Order WASEQ) | No |
| WBSQR | Beta Globin Gene Sequencing, B | Yes, (Order WBSEQ) | No |
| WBDDR | Beta Globin Cluster Locus Del/Dup,B | Yes, (WBDD) | No |
| WGSQR | Gamma Globin Full Gene Sequencing | Yes, (Order WGSEQ) | No |
| BPGMM | BPGM Full Gene Sequencing | Yes | No |
| REVE0 | Erythrocytosis Summary Interp | No | No |
| VHLE | VHL Gene Erythrocytosis Mutations | Yes, (Order VHLZZ) | No |
Testing Algorithm
This is a consultative evaluation in which the case will be evaluated at Mayo Clinic Laboratories, the appropriate tests will be performed at an additional charge, and the results interpreted.
This profile evaluates for hereditary (congenital) causes of erythrocytosis. Symptoms should be long-standing or familial in nature. All cases will be tested for hemoglobin variants (cation exchange high performance liquid chromatography, capillary electrophoresis, and mass spectrometry) with an interpretative report. Additional testing is guided in a reflexive manner and may include molecular testing of the HBA1/HBA2, HBB, EPOR, VHL, EGLN1(PHD2), EPAS1(HIF2a), and BPGM genes, among others, as appropriate. For more information see Erythrocytosis Evaluation Testing Algorithm.
If any of the following molecular tests are performed, an additional consultative interpretation that summarizes all testing will be provided to incorporate subsequent results into an overall evaluation:
-ATHAL / Alpha-Globin Gene Analysis, Varies
-WASQR / Alpha -Globin Gene Sequencing, Blood
-WBSQR / Beta-Globin Gene Sequencing, Blood
-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood
-WGSQR / Gamma-Globin Full Gene Sequencing, Varies
Additional reflex tests are performed if the hemoglobin testing does not explain the patient's phenotype/hereditary erythrocytosis. Each of the following reflex tests contains an individual interpretative report.
-BPGMM / 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood
-VHLE / VHL Gene, Erythrocytosis, Mutation Analysis, Varies
For more information, see:
-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation
Special Instructions
- Informed Consent for Genetic Testing
- Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation
- Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation
- Erythrocytosis Evaluation Testing Algorithm
- Metabolic Hematology Patient Information
- Benign Hematology Evaluation Comparison
- Informed Consent for Genetic Testing (Spanish)
Method Name
REVEI, REVE0: Medical Interpretation
HGBCE: Capillary Electrophoresis
HPLC: Cation Exchange/High Performance Liquid Chromatography (HPLC)
MASS: Mass Spectrometry (MS)
SDEX: Hemoglobin S Solubility
HEMP: Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis
IEF: Isoelectric Focusing
HPFH: Flow Cytometry
UNHB: Isopropanol and Heat Stability
ATHAL, WBDDR: Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)
WASQR, WBSQR, WGSQR, BPGMM: Polymerase Chain Reaction (PCR)/Sanger Sequencing
VHLE: Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis
Reporting Name
Erythrocytosis EvaluationSpecimen Type
Whole Blood EDTASpecimen Minimum Volume
2.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | 7 days |
Reference Values
Definitive results and an interpretive report will be provided.
Interpretation
The evaluation includes testing for a hemoglobinopathy. Reflex testing for EPOR, EGLN1 (PHD2), EPAS1 (HIF2a), VHL, and BPGM will be performed as needed.
A hematopathology expert in these disorders will evaluate the case, have the appropriate tests performed, and issue an interpretive report.
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. 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
Day(s) Performed
Monday through Saturday
Report Available
3 to 25 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
83020-26
83020
83021
83789
83068 (if appropriate)
82664 (if appropriate)
88184 (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| REVE2 | Erythrocytosis Evaluation | 43113-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 60286 | Hb Variant by Mass Spec, B | No LOINC Needed |
| 41927 | Hb A | 20572-4 |
| 65615 | HPLC Hb Variant, B | No LOINC Needed |
| 608426 | Erythrocytosis Interpretation | 59466-3 |
| 608440 | Reviewed By | 18771-6 |
| 41928 | Hb F | 32682-7 |
| 41929 | Hb A2 | 4552-6 |
| 41930 | Variant 1 | 24469-9 |
| 41931 | Variant 2 | 24469-9 |
| 41932 | Variant 3 | 24469-9 |
| 41933 | HGBCE Interpretation | 78748-1 |