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HelpTest Code LAB8891 Alpha-Globin Gene Sequencing, Blood
Additional Codes
WASQR
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
Secondary ID
47958Useful 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
Specimen Type
Whole Blood EDTASpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | 14 days |
On-campus collections: Tube to 99 or deliver to University Extension Hospital Room EH318. Do NOT Spin.
Off-campus collections: Do NOT Spin. Specimen to be stored/transported at (ambient, refrig, frozen) temp.
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
A summary interpretation will be provided as a part of 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.
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
Report Available
10 daysSpecimen Retention Time
Blood: 2 weeks; DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81259-HBA1/HBA2; full sequence
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| WASQR | Alpha Globin Gene Sequencing, B | 87730-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 47952 | Alpha Globin Gene Sequencing Result | 50397-9 |
| 47953 | Interpretation | 59466-3 |