Incorporating and summarizing subsequent results into an overall evaluation if 1 or more molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood
This test is an additional consultative interpretation that summarizes all testing, as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood:
-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
-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood
-BPGMM / 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
This summary interpretation is in addition to interpretations of individual components, including the erythrocytosis evaluation, hereditary erythrocytosis mutations, and von Hippel-Lindau tests.
Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.
Medical Interpretation
reve0
This test is an additional consultative interpretation that summarizes all testing, as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood:
-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
-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood
-BPGMM / 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
This summary interpretation is in addition to interpretations of individual components, including the erythrocytosis evaluation, hereditary erythrocytosis mutations, and von Hippel-Lindau tests.
Whole Blood EDTA
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood EDTA | Refrigerated |
Incorporating and summarizing subsequent results into an overall evaluation if 1 or more molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood
This test is an additional consultative interpretation that summarizes all testing, as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood:
-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
-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood
-BPGMM / 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
This summary interpretation is in addition to interpretations of individual components, including the erythrocytosis evaluation, hereditary erythrocytosis mutations, and von Hippel-Lindau tests.
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 of the testing performed is beneficial to the ordering clinician.
Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.
An interpretive report will be provided.
An interpretive report will be provided.
No significant cautionary statements
1. Patnaik MM, Tefferi A: The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009 May;23(5):834-844
2. Percy MJ, Lee FS: Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008 Jul;93(7):963-967
3. Maran J, Prchal J: Polycythemia and oxygen sensing. Pathol Biol (Paris). 2004 Jun;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 May;5:13
6. Thein SL: The molecular basis of beta-thalassemia. Cold Spring Harb Persepct Med. 2013 May 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 May 12;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 Sep;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
A hematopathologist evaluates all of the testing performed and a summary interpretive report is added.
Monday through Friday
Not Applicable
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
REVE0 | Erythrocytosis Summary Interp | In Process |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
608094 | Erythrocytosis Summary Interp | 59465-5 |
608116 | Reviewed By | 18771-6 |