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Alpha-Globin Common Mutation Analysis

Test codes: 11174 , 11175 

Consider eliminating iron deficiency anemia as a possibility.

In the absence of iron deficiency, there may be other genetic causes for a low MCV. Rare pathogenic variants in the alpha-1 and alpha-2 genes may be present and may be detectable through 2 other assays. Alpha-Globin Gene Sequencing (test code 16116X) can detect pathogenic variants (point mutations) in these genes. The Alpha-Globin Gene Deletion or Duplication assay (test code 16124X) can detect other deletions or duplications in these 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.

One would not expect to see such abnormal indices when 1 gene is deleted. Iron deficiency/low ferritin should be ruled out as a cause of the abnormal red blood cell (RBC) indices.

In addition to the 1 gene deletion identified, the patient could also have a pathogenic variant (point mutation) or a rare deletion or duplication that would not be identified using the common mutation analysis test. The Alpha-Globin Gene Sequencing assay (test code 16116X) can detect pathogenic variants (point mutations) in these genes. Additionally, the Alpha-Globin Gene Deletion or Duplication assay (test code 16124X) can detect other rare deletions or duplications of these genes that would not be identified with either the Alpha-Globin Common Mutation test or Alpha-Globin Sequencing.

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 for alpha-thalassemia for a pregnancy to be at risk. The partner should be screened to determine hemoglobinopathy carrier status (test code 35489X, Hemoglobinopathy Evaluation). Molecular genetic testing of the partner may also be appropriate.

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.

Reference

  1. Tammary H and Dgany O. Alpha Thalassemia. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®.  University of Washington, Seattle. Updated May 23, 2024. Accessed March 14, 2025

 

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.

 

Document FAQS.25 Version: 1

Version 1: effective 04/27/2026 to present

Version 0: Effective 09/05/2012 to 04/27/2026

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