Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing
The definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
This is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of erythrocytosis, serum erythropoietin levels are 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 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. Serum Epo levels are typically normal (inappropriately so for the level of hemoglobin). For a complete evaluation including p50 testing, hemoglobin electrophoresis testing, and hereditary erythrocytosis mutation analysis in an algorithmic fashion, order REVP / Erythrocytosis Evaluation.
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations.
Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
PHD2 Gene, Mutation Analysis, B