Molecular Diagnosis Back

A number of genetic disorders are known to result from the defects in a single gene. Although rare in comparison to the infectious diseases, genetic disorders cause enormous misery since they may develop in later life, are usually incurable. In the absence of specific treatment, molecular diagnosis, carrier detection, genetic counseling, pre-pregnancy monitoring, pre-implantation genetic diagnosis and prenatal diagnosis for these disorders becomes the best approach to prevent their transmission to next generation. CCMB provides genetic diagnostic services for close to 30 such monogenic disorders. The strategy is to identify the causal genetic defect in the proband, screen individuals in the family for carrier status, tracking inheritance of the genetic defect in the fetus by performing prenatal diagnosis on fetal samples (procured at appropriate stage of pregnancy through hospitals) and genetic counseling. The diseases analysed include Hemoglobinopathies, Musculopathies, Bleeding and clotting disorders and Neurodegenerative diseases.

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