THALASSEMIA BETA MUTATION ANALYSIS

THIS TEST IS USEFUL FOR DETECTION OF MUTATIONS IN THE HBB GENE LINKED TO BETA THALASSEMIA. THIS ASSAY DETECTS MORE THAN 100 DIFFERENT MUTATIONS IN THE PROMOTER REGION, EXON 1, IVS-I & EXON 2 AND PART OF IVS-II OF THE HBB GENE. IT ALSO DETECTS THE DELETION OF 690 BP IN IVS II AND EXON 3.THE CLINICAL SIGNIFICANCE OF THIS ASSAY IS TO IDENTIFY DISEASE-CAUSING MUTATIONS IN INDIVIDUALS AFFECTED WITH BETA-THALASSEMIA; TO IDENTIFY CARRIERS IN HIGH-RISK ETHNIC GROUP OR PEOPLE WITH POSITIVE FAMILY HISTORY & FOR PRENATAL DIAGNOSIS OF BETA-THALASSEMIA.