Test Catalog

Test ID: PHD2    
Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing

Testing Algorithm Delineates situations 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.

Specimen Type Describes the specimen type validated for testing

Whole blood

Additional Testing Requirements

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

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.5 mL

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTime
Whole bloodRefrigerated30 days