EPOR - Clinical: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing

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

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct 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 lifelong and sustained erythrocytosis, JAK2 V617F is negative, serum erythropoietin levels are decreased to normal, and p50 values are normal.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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).

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

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

Interpretation Provides information to assist in interpretation of the test results

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

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

 


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