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Test Code WBDDR Beta-Globin Cluster Locus Deletion/Duplication, 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

-REVE1 / Erythrocytosis Evaluation, Whole Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

Specimen Type: Peripheral blood

Collection Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in the original tube.


Secondary ID

48052

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

-REVE1 / Erythrocytosis Evaluation, Whole Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

Polymerase Chain Reaction (PCR) Analysis/Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Beta Globin Cluster Locus Del/Dup,B

Specimen Type

Whole Blood EDTA

Specimen 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

-REVE1 / Erythrocytosis Evaluation, Whole Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday; 10 a.m., Friday; 2 p.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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 In Process

 

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