Beta-Globin Gene Sequencing, Blood
Use
Beta-globin gene sequencing is useful in the evaluation of beta-globin chain variants and beta thalassemia. It detects almost all beta-globin variants and the most common beta-thalassemia sequence variants, significant in diagnosing conditions such as beta thalassemia intermedia or major. This test is also valuable in identifying specific severe beta thalassemia traits and evaluating abnormal hemoglobin electrophoresis for rare beta-globin variants. Furthermore, it is instrumental in evaluating hereditary erythrocytosis with specific oxygen dissociation results and chronic hemolytic anemia.
Special Instructions
This test is only orderable as a reflex through other evaluations, such as the Hemolytic Anemia Evaluation or Hemoglobin Electrophoresis Evaluation. Coordination with clinical findings and other laboratory tests is necessary for an accurate diagnosis.
Limitations
The assay will not detect large deletions or duplications within the beta-globin gene nor hybrid beta-globin variants like Hb Lepore. It cannot distinguish between cis and trans alterations in the same chromosome and may complicate diagnosis. It requires correlation with protein data, other laboratory findings, and family studies to avoid misinterpretation of results.
New York Approved
Methodology
Sanger
Biomarkers
LOINC Codes
- 50996-8
- 50397-9
- 59466-3
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
1 mL
Container
Preferred: Lavender top (EDTA), Acceptable: Yellow top (ACD)
Causes for Rejection
Moderately to severely clotted samples are rejected; gross hemolysis is acceptable
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |