Genetic Testing
Large numbers of genetic disorders are known to result from defects in a single gene. Although rare in comparison to the infectious diseases, these disorders cause enormous misery since they may develop later in life and are usually incurable. In the absence of specific treatment, molecular diagnosis, carrier detection, genetic counseling, pre-pregnancy monitoring, and prenatal diagnosis for these disorders becomes the best approach to prevent their transmission to next generation.
Our lab at CCMB provides molecular diagnostic services for close to 30 common monogenic disorders including hemoglobinopathies, musculopathies, neurodegenerative disorders, congenital deafness and mitochondrial 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 stages of pregnancy through hospitals) and proceed further for genetic counselling. In addition, we also provide predictive testing for late onset diseases including various spinocerebellar ataxias etc and susceptibility testing for neural tube defects (MTHFR), thrombophilias (Factor V Leiden and Prothrombin), chronic pancreatitis and hemochromatosis (HFE).
For further information on the diseases, charges and proforma for genetic testing, please scroll through the attached documents
Our lab at CCMB provides molecular diagnostic services for close to 30 common monogenic disorders including hemoglobinopathies, musculopathies, neurodegenerative disorders, congenital deafness and mitochondrial 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 stages of pregnancy through hospitals) and proceed further for genetic counselling. In addition, we also provide predictive testing for late onset diseases including various spinocerebellar ataxias etc and susceptibility testing for neural tube defects (MTHFR), thrombophilias (Factor V Leiden and Prothrombin), chronic pancreatitis and hemochromatosis (HFE).
For further information on the diseases, charges and proforma for genetic testing, please scroll through the attached documents
Genetic Counselling
Several clinical conditions are predicted by defects in genes. Many of them are causal in nature while several others predict increased risk for these conditions. Since genetic disorders are usually incurable, prevention of their inheritance or their development is the best available option.
Through genetic counselling, our lab at CCMB provides assistance in determining the genetic nature of any clinical condition based on clinical history, biochemical analyses and pedigree analysis. This is supplemented with information about the clinical course, probability of developing and transmitting it, ways in which the disease condition can be prevented or ameliorated, pre-pregnancy monitoring and prenatal diagnosis.
Through genetic counselling, our lab at CCMB provides assistance in determining the genetic nature of any clinical condition based on clinical history, biochemical analyses and pedigree analysis. This is supplemented with information about the clinical course, probability of developing and transmitting it, ways in which the disease condition can be prevented or ameliorated, pre-pregnancy monitoring and prenatal diagnosis.
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