A number of genetic disorders are known to result from the defects in a single gene. Although rare in comparison to infectious diseases, genetic disorders cause enormous misery as many of them do not have a permanent cure. In the absence of specific treatment, molecular diagnosis, carrier detection and prenatal diagnosis or pre-implantation genetic diagnosis for these disorders with appropriate genetic counseling is the best approach to prevent their recurrence/transmission to the future generations. We provide genetic diagnostic services using targeted testing approaches for close to 35-40 such monogenic disorders. The strategy is to identify the causal genetic defect in the proband, screen individuals in the family for carrier status, track inheritance of the genetic defect in the fetus by performing prenatal diagnosis on fetal samples (procured at appropriate stage of pregnancy through hospitals) and offer appropriate counseling to the family.The diseases analysed include Hemoglobinopathies, Musculopathies, Coagulopathies and Neuro-degenerative diseases among others.We also offer consultation out-patient services through expert Clinical and Medical Geneticists.
In addition, CCMB has also initiated Next Generation Sequencing (NGS) services for diagnosis of very rare genetic disorders using Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) approaches. The clinical and Medical Geneticists also help in appropriate clinical diagnosis and facilitate genetic testing and interpret the results better. These strategies provide an unparalleled power for detecting the causal defect in these disorders. With state of art NGS facility and experienced scientists and data analysts, we aim to solve and understand these medical mysteries in the long run, in addition to providing quality diagnostic services. Identification of the cause helps in initiation of any available therapies, augment multi-disciplinary care and enable the clinical geneticist to offer more precise prognostication. It also enables the family to choose appropriate reproductive strategies to prevent the recurrence of the disease as mentioned above.