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Test Code MISC2MAYOPHD2 Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing

Reporting Name

PHD2 Gene, Mutation Analysis, B

Useful For

The definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

Testing Algorithm

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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

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


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 Special Container
Whole blood Refrigerated 30 days

Reference Values

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

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PHD2 PHD2 Gene, Mutation Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
34646 PHD2 Gene Sequencing Result 82939-0

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

Secondary ID

61683