Genetic disorders cause enormous burden since they may develop in later life, and are usually incurable. In the absence of specific treatment, molecular diagnosis, carrier detection, genetic counselling, pre-pregnancy monitoring, pre-implantation genetic diagnosis and prenatal diagnosis for these disorders becomes the best approach to prevent their transmission to the next generation.
IGHGD 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, establish inheritance of genetic defect and perform prenatal diagnosis on fetal samples (procures at appropriate stage of pregnancy through hospitals) and genetic counseling. The diseases analysed include Hemoglobinopathies, Musculopathies and Neurodegenerative diseases.
Diagnostic services offered
- Beta Thalassemia
- Wilson’s Disease
- JAK2 Mutation
- MTHFR Mutation
- Factor V Leiden
- SRY Mutation
Established molecular analysis for diseases/ Carrier detection in more than 5000 cases of single gene disorders.
