β-Thalassemia: HBB (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of β-thalassemia; detect carriers; help to establish a prognosis
Special Instructions
In cases with a known mutation, physicians may prefer ordering β-Thalassemia: HBB (Known Mutation) [252827]. Prenatal testing requires ordering β-Thalassemia: HBB Prenatal Test [252867] and submitting a maternal blood sample. An informed consent attestation for genetic testing is required.
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
LOINC Codes
- 21689-5
- 21689-5
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