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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 |
Interpretation
An interpretive report will be provided as a part of the HEMP / Hereditary Erythrocytosis Mutations, Whole Blood and will include specimen information, assay information, and whether the specimen was positive for any variants in the gene. If positive, the variant will be correlated with clinical significance, if known.
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
Clinical Reference
1. Patnaik MM, Tefferi A: The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009 May;23(5):834-844. doi: 10.1038/leu.2009.54
2. McMullin MF: The classification and diagnosis of erythrocytosis. Int J Lab Hematol. 2008 Dec;30(6):447-459
3. Percy MJ, Lee FS: Familial erythrocytosis: molecular links to red blood cell control. Haematologica. 2008 Jul;93(7):963-967. doi: 10.3324/haematol.13250
4. Huang LJ, Shen YM, Bulut GB: Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6):844-852
5. Maran J, Prchal J: Polycythemia and oxygen sensing. Pathologie Biologie. 2004 Jun;52(5):280-284
6. Lee F: Genetic causes of erythrocytosis and the oxygen-sensing pathway. Blood Rev. 2008 Nov;22(6):321-332
7. Merchant SH, Oliveira JL, Hoyer JD, Viswanatha DS: Erythrocytosis. In: His ED, ed. Hematopathology. 2nd ed. Elsevier Saunders; 2012:22-723
8. Zhuang Z, Yang C, Lorenzo F, et al: Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med. 2012 Sep 6;367(10):922-930
9. Ladroue C, Carcenac R, Leporrier M, et al: PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med. 2008 Dec 18;359(25):2685-2692
10. Lorenzo FR, Yang C, Ng Tang Fui M, et al: A novel EPAS1/HIF2A germline mutation in congenital polycythemia with paraganglioma. J Mol Med. 2013 Apr;91(4):507-512
11. Tarade D, Robinson CM, Lee JE, Ohh M: HIF-2alpha-pVHL complex reveals broad genotype-phenotype correlations in HIF-2aalpha-driven disease. Nat Commun. 2018 Aug 22;9(1):3359
12. Oliveira JL: Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats. Int J Lab Hematol. 2019 May;41 Suppl 1:89-94. doi: 10.1111/ijlh.13019
Day(s) Performed
Monday through Friday