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HelpOrder Code WASQR Alpha-Globin Gene Sequencing, Blood
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: Yellow top (ACD)
Specimen Volume: 4 mL
Useful For
Testing for nondeletional alpha thalassemia in a symptomatic individual
Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha-globin chain variant
Evaluating for nondeletional alpha thalassemias in an algorithmic process for:
-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
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
Reporting Name
Alpha 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 HBA1 and HBA2 genes are 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 the trace files analyzed for variations in all exons, introns, and the polyadenylation site. Results are correlated with routine studies to identify unusual alpha-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]:119-131)
Day(s) Performed
Monday through Friday
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81259-HBA1/HBA2; full sequence