Hemoglobinopathies

Hemoglobinopathies are a group of common, inherited disorders of hemoglobin, resulting in either the synthesis of structurally abnormal globin subunits or a reduced synthesis of structurally normal globin subunits (thalassemias). ARUP offers both screening and diagnostic tests for hemoglobinopathies, including sickle cell anemia, beta thalassemia, and alpha thalassemia. Prenatal diagnosis is also available.

Please click on the test code or test name to obtain a link to the Patient History Form for the desired test.

Test # Test Name Additional Information Test Keywords
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies HB CASCADE
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Hemoglobinopathies BG FGA, Beta thalassemia, beta globin, HBB
2010113 Beta Globin (HBB) Deletion/Duplication Hemoglobinopathies BG DD, Beta thalassemia, beta globin, HBB
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobinopathies LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
2005408 Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations Hemoglobinopathies HPFH
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Hemoglobinopathies HB SCE FE
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility Hemoglobinopathies SCKL
2005757 Carboxyhemoglobin Quantitation, Whole Blood by Co-Oximetry Hemoglobinopathies CARBOXY HB
0049090 Heinz Body Stain Hemoglobinopathies Unstable Hemoglobinopathies, Hemolytic Anemias
0049020 Hemoglobin, Unstable Hemoglobinopathies HGB UNSTAB
2002984 Oxygen Dissociation (P50) by Hemoximetry Hemoglobinopathies HEMOX
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Hemoglobinopathies HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions Hemoglobinopathies ALPHA THAL, Hemoglobinopathies
2001582 Alpha Globin (HBA1 and HBA2) Sequencing Hemoglobinopathies AG FGS, Hemoglobinopathies