Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Casandra

Casandra Test Code MC66592Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PHD2CPT Code 81479

Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Clinical Use

Use

This test is useful for assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit. Erythrocytosis may be primary or secondary, the latter in response to increased serum erythropoietin levels. When common causes of secondary erythrocytosis are excluded, a heritable cause may be suspected. The genes involved in the oxygen-sensing pathway, including PHD2/EGLN1, play a role in hereditary erythrocytosis, which, unlike polycythemia vera, is not associated with clonal evolution and should present with isolated erythrocytosis present since birth.

Special Instructions

This test is only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.

Limitations

Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation. This test will not detect somatic or gonadal mosaicism. Certain sequence alterations have no clinical manifestations and are clinically benign. Correlation with all relevant clinical information is necessary for appropriate patient care. The test does not assay the hemoglobin genes, HBA1/HBA2 and HBB, which are also associated with hereditary erythrocytosis.

Test Details

New York Approved