TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: WBDDR    
Beta-Globin Cluster Locus Deletion/Duplication, Blood

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test is recommended to identify a variety of conditions involving large deletions or duplications within the beta-globin gene cluster locus region including:

-Identifying large deletions causing increased hemoglobin (Hb) F levels such as hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemias, and gamma-delta-beta-thalassemia

-Identifying beta thalassemia conditions in cases where beta gene sequencing did not find a beta-thalassemia mutation

-Confirming gene fusion hemoglobin variants such as Hb Lepore and Hb P-Nilotic

-Investigating newborns with unexplained microcytic anemia that is suspected to be caused by epsilon-gamma-delta-beta-thalassemia

-Confirming homozygosity vs hemizygosity of mutations in the beta-like genes (HBB, HBD, HBG1, HBG2)

-Investigating individuals older than 12 months of age with unexplained microcytosis and normal hemoglobin electrophoresis for whom more common causes of microcytosis such as iron deficiency and alpha-thalassemia have been excluded

 

This test may result as a reflex secondary to testing from several evaluations (HAEVP / Hemolytic Anemia Evaluation; HBELC / Hemoglobin Electrophoresis Cascade, Blood; MEVP / Methemoglobinemia Evaluation; REVE / Erythrocytosis Evaluation; THEVP / Thalassemia and Hemoglobinopathy Evaluation).

Specimen Type Describes the specimen type validated for testing

Whole Blood EDTA

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Only orderable as a reflex. For more information see:

-HAEVP / Hemolytic Anemia Evaluation

-HBELC / Hemoglobin Electrophoresis Cascade, Blood

-MEVP / Methemoglobinemia Evaluation

-REVE / Erythrocytosis Evaluation

-THEVP / Thalassemia and Hemoglobinopathy Evaluation

 

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.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

2 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

No specimen should be rejected.

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
Whole Blood EDTARefrigerated