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
Physicians may opt to order test 252870 if a known mutation is documented. It is recommended to contact CMBP genetic counselors at 800-345-4363 before submitting a prenatal sample. Maternal and paternal blood samples are required for this test, submitted on separate test request forms. Maternal cell contamination should be ordered for maternal blood (code 511402) as part of fetal testing.
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
LOINC Codes
- 21689-5
- 21689-5
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