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Test Code HEMP Hereditary Erythrocytosis Mutations, Whole Blood

Reporting Name

Hereditary Erythrocytosis Mut, B

Useful For

Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

 

This test is not intended for prenatal diagnosis.

Profile Information

Test ID Reporting Name Available Separately Always Performed
MINT Molecular Interpretation No Yes
EPOR EPOR Gene, Mutation Analysis, B No Yes
HIF2A HIF2A Gene, Mutation Analysis, B No Yes
PHD2 PHD2 Gene, Mutation Analysis, B No Yes

Testing Algorithm

This evaluation is recommended for patients presenting with lifelong erythrocytosis, usually with a positive family history of similar symptoms. Polycythemia vera should be excluded prior to testing as it is much more common than hereditary erythrocytosis and can be present even in young patients. A JAK2 V617F or JAK2 exon 12 variant should not be present. Additionally, testing to exclude the possibility of a high oxygen affinity hemoglobin variant should be performed before ordering this test. See Ordering Guidance.

 

Additional testing for BPGM full gene sequencing and VHL gene erythrocytosis variant analysis will always be performed at an additional charge.

 

For more information see Erythrocytosis Evaluation Testing Algorithm

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Ordering Guidance


For a complete evaluation including hemoglobin electrophoresis testing and hereditary erythrocytosis variant analysis in an algorithmic fashion, order REVE2 / Erythrocytosis Evaluation, Blood.

 

This test does not provide a serum erythropoietin (EPO) level. If EPO testing is desired, order EPO / Erythropoietin, Serum.



Necessary Information


Erythrocytosis Patient Information (T694) is strongly recommended, but not required, to be filled out and sent with the specimen. This information aids in providing a more thorough interpretation of test results. Ordering providers are strongly encouraged to complete the form and send it with the specimen.



Specimen Required


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

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
HEMP Hereditary Erythrocytosis Mut, B 105351-1

 

Result ID Test Result Name Result LOINC Value
34645 EPOR Gene Sequencing Result 82939-0
34646 PHD2 Gene Sequencing Result 82939-0
34647 HIF2A Gene Sequencing Result 82939-0
34648 Molecular Interpretation 69047-9
35000 Reviewed By 18771-6

Interpretation

An interpretive report will be provided 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.

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. doi: 10.1111/j.1751-553X.2008.01102.x

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. doi: 10.1111/j.1365-2141.2009.08069.x

5. Maran J, Prchal J: Polycythemia and oxygen sensing. Patho Biol. 2004 Jun;52(5):280-284. doi: 10.1016/j.patbio.2004.02.006

6. Lee F: Genetic causes of erythrocytosis and the oxygen-sensing pathway. Blood Rev. 2008 Nov;22(6):321-332. doi: 10.1016/j.blre.2008.04.003

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. doi: 10.1056/NEJMoa1205119

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. doi: 10.1056/NEJMoa0806277

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. doi: 10.1007/s00109-012-0967-z

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;9(1):3359. doi: 10.1038/s41467-018-05554-1

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

Report Available

10 to 25 days

Method Name

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Erythrocytosis Patient Information (T694)

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
BPGMM BPGM Full Gene Sequencing Yes Yes
VHLE VHL Gene Erythrocytosis Mutations No, (Order VHLZZ) Yes

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.