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HelpHereditary Erythrocytosis Mutations, Whole Blood
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 |
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
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 |
Report Available
10 to 25 daysSpecimen Retention Time
Whole blood: 2 weeks; Extracted DNA: 3 monthsForms
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.