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

Reporting Name

PHD2 Gene, Mutation Analysis, B

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

Method Name

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

 

Polymerase Chain Reaction (PCR)/Sanger Sequencing

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Specimen Required


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

 

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 30 days
  Ambient  14 days

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus Reject
Moderately to severely clotted Reject

Reference Values

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

 

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

CPT Code Information

81479

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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Report Available

10 to 25 days