α-Thalassemia Analysis

This test is used for diagnostic or carrier testing for alpha-thalassemia.

To test fetal specimens, including cord blood, order α-Thalassemia, Fetal Analysis [484293].

This test includes the following genes: HBA1, HBA2.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. 

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Analysis of the alpha-globin (HBA) gene cluster is performed by polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA). Alpha-globin variants included in the analysis are the Constant Spring non-deletion variant and the following deletions: -alpha3.7, -alpha4.2, --alpha20.5, --SEA, --FIL, --THAI, --MED, and the HS-40 regulatory region.

Tamary H, Dgany O. Alpha-Thalassemia. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2005 Nov 1 [updated 2024 May 23]. PubMed 20301608