Beta-Globin Complete

Both parents must be carriers of a thalassemia pathogenic variant for a pregnancy to be at risk. The partner should be screened to determine his/her hemoglobinopathy carrier status (Hemoglobinopathy Evaluation, test code 35489X). Variant testing may also be appropriate for the partner.

Please call Quest Genomics Client Services at 866.GENE.INFO to discuss the case with a genomic science specialist.

There may be other genetic causes for severe anemia. For example, an alpha-globin triplication (5 alpha gene copies), together with a beta zero pathogenic variant, 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.

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 call Quest Genomics Client Services at 866.GENE.INFO to speak with a genomic science specialist before ordering this test. 

The patient could have a rare deletion or duplication that would not be identified in the Beta-Globin Complete sequencing test. The Beta-Globin Gene Dosage Analysis test (test code 16346 [16347 for NY]) can detect other deletions or duplications in this gene.

For questions regarding testing, please call Quest Genomics Client Services at 866.GENE.INFO to discuss with a genomic science specialist.