Use for molecular confirmation of a suspected structural hemoglobinopathy or β thalassemia.
Polymerase Chain Reaction/Sequencing
New York DOH Approval Status
Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
Background Information: Beta Globin (HBB) Sequencing
Characteristics: Structural hemoglobinopathies or thalassemias (insufficient or absent beta-chain production).
Incidence: Varies with ethnicity.
Inheritance: Usually autosomal recessive, infrequently autosomal dominant.
Cause: Pathogenic variants in the HBB gene.
Clinical Sensitivity: Up to 97 percent, depending upon ethnicity.
Methodology: Bidirectional sequencing of the HBB coding regions, intron-exon boundaries, 5' proximal promoter and untranslated region, 3'polyadenylation signal, and intronic variants c.93-21 (IVS-I-110), c.316-197 (IVS-II-654), c.316-146 (IVS-II-705), c.316-106 (IVS-II-745), and c.316-86_316-85 (IVS-II-765 L1).
Analytical sensitivity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Large deletions and variants in distal regulatory elements are not detected.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|0050578||Beta Globin Full Gene Sequencing||21689-5|
- HBB mutation testing, B Globin gene