Beta Globin ( HBB ) Sequencing

Use for molecular confirmation of β thalassemia or a structural hemoglobinopathy involving the β-globin gene. To assess for HBB variants associated with hereditary persistence of fetal hemoglobin (HPFH), order Beta Globin (HBB) Deletion/Duplication by MLPA (3019876). Inform the laboratory if patient has received gene therapy; test interpretation may be impacted in such cases. For example, certain gene therapies may impact the performance of this test and interpretation of this result; the presence or absence of variants, zygosity, and HBB gene copy number may not be determined in such cases. Inform the laboratory if patient has received gene therapy by submitting the patient history form linked below.