β‑Thalassemia: HBB Prenatal Test (Known Mutation)
Use
This test is intended to detect the presence or absence of a known familial mutation in the HBB (beta‑globin) gene for prenatal diagnosis. It is used when a specific familial variant has been previously identified in the ordering physician’s documentation, facilitating targeted analysis of those amplicons. Ideal for high‑risk pregnancies with documented familial beta‑thalassemia variants. This avoids broader sequencing when the mutation is already known.
Special Instructions
Not provided.
Limitations
Only familial known mutations are assessed; variants not previously documented in the family will not be detected. Number of amplicons tested depends on the known mutation’s number and location. Additional time may be required if confirmatory or reflex testing is needed.
Methodology
NGS (Targeted)
Biomarkers
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
Tissue
Volume
Not provided
Minimum Volume
Not provided
Container
Sterile plastic conical tube or two confluent T‑25 flasks for fetal testing; lavender‑top (EDTA) OR yellow‑top (ACD) tube for blood
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C
Other tests from different labs that may be relevant