Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: HEMP
Hereditary Erythrocytosis Mutations, Whole Blood
Useful For 
Suggests clinical disorders or settings where the test may be helpful
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.
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of erythrocytosis, JAK2 V617F is negative, and p50 values are normal.
Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.
| 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 |
Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BPGMM | BPGM Full Gene Sequencing | Yes | Yes |
| VHLE | VHL Gene Erythrocytosis Mutations | No, (Order VHLZ) | Yes |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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, p50 testing should be performed and a normal result confirmed before ordering this test.
Additional testing for BPGM full gene sequencing and VHL gene erythrocytosis variant analysis will always be performed at an additional charge.
See Erythrocytosis Evaluation Testing Algorithm in Special Instructions.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
HIF
PHD
EPAS1
EPOR
Erythrocytosis
Polycythemia