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HelpTest Code HEMP Hereditary Erythrocytosis Mutations, Whole Blood
Reporting Name
Hereditary Erythrocytosis Mut, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful 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.
Method Name
Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis
Ordering 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 Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 30 days | |
| Ambient | 14 days |
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | Reject |
| Moderately to severely clotted | Reject |
Reference Values
An interpretive report will be provided.
Interpretation
An interpretive report will be provided and will include specimen information, assay information, and whether the specimen was positive for any variants in the gene. If positive, the variant will be correlated with clinical significance, if known.
Day(s) Performed
Monday through Friday
Report Available
10 to 25 daysTest 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 |
|---|---|---|
| HEMP | Hereditary Erythrocytosis Mut, B | 105351-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 34645 | EPOR Gene Sequencing Result | 82939-0 |
| 34646 | PHD2 Gene Sequencing Result | 82939-0 |
| 34647 | HIF2A Gene Sequencing Result | 82939-0 |
| 34648 | Molecular Interpretation | 69047-9 |
| 35000 | Reviewed By | 18771-6 |
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.
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
Special Instructions
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 |