Beta Globin (HBB) Sequencing
Also known as: BG NGS
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
Not provided.
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.
Methodology
NGS
Biomarkers
HBB
Gene
LOINC Codes
- 66746-9 - Specimen type
- 21689-5 - HBB gene Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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