Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit
This test is not intended for prenatal diagnosis.
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.
Test ID | Reporting Name | Available Separately | Always Performed |
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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 |
Test ID | Reporting Name | Available Separately | Always Performed |
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BPGMM | BPGM Full Gene Sequencing | Yes | Yes |
VHLE | VHL Gene Erythrocytosis Mutations | No, (Order VHLZ) | Yes |
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.
Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis