Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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.
Polycythemia vera and acquired causes of erythrocytosis should be excluded before ordering this evaluation.
All 3 specimens must arrive within 72 hours of collection.
Include recent transfusion information.
Include most recent CBC results.
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.
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.
Gross hemolysis | Reject |
Specimen Type | Temperature | Time | Special Container |
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Control | Refrigerated | 72 hours | GREEN TOP/HEP |
WB Sodium Heparin | Refrigerated | 72 hours | GREEN TOP/HEP |
Whole Blood EDTA | Refrigerated | 72 hours |