There may be other genetic causes for severe anemia. For example, an alpha-globin triplication (5 alpha gene copies), together with a beta zero mutation, can result in beta-thalassemia intermedia. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X [16125X for NY]) can detect an alpha-globin triplication. Please call 866-GENE-INFO to discuss the case, the patient’s indices, and additional testing options.
Alternatively, the patient could have a rare deletion or duplication that would not be identified in the Beta-Globin Complete test. The Beta-Globin Gene Dosage Analysis test (test code 16346 [16347 for NY]) can detect other deletions or duplications in this gene. Please contact 866-GENE-INFO to speak with a genetic counselor before ordering this test.