Alpha-Globin Gene Sequencing, Blood

Casandra

Casandra Test Code MC56005Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WASQRCPT Code 81259

Alpha-Globin Gene Sequencing, Blood

Clinical Use

Use

Alpha-globin gene sequencing is instrumental in identifying both point alterations and small deletions within the alpha-globin genes that account for nondeletional alpha-thalassemia variants. While large deletions are common, representing 90% of alterations, this sequencing aids in detecting the remaining 10%. Alpha-thalassemia is globally prevalent, impacting approximately 5% of the population and is common among individuals from Southeast Asian, African, Mediterranean, Indian, and Middle Eastern descent. This sequencing is particularly useful as a follow-up to abnormal hemoglobin electrophoresis when alpha-globin chain variants are identified or in symptomatic individuals to test for nondeletional alpha thalassemia.

Special Instructions

This test is not orderable directly; it is available only as a reflex test and must be considered in conjunction with hemoglobin electrophoresis, clinical insights, family history, and other laboratory data.

Limitations

This assay will not detect large deletions or duplications within the alpha-globin genes. It should be interpreted with other clinical findings, and the accuracy depends on the information provided. Misinterpretation may result if the supplied information is incomplete. Rare genetic polymorphisms could contribute to false-negative or false-positive results, necessitating further testing if the findings are discordant with clinical observations.

Test Details

New York Approved