Test ID: WBSEQ    
Beta Globin Gene Sequencing, Varies

Diagnosis of beta thalassemia intermedia or major

Identification of a specific beta thalassemia sequence variant (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

Beta-globin gene (HBB) sequencing can be used to identify hemoglobin variants and the most common beta thalassemia sequence variants, including beta plus and beta zero thalassemias. It also identifies hyper-unstable hemoglobin variants and dominant beta thalassemia sequence variants, 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 alterations and crossover events. As such, the results of this test should always be interpreted within the context of the protein studies and red blood cell indices.

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

A hemoglobin electrophoresis evaluation (HBEL1 / Hemoglobin Electrophoresis Evaluation, 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.

• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)

Polymerase Chain Reaction (PCR)/Sanger Sequencing