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HelpTest Code PHD2 Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
Reporting Name
PHD2 Gene, Mutation Analysis, BUseful 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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodAdditional Testing Requirements
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 | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 30 days | |
| Ambient | 14 days |
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.
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.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 |
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
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | Reject |
| Moderately to severely clotted | Reject |
Day(s) Performed
Monday through Friday