Home
HelpOrder Code HEMP Hereditary Erythrocytosis Mutations, Whole Blood
Reporting Name
Hereditary Erythrocytosis Mut, BUseful For
Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
This test is not intended for prenatal diagnosis.
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MINT | Molecular Interpretation | No | Yes |
| EPOR | EPOR Gene, Mutation Analysis, B | No | Yes |
| HIF2A | HIF2A Gene, Mutation Analysis, B | No | Yes |
| PHD2 | PHD2 Gene, Mutation Analysis, B | No | Yes |
Testing Algorithm
This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. Polycythemia vera should be excluded prior to testing as it is much more common than hereditary erythrocytosis and can be present even in young patients. A JAK2 V617F or JAK2 exon 12 variant should not be present. Additionally, testing to exclude the possibility of a high oxygen affinity hemoglobin variant should be performed before ordering this test. See Ordering Guidance.
Additional testing for BPGM full gene sequencing and VHL gene erythrocytosis variant analysis will always be performed at an additional charge.
For more information see Erythrocytosis Evaluation Testing Algorithm
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodOrdering Guidance
For a complete evaluation including hemoglobin electrophoresis testing and hereditary erythrocytosis variant analysis in an algorithmic fashion, order REVE2 / Erythrocytosis Evaluation, Blood.
This test does not provide a serum erythropoietin (EPO) level. If EPO testing is desired, order EPO / Erythropoietin, Serum.
Necessary Information
Erythrocytosis Patient Information (T694) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.
Specimen Required
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 |
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
CPT Code Information
81479
Genetics Test Information
This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of erythrocytosis and JAK2 V617F is negative.
Method Description
DNA is extracted from whole blood and amplified in 7 separate polymerase chain reaction (PCR) 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;100:407-410. doi: 10.1046/j.1365-2141.1998.00550.x; 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. doi: 10.3324/haematol.13210; 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. doi: 10.1073/pnas.0508423103; 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)
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | Reject |
| Moderately to severely clotted | Reject |
Method Name
Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Erythrocytosis Patient Information (T694)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BPGMM | BPGM Full Gene Sequencing | Yes | Yes |
| VHLE | VHL Gene Erythrocytosis Mutations | No, (Order VHLZZ) | Yes |