Alpha-Globin Gene Sequencing

The patient could have a deletion or duplication that would not be identified by the sequencing test. The Alpha-Globin Common Mutation Analysis test (test code 11175) detects the 7 most common deletions known to cause alpha-thalassemia.

If the patient has negative results with both the Alpha-Globin Common Mutation Analysis test and the Alpha-Globin Gene Sequencing test, rare deletions or duplications that would not be identified by either of these tests could be causing abnormal hemoglobin indices. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124) can detect other rare deletions or duplications in the alpha-1 and alpha-2 genes.

To discuss the patient or additional testing options, please call Quest Genomics Client Services at 1-866.GENE.INFO (1-866-436-3463) to speak with a genomic science specialist.

Variants that have not been previously described in the literature or whose significance is unclear based upon currently available evidence must be correlated with the patient’s clinical presentation and family history. Family studies may be indicated to better understand the clinical significance of this variant.

To discuss the patient or additional testing options, please call Quest Genomics Client Services at 1-866.GENE.INFO (1-866-436-3463) to speak with a genomic science specialist.

Both parents must be carriers of an alpha-thalassemia pathogenic variant for a pregnancy to be at risk. The partner should be screened to evaluate hemoglobinopathy carrier status (Hemoglobinopathy Evaluation, test code 35489). Molecular genetic testing may also be appropriate for the partner.

To discuss the patient or additional testing options, please call Quest Genomics Client Services at 1-866.GENE.INFO (1-866-436-3463) to speak with a genomic science specialist.