β‑Thalassemia: HBB Prenatal Test (Known Mutation)

Casandra

Casandra Test Code LC04603Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252870CPT Code 81362

β‑Thalassemia: HBB Prenatal Test (Known Mutation)

Clinical Use

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

This option is available only when the mutation is known and documented by the ordering physician. If the mutation cannot be documented, test 252867 (full sequencing option) should be ordered. Informed Consent for Genetic Testing (L7832) is referenced for procedural context.

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.

Test Details