β-Thalassemia: HBB (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of β-thalassemia; detect carriers; help to establish a prognosis
Special Instructions
Not provided.
Limitations
This sequencing method does not reliably detect mosaic variants, deep intronic variants, large deletions, duplications, inversions, or rearrangements. Assay results may be affected by homopolymer repeats or allele-dropout due to sequence polymorphisms in primer binding sites. It does not determine whether two heterozygous variants are on the same chromosome or different chromosomes.
Methodology
NGS
Biomarkers
No genes
Gene
LOINC Codes
- 21689-5 - HBB gene Mut Anl Bld/T
- 21689-5 - HBB gene Mut Anl Bld/T
Result Turnaround Time
16-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube
Collection Instructions
Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
Other tests from different labs that may be relevant