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

Test Catalog

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

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

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.

Method Name A short description of the method used to perform the test

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.

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

PHD2 Gene, Mutation Analysis, B

Aliases Lists additional common names for a test, as an aid in searching

EGLN1
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