Beta Globin (HBB) Gene Sequencing
Ordering Recommendation

Molecular confirmation of a suspected structural hemoglobinopathy or beta thalassemia.

Polymerase Chain Reaction/Sequencing
14-21 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Normal: This specimen has a normal sequence of the b-globin gene.  No mutations were identified within the b-globin coding region, the intron/exon splice site boundaries or intronic positions IVS-II 654, IVS-II 705, and IVS-II 745.   Gene deletions or mutations causing thalassemias or hemoglobinopathies outside of these regions will not be identified.
Interpretive Data
Background Information: Beta Globin (HBB) Sequencing
Structural hemoglobinopathies or thalassemias (insufficient or absent beta- chain production).
Incidence: Varies with ethnicity.
Inheritance: Usually autosomal recessive, infrequently autosomal dominant.
Cause: Pathogenic mutations i n the HBB gene.
Mutations tested: The complete protein coding sequence with exon/intron boundaries, proximal promoter, 5' and 3' untranslated regions, and intronic mutations IVS-II-654, IVS-II-705 and IVS-II-745.
Clinical Sensitivity: Up to 97 percent, depending upon ethnicity .
Methodology: Bidirectional sequencing of the HBB coding regions, intron-exon boundaries, proximal promoter, 5' and 3' untranslated regions, and intronic mutations IVS-II-654 , IVS-I I-705 and IVS-II-745.
Analytical sensitivity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Large deletions, and mutations in distal regulatory elements are not detected.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
View Hotline History
Component Test Code*Component Chart NameLOINC
0050578Beta Globin Full Gene Sequencing21689-5
2001338BGSEQ Specimen31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • HBB mutation testing, B Globin gene