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Test ID REVE2 Erythrocytosis Evaluation, Blood


Ordering Guidance


Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation.



Necessary Information


Send the following information with the specimen:

-Recent transfusion information

-Most recent complete blood cell count (CBC) results and serum erythropoietin (EPO) levels, if known

 

Metabolic Hematology Patient Information (T810) is strongly recommended and should include clinical and family history, CBC results, EPO levels, and JAK2 testing results, if known. Testing may proceed without this information; however, it allows for a more complete interpretation.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD solution B), green top (sodium heparin)

Specimen Volume: 5 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Metabolic Hematology Patient Information (T810)

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

Useful For

Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

Profile Information

Test ID Reporting Name Available Separately Always Performed
REVEI Erythrocytosis Interpretation No Yes
HGBCE Hb Variant, A2 and F Quantitation,B Yes Yes
HPLC HPLC Hb Variant, B No Yes
MASS Hb Variant by Mass Spec, B No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
SDEX Sickle Solubility, B Yes No
HEMP Hereditary Erythrocytosis Mut, B Yes No
IEF Isoelectric Focusing, B No No
UNHB Hb Stability, B No No
HPFH Hb F Distribution, B No No
ATHAL Alpha-Globin Gene Analysis Yes No
WASQR Alpha Globin Gene Sequencing, B Yes, (Order WASEQ) No
WBSQR Beta Globin Gene Sequencing, B Yes, (Order WBSEQ) No
WBDDR Beta Globin Cluster Locus Del/Dup,B Yes, (WBDD) No
WGSQR Gamma Globin Full Gene Sequencing Yes, (Order WGSEQ) No
BPGMM BPGM Full Gene Sequencing Yes No
REVE0 Erythrocytosis Summary Interp No No
VHLE VHL Gene Erythrocytosis Mutations Yes, (Order VHLZZ) No

Testing Algorithm

This is a consultative evaluation in which the case will be evaluated at Mayo Clinic Laboratories, the appropriate tests will be performed at an additional charge, and the results interpreted.

 

This profile evaluates for hereditary (congenital) causes of erythrocytosis. Symptoms should be long-standing or familial in nature. All cases will be tested for hemoglobin variants (cation exchange high performance liquid chromatography, capillary electrophoresis, and mass spectrometry) with an interpretative report. Additional testing is guided in a reflexive manner and may include molecular testing of the HBA1/HBA2, HBB, EPOR, VHL, EGLN1(PHD2), EPAS1(HIF2a), and BPGM genes, among others, as appropriate. For more information see Erythrocytosis Evaluation Testing Algorithm.

 

If any of the following molecular tests are performed, an additional consultative interpretation that summarizes all testing will be provided to incorporate subsequent results into an overall evaluation:

-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

 

Additional reflex tests are performed if the hemoglobin testing does not explain the patient's phenotype/hereditary erythrocytosis. Each of the following reflex tests contains an individual interpretative report.

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

-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood

-VHLE / VHL Gene, Erythrocytosis, Mutation Analysis, Varies

 

For more information, see:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

-Benign Hematology Evaluation Comparison

Method Name

REVEI, REVE0: Medical Interpretation

HGBCE: Capillary Electrophoresis

HPLC: Cation Exchange/High Performance Liquid Chromatography (HPLC)

MASS: Mass Spectrometry (MS)

SDEX: Hemoglobin S Solubility

HEMP: Polymerase Chain Reaction (PCR) Amplification/Sanger Sequence Analysis

IEF: Isoelectric Focusing

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

ATHAL, WBDDR: Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)

WASQR, WBSQR, WGSQR, BPGMM: Polymerase Chain Reaction (PCR)/Sanger Sequencing

VHLE: Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

Erythrocytosis Evaluation

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

2.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated 7 days

Reference Values

Definitive results and an interpretive report will be provided.

Day(s) Performed

Monday through Saturday

Report Available

3 to 25 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

83020-26

83020

83021

83789

83068 (if appropriate)

82664 (if appropriate)

88184 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
REVE2 Erythrocytosis Evaluation 43113-0

 

Result ID Test Result Name Result LOINC Value
60286 Hb Variant by Mass Spec, B No LOINC Needed
41927 Hb A 20572-4
65615 HPLC Hb Variant, B No LOINC Needed
608426 Erythrocytosis Interpretation 59466-3
608440 Reviewed By 18771-6
41928 Hb F 32682-7
41929 Hb A2 4552-6
41930 Variant 1 24469-9
41931 Variant 2 24469-9
41932 Variant 3 24469-9
41933 HGBCE Interpretation 78748-1

NY State Approved

Yes