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Email: | mcl@mayo.edu |
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Values are valid only on day of printing. |
Definitive, comprehensive, and economical evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit
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 |
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 |
BPGMM | BPGM Full Gene Sequencing | Yes | No |
REVB | Erythrocytosis Summary Interp | No | No |
VHLE | VHL Gene Erythrocytosis Mutations | Yes, (Order VHLZ) | No |
WGSQR | Gamma Globin Full Gene Sequencing | No | No |
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.
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