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Test ID EPOR Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Useful For

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

Genetics Test Information

This test is a third-order test and should be ordered when the patient meets the following criteria: diagnosis of lifelong and sustained erythrocytosis, JAK2 V617F is negative, serum erythropoietin levels are decreased to normal, and p50 values are normal.

Method Name

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

 

Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

Reporting Name

EPOR Gene, Mutation Analysis, B

Specimen Type

Whole blood


Additional Testing Requirements


 



Specimen Required


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


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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81479-Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EPOR EPOR Gene, Mutation Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
34645 EPOR 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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

NY State Approved

Yes