Beta Thalassemia (Prenatal + Parental Testing ) - 30 Mutation Panel, Amniotic Fluid/EDTA Blood

Beta thalassemia is a genetic blood disorder characterised by reduced or absent production of haemoglobin. It is caused by rare, disease-causing mutations in the HBB gene, which provides instructions to the body for making a protein called beta-globin. Beta Thalassemia Prenatal and Parental Testing is a comprehensive genetic test that involves both prenatal and parental testing. It utilizes Sanger sequencing and PCR fragment analysis techniques to identify 30 mutations associated with beta thalassemia in the HBB gene. This test has a high detection rate of 97-99% for disease-causing as well as rare mutations. Beta thalassemia is an inherited blood disorder characterized by reduced or absent production of beta-globin chains, leading to abnormal hemoglobin production. The test is offered to couples who are carriers of beta thalassemia or have a family history of the condition. By analyzing samples from both the fetus (prenatal testing) and the parents (parental testing), this comprehensive approach allows for early detection and assessment of the risk of beta thalassemia. It enables parents to make informed decisions about their pregnancy, plan appropriate medical interventions or treatments, and provides accurate genetic counseling based on the identified hemoglobin variants and the most common beta thalassemia sequence variants.