Test Details: Beta-Thalassemia is an inherited single gene disorder caused by mutations in beta globin gene, 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. Identification of Beta Thalassemia mutation in both male and female parents as well as child confirms high risk of Beta Thalassemia major/minor condition in fetus and thereby necessitates Beta Thalassemia mutation analysis of pre-natal sample.