Test Details: β-thalassemia is a hereditary blood disorder, characterized by reduced or absent synthesis of the haemoglobin beta chain that cause microcytic hypochromic anemia. Prenatal diagnosis can be performed in the first or second trimester of pregnancy by DNA analysis. The complete coding region sequencing of HBB gene can detect all the common point mutations (SNVs) and small indels, as well as novel and rare mutations. 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 diagnosis.