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HelpTest Code Epic LAB873 Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
Additional Codes
SQ code EPOIM
Mayo code EPO
Reporting Name
EPOR Gene, Mutation Analysis, BErythropoietin (EPO), S
Specimen Type
Whole bloodPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
Additional Testing Requirements
Specimen Required
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 30 days | |
| Ambient | 14 days |
Reference Values
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
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
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EPOR | EPOR Gene, Mutation Analysis, B | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 34645 | EPOR Gene Sequencing Result | 82939-0 |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | Reject |
| Moderately to severely clotted | Reject |
Method Name
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
Polymerase Chain Reaction (PCR)/Sanger Sequencing
Genetics Test Information
This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of lifelong and sustained erythrocytosis, JAK2 V617F is negative and serum erythropoietin levels are decreased to normal.
Method Description
DNA is extracted from whole blood and amplified in 7 separate polymerase chain reaction (PCR) reactions to cover EPOR exon 8, HIF2A exons 9 and 12, and PHD2 exons 1 through 5. PCR products are then sequenced by the Sanger sequencing method and analyzed with sequencing software. Patient sequence results are compared with the genomic reference sequences and the single nucleotide variants known to occur in the genes. If a variant is detected, the messenger RNA reference sequence will be used to determine the amino acid number and resulting amino acid change, if there is one.(Percy MJ, McMullin MF, Roques AW, et al: Erythrocytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol. 1998 Feb;100(2):407-410; Martini M, Teofili L, Cenci T, et al: A novel heterozygous HIF2a[M535I] mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. Haematologica. 2008;93[7]:1068-1071; Percy MJ, Zhao Q, Flores A, et al: A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. PNAS. 2006;103[3]:654-659; Oliveira JL, Coon LM, Frederick LA, et al: Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience. Am J Hematol. 2018 May 23. doi: 10.1002/ajh.25150)