Beta-Thalassemia Whole
Gene Sequencing
Beta-thalassemia whole gene sequencing is a comprehensive method used to analyze the entire beta-globin gene to identify mutations responsible for beta-thalassemia. This inherited blood disorder results from mutations that reduce or halt the production of hemoglobin, leading to anemia. Whole gene sequencing allows for the detection of even rare or unknown mutations that might not be identified through traditional genetic testing methods. It offers a precise diagnosis of the specific mutation in the beta-globin gene, helping with accurate carrier screening and genetic counseling. This test is especially important for couples at risk of having children with beta-thalassemia. By identifying mutations at the genetic level, it provides valuable information for family planning decisions. Early detection can also guide appropriate medical management and treatment options for affected individuals.
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