Beta Globin (HBB) Sequencing, Fetal

Also known as: BG NGS FE

Clinical Use

Use

Beta thalassemia is caused by decreased or absent synthesis of the hemoglobin beta chain resulting in variable clinical presentations ranging from mild anemia to transfusion dependence. Structural hemoglobinopathies can cause sickling disorders, microcytic or hemolytic anemia, cyanosis, or erythrocytosis. This test is used for molecular confirmation of suspected structural hemoglobinopathies or beta thalassemia in fetal samples. Pathogenic germline variants within the HBB gene are the cause. The test is not intended to detect all HBB variants.

Special Instructions

Not provided.

Limitations

A negative result does not exclude beta thalassemia as not all HBB variants are detected by this assay. The test detects variants within coding regions and intron-exon boundaries of the HBB gene. Deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Large deletions/duplications, regulatory region variants upstream of c.-250, deep intronic variants (other than those specified), and noncoding transcripts will not be identified. Diagnostic errors may occur due to rare sequence variations. Variants in some regions may not be detected due to technical limitations, pseudogenes, repetitive, or homologous regions.

Test Details