Home
HelpTest Code PHD2 Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
PHD2 Gene, Mutation Analysis, BSpecimen 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.
Reject Due To
| Gross hemolysis | Reject |
| Gross lipemia | Reject |
| Gross icterus | Reject |
| Moderately to severely clotted | Reject |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 30 days | |
| Ambient | 14 days |
Specimen Minimum Volume
0.5 mL
Day(s) Performed
Monday through Friday
Specimen Retention Time
Whole blood: 2 weeks; Extracted DNA: 3 monthsReport Available
10 to 25 daysReference Values
Only orderable as part of a profile. For more information see HEMP / Hereditary Erythrocytosis Mutations, Whole Blood.
An interpretive report will be provided.
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
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 |