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

Reporting Name

EPOR Gene, Mutation Analysis, B

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Assessing EPOR 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

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


Additional 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 Type

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

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus Reject
Moderately to severely clotted Reject

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.

Interpretation

Assessing EPOR 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

Day(s) Performed

Monday through Friday

Report Available

10 to 25 days

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
EPOR EPOR Gene, Mutation Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
34645 EPOR Gene Sequencing Result 82939-0