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Test Code REVE Erythrocytosis Evaluation, Whole Blood

Useful For

Definitive, comprehensive, and economical 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
REV Erythrocytosis Interpretation No Yes
A2F Hemoglobin A2 and F No Yes
HBEL Hemoglobin Electrophoresis, B No Yes
P50P Oxygen Dissociation P50 No Yes
CTRL P50 Shipping Control Vial No Yes
MASS Hb Variant by Mass Spec, B No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
SDEX Hemoglobin S, Scrn, B Yes No
HEMP Hereditary Erythrocytosis Mut, B Yes No
IEF IEF Confirms No No
UNHB Unstable Hemoglobin, B No No
HPFH Hemoglobin F, Red Cell Distrib, 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, (Order WBDD) No
WGSQR Gamma Globin Full Gene Sequencing Yes, (Order WGSEQ) No
BPGMM BPGM Full Gene Sequencing Yes No
REVB Erythrocytosis Summary Interp No No
VHLE VHL Gene Erythrocytosis Mutations Yes, (Order VHLZ) No

Testing Algorithm

This is a consultative evaluation in which the case will be evaluated at Mayo Clinic Laboratories, the appropriate tests 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 p50 (if shipping control is received) and hemoglobin variants (cation exchange HPLC, 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. See Erythrocytosis Evaluation Testing Algorithm in Special Instructions. An information sheet relaying clinical history, erythropoietin (EPO) levels, and JAK2 result s, if known, allows more complete interpretation.

 

An additional consultative interpretation that summarizes all testing, will be provided after test completion to incorporate subsequent results into an overall evaluation if any of the following molecular tests are reflexed:

-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

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

-HEMP / Hereditary Erythrocytosis Mutations, Whole Blood

-VHLE / VHL Gene, Erythrocytosis Mutation Analysis

 

The following algorithms are available in Special Instructions:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

 

See Benign Hematology Evaluation Comparison in Special Instructions.

Method Name

REV: Consultative Interpretation

A2F: Cation Exchange/High-Performance Liquid Chromatography (HPLC)

HBEL: Capillary Electrophoresis

P50P: Hemox-Analyzer Measures and Plots O(2) Saturation

IEF: Electrophoresis

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

REVB: Consultative Interpretation

Reporting Name

Erythrocytosis Evaluation

Specimen Type

Control
WB Sodium Heparin
Whole Blood EDTA


Advisory Information


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



Shipping Instructions


All 3 specimens must arrive within 72 hours of collection.



Necessary Information


Include recent transfusion information.

 

Include most recent CBC results.



Specimen Required


A total of 3 specimens are required to perform this profile; all 3 specimens must arrive within 72 hours of collection:

-Whole blood EDTA for A2F, HBEL, MASS

-Whole blood sodium heparin for P50*

-Normal shipping control: whole blood sodium heparin for P50*

*Please note: If sodium heparin patient and control specimens are not received, the P50 test cannot be performed.

 

Patient:

Container/Tube: Lavender top (EDTA) and green top (sodium heparin)

Specimen Volume:

EDTA: 5 mL

Sodium heparin: 4 mL

Collection Instructions:

1. Immediately refrigerate specimens after collection.

2. Send specimen in original tube. Do not aliquot.

3. Rubber band patient specimen and control vial together.

 

Normal Shipping Control:

Container/Tube: Green top (sodium heparin)

Specimen Volume: 4 mL

Collection Instructions:

1. Collect a control specimen from a normal (healthy), unrelated, nonsmoking person at the same time as the patient.

2. Label clearly on outermost label normal control.

3. Immediately refrigerate specimen after collection.

4. Send specimen in original tube. Do not aliquot.

5. Rubber band patient specimen and control vial together.


Specimen Minimum Volume

EDTA blood: 2.5 mL
Sodium heparin blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Control Refrigerated 72 hours GREEN TOP/HEP
WB Sodium Heparin Refrigerated 72 hours GREEN TOP/HEP
Whole Blood EDTA Refrigerated 72 hours

Reference Values

Definitive results and an interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Saturday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

Erythrocytosis Evaluation

82820-Hemoglobin O2 affinity (p50)

83020-Hemoglobin electrophoresis

83021-Hemoglobin A2 and F

83789-Hemoglobin Variant by Mass Spectroscopy (MS), Blood

 

Hemoglobin, Unstable, Blood

83068 (if appropriate)

 

IEF confirms

82664 (if appropriate)

 

Hemoglobin F, Red Cell Distribution, Blood

88184 (if appropriate)

 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
REVE Erythrocytosis Evaluation In Process

 

Result ID Test Result Name Result LOINC Value
2380 Hemoglobin A 20572-4
60286 Hb Variant by Mass Spec, B No LOINC Needed
2381 Hemoglobin A2 42245-1
174 Erythrocytosis Interpretation 59466-3
37951 P50 Shipping Control Vial No LOINC Needed
37950 Oxygen Dissociation P50, RBC 65343-6
37948 Reviewed By 59465-5
2382 Hemoglobin F 42246-9
2383 Variant 32017-6
29224 Variant 2 32017-6
29225 Variant 3 32017-6
2101 Interpretation 78748-1

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.

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. Metabolic Hematology Patient Information (T810) is available in Special Instructions.