β-Thalassemia: HBB (Full Gene Sequencing)

Casandra

Casandra Test Code LC64768Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252823CPT Code 81364

β-Thalassemia: HBB (Full Gene Sequencing)

Clinical Use

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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.

Test Details