Sign in →

Test ID REVE0 Erythrocytosis Summary Interpretation

Secondary ID

608094

Useful For

Incorporating and summarizing subsequent results into an overall evaluation if 1 or more molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood

Testing Algorithm

This test is an additional consultative interpretation that summarizes all testing, as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the REVE2 / Erythrocytosis Evaluation, Blood:

-ATHAL / Alpha-Globin Gene Analysis, Varies

-WASQR / Alpha Globin Gene Sequencing, Blood

-WBSQR / Beta-Globin Gene Sequencing, Blood

-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood

-WGSQR / Gamma-Globin Full Gene Sequencing, Varies

-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood

-BPGMM / 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

 

This summary interpretation is in addition to interpretations of individual components, including the erythrocytosis evaluation, hereditary erythrocytosis mutations, and von Hippel-Lindau tests.

Method Name

Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.

 

Medical Interpretation

Reporting Name

Erythrocytosis Summary Interp

Specimen Type

Whole Blood EDTA

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated

Clinical Information

The etiology of congenital (inherited) erythrocytosis can be due to one of several abnormalities. This includes high oxygen affinity hemoglobin variants, genetic variants in the erythropoietin receptor gene, genetic variants in the genes involved in the oxygen-sensing pathway (PHD2/EGLN1, HIF2A/EPAS1, VHL) or BPGM variants causing 2,3-BPG (2,3-bisphosphoglycerate) deficiency. To determine the underlying abnormality frequently requires molecular testing. A summary interpretation that incorporates all of the testing performed is beneficial to the ordering clinician.

Reference Values

Only orderable as a reflex. For more information see REVE2 / Erythrocytosis Evaluation, Blood.

 

An interpretive report will be provided.

Cautions

No significant cautionary statements

Day(s) Performed

Monday through Friday

Report Available

3 to 25 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

Not Applicable

NY State Approved

Yes