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 who are negative for the five most common mutations IVS1-5(G-C), IVS1-1(G-T), FS41-42(-CTTT), FS8-9(+G) and 619 bp deletion are then tested by HBB gene sequencing method for diagnosis of Beta Thalassemia major or minor condition. The test sequences the coding regions of the beta-globin gene (HBB) in both directions, identifiying hemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia. 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 diagnosis.