Test Catalog

Test ID: WBSEQ    
Beta Globin Gene Sequencing, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of beta thalassemia intermedia or major

 

Identification of a specific beta thalassemia mutation (ie, unusually severe beta thalassemia trait)

 

Evaluation of an abnormal hemoglobin electrophoresis identifying a rare beta globin variant

 

Evaluation of chronic hemolytic anemia of unknown etiology

 

Evaluation of hereditary erythrocytosis with left-shifted p50 oxygen dissociation results

 

Preconception screening when there is a concern for a beta hemoglobin disorder based on family history

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

A hemoglobin electrophoresis evaluation (HBELC / Hemoglobin Electrophoresis Cascade, Blood) is always indicated prior to beta globin gene sequencing because these conditions can be complex and protein data allows accurate and rapid classification of the patient phenotype.

 

Beta globin gene (HBB) sequencing can be used to identify hemoglobin variants and the most common beta thalassemia mutations, including beta plus and beta zero thalassemias. It also identifies hyperunstable hemoglobin variants and dominant beta thalassemia mutations, as well as other hemoglobin variants that cannot be identified by protein methods. Some hemoglobin disorders will not be detected by beta globin gene sequencing, such as large deletional mutations and crossover events. As such, the results of this test should always be interpreted within the context of the protein studies and RBC indices.

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

This is a second-tier evaluation of beta thalassemia minor, intermedia, and major, as well as beta globin variant identification.

 

First-tier testing for beta thalassemia or beta globin variant detection is THEVP / Thalassemia and Hemoglobinopathy Evaluation or HBELC / Hemoglobin Electrophoresis Cascade, Blood.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Beta Globin Gene Sequencing, B

Aliases Lists additional common names for a test, as an aid in searching

Beta Globin
Beta Thalassemia
Beta-thalassemia
Thalassemia: Beta
Hemoglobin Variant: Beta
HBB
Hemoglobin S
Hb S
Hemoglobin C
Hb C
Hemoglobin E
Hb E
Beta Globin Sequencing
Beta Hemoglobin