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Test ID EPOR Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing

Useful For

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Testing Algorithm

This test does not provide a serum erythropoietin (Epo) level. If Epo testing is desired, see EPO / Erythropoietin (EPO), Serum.

 

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 mutation should not be present. Additionally, p50 testing should be performed and a normal result confirmed before ordering this test. For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis mutation analysis in an algorithmic fashion, order the erythrocytosis evaluation panel (REVP / Erythrocytosis Evaluation).

Method Name

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

 

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

Reporting Name

EPOR Gene, Mutation Analysis, B

Specimen Type

Whole blood

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated 30 days

Clinical Information

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Reference Values

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Cautions

Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology procedure

NY State Approved

Conditional