Beta Globin (HBB) Sequencing

Casandra

Casandra Test Code AR05835Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004547CPT Code 81364

Beta Globin (HBB) Sequencing

Also known as: BG NGS

Clinical Use

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Use

The Beta Globin (HBB) Sequencing test is used for molecular confirmation of β thalassemia or a structural hemoglobinopathy involving the β-globin gene. It's also used to assess HBB variants associated with hereditary persistence of fetal hemoglobin (HPFH). This test helps diagnose conditions like beta thalassemia, hemoglobinopathies, and provides information on the presence of pathogenic variants or mutations within the HBB gene, which can inform treatment decisions.

Special Instructions

Inform the laboratory if the patient has received gene therapy as this can affect test performance and interpretation. The test is not approved in New York, and specimens from New York clients will be sent to a New York state-approved laboratory. A patient history form for hemoglobinopathy/thalassemia testing and informed consent for genetic testing are required for New York patients.

Limitations

A negative result does not exclude the diagnosis of beta thalassemia. The test detects variants within the coding regions and intron-exon boundaries of the HBB gene, but deletions/duplications/insertions may not be detected. Variants upstream of c.-250, deep intronic variants not described, large deletions/duplications, and certain complex genetic events are not identified in this test. Technical limitations may affect detection due to pseudogenes, repetitive, or homologous regions. The test is not intended to detect low-level mosaic or somatic variants.

Test Details