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.

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