Beta thalassemia is an inherited blood disorder with significant prevalence in the Indian population. This condition requires lifelong care and support for the affected individual-multiple blood transfusions and bone marrow transplantation. Several important mutations (pathogenic) have been identified in different communities in India.
This test sequences the entire beta-hemoglobin (HBB) gene to detect variants of pathogenic nature, which is useful in clinical diagnosis (e.g., prenatal screening, carrier testing). This test combined with genetic counseling can reduce the burden for this critical disease.
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