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HelpTest Code WBDDR Beta-Globin Cluster Locus Deletion/Duplication, Blood
Reporting Name
Beta Globin Cluster Locus Del/Dup,BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH) or delta-beta thalassemia
Diagnosing less common causes of beta-thalassemia; these large deletional beta thalassemia alterations result in elevated hemoglobin (Hb) A2 and usually have slightly elevated HbF levels
Distinguishing homozygous HbS disease from a compound heterozygous HbS/large beta-globin cluster deletion disorder (ie, HbS/beta zero thalassemia, HbS/delta beta zero thalassemia, HbS/HPFH, HbS/gamma-delta-beta-thalassemia)
Diagnosing complex thalassemias where the beta-globin gene and 1 or more of the other genes in the beta-globin cluster have been deleted
Evaluating and classifying unexplained increased HbF percentages
Evaluating microcytic neonatal anemia
Evaluating unexplained long standing microcytosis in the setting of normal iron studies and negative alpha thalassemia testing/normal Hb A2 percentages
Confirming gene fusion hemoglobin variants such as Hb Lepore and Hb P-Nilotic
Confirming homozygosity vs hemizygosity of alterations in the beta-like genes (HBB, HBD, HBG1, HBG2)
This test is not useful for diagnosis or confirmation of alpha thalassemia, the most common beta thalassemias, or hemoglobin variants. It also does not detect nondeletional hereditary persistence of fetal hemoglobin.
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) Analysis/Multiplex Ligation-Dependent Probe Amplification (MLPA)
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
Collection Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable:Â Yellow top (ACD)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in the original tube. Do not aliquot.
Specimen Type
Whole Blood EDTASpecimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | ||
Reject Due To
No specimen should be rejected.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.
Day(s) Performed
Wednesday, Friday
Report Available
25 to 30 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
81363-HBB (hemoglobin, beta, beta-globin) (eg, beta thalassemia), duplication/deletion analysis
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| WBDDR | Beta Globin Cluster Locus Del/Dup,B | 101634-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 48356 | Beta Globin Cluster Locus Del/Dup | 50397-9 |
| 48355 | Reviewed by | 18771-6 |
| 48357 | Interpretation | 59466-3 |