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HelpTest Code WBSQR Beta-Globin Gene Sequencing, Blood (Non-Orderable)
Specimen Required
Only orderable as a reflex. For more information see:
-REVE2 / Erythrocytosis Evaluation, Blood
-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
-HAEV1 / Hemolytic Anemia Evaluation, Blood
-MEV1 / Methemoglobinemia Evaluation, Blood
-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Useful For
Only orderable as a reflex. For more information see:
REVE2 / Erythrocytosis Evaluation, Blood
HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
HAEV1 / Hemolytic Anemia Evaluation, Blood
MEV1 / Methemoglobinemia Evaluation, Blood
THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
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
Reporting Name
Beta Globin Gene Sequencing, BSpecimen Type
Whole Blood EDTASpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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.
Method Description
Genomic DNA is extracted from whole blood. The HBB gene is amplified by polymerase chain reaction (PCR). The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in all exons, introns with the exception of IVS-II-82 through IVS-II-650, the 5'UTR, the 3'UTR, and the promoter region. Results are correlated with routine studies to identify unusual beta globin variants.(Reddy PL, Bowie LJ: Sequence-based diagnosis of hemoglobinopathies in the clinical laboratory. Clin Lab Med. 1997;17[1]:85-96; Traeger-Synodinos J, Harteveld CL: Advances in technologies for screening and diagnosis of hemoglobinopathies. Biomarkers Med. 2014;8[1]:115-127)
Day(s) Performed
Monday through Friday
Report Available
10 daysSpecimen Retention Time
Whole blood: 2 weeks; Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |