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HelpTest Code WBSQR Beta-Globin Gene Sequencing, Blood
Reporting Name
Beta Globin Gene Sequencing, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Evaluating for the following in an algorithmic process for the HAEV1 / Hemolytic Anemia Evaluation, Blood; HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood; MEV1 / Methemoglobinemia Evaluation, Blood; REVE2 / Erythrocytosis Evaluation, Blood; THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum:
-Diagnosing of beta thalassemia intermedia or major
-Identifying a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait)
-Evaluating an abnormal hemoglobin electrophoresis identifying a rare beta-globin variant
-Evaluating chronic hemolytic anemia of unknown etiology
-Evaluating hereditary erythrocytosis with left-shifted p50 oxygen dissociation results
-Preconception screening when there is a concern for a beta-hemoglobin disorder based on family history
Method Name
Only orderable as a reflex. For more information see:
-HAEV1 / Hemolytic Anemia Evaluation, Blood
-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
-MEV1 / Methemoglobinemia Evaluation, Blood
-REVE2 / Erythrocytosis Evaluation, Blood
-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Polymerase Chain Reaction (PCR)/Sanger Sequencing
Specimen Required
Only orderable as a reflex. For more information see:
-HAEV1 / Hemolytic Anemia Evaluation, Blood
-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
-MEV1 / Methemoglobinemia Evaluation, Blood
-REVE2 / Erythrocytosis Evaluation, Blood
-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable:Â Yellow top (ACD)
Specimen Volume: 4 mL
Specimen Type
Whole Blood EDTASpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | 14 days |
Reject Due To
| Gross hemolysis | OK |
| Moderately to severely clotted | Reject |
Reference Values
Only orderable as a reflex. For more information see:
-HAEV1 / Hemolytic Anemia Evaluation, Blood
-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
-MEV1 / Methemoglobinemia Evaluation, Blood
-REVE2 / Erythrocytosis Evaluation, Blood
-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
An interpretive report will be provided.
Interpretation
The alteration will be provided with the classification, if known. Further interpretation requires correlation with protein studies and red blood cell indices.
Day(s) Performed
Monday through Friday
Report Available
10 daysTest 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
81364-HBB (hemoglobin, beta) full sequence
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| WBSQR | Beta Globin Gene Sequencing, B | 50996-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 47954 | Beta Globin Gene Sequencing Result | 50397-9 |
| 47955 | Interpretation | 59466-3 |