Test Details: Beta-Thalassemia is an inherited single gene disorder caused by mutations in beta globin chains, responsible for haemoglobin production. Beta Thalassemia is caused by point mutation, deletion or insertion within the Beta globin gene. Individuals are tested for the five most common mutations IVS1-5(G-C), IVS1-1(G-T), FS41-42(-CTTT), FS8-9(+G) and 619 bp deletion for diagnosis of Beta Thalassemia major or minor condition. The samples that are negative for 5 common mutations are then subjected to HBB gene sequencing. The test sequences the coding regions of the beta-globin gene (HBB) in both directions, identifying haemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia. The presence of Beta Thalassemia mutations in both the parents is indicative of high risk of Beta Thalassemia major/minor in fetus, necessitating mutation analysis of pre-natal sample.