β-Thalassemia: HBB Prenatal Test (Full Gene Sequencing)
Use
Use for prenatal analysis. Can confirm a clinical diagnosis of β-thalassemia, detect carriers, and help to establish a prognosis.
Special Instructions
Not provided.
Limitations
The analysis is unable to reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It may be affected by allele-dropout, does not reliably determine the exact numbers of T/A or microsatellite repeats, and cannot conclude whether two heterozygous variants are present on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
HBB
Gene
LOINC Codes
- 21689-5 - HBB gene Mut Anl Bld/T
- 21689-5 - HBB gene Mut Anl Bld/T
Result Turnaround Time
12-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 to 15 mL
Minimum Volume
10 mL
Container
Sterile plastic conical tube
Collection Instructions
Direct specimens can be submitted, but culturing is required. Maternal and paternal blood samples are necessary for fetal testing.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container; use of improper anticoagulant
Other tests from different labs that may be relevant