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 by ARMS PCR method for diagnosis of Beta Thalassemia major or minor condition. If the sample is negative for 5 common mutations, then it is subjected to HBB gene sequencing. The test helps in identifying haemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia.