Ordering Recommendation

Use for molecular confirmation of a suspected structural hemoglobinopathy or β thalassemia.

Mnemonic
BGSEQ
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun-Sat

Reported

14-21 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

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

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81364

Components
Component Test Code* Component Chart Name LOINC
0050578 Beta Globin Full Gene Sequencing 21689-5
2001338 BGSEQ Specimen 31208-2
* 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.
Aliases
  • HBB mutation testing, B Globin gene
Beta Globin (HBB) Gene Sequencing (Temporary Referral as of 12/07/20)