Diagnosis of Genetic Disorders

An introductory note explaining the nature and types of genetic disorders and the techniques available for their diagnosis

” Not every change in the DNA causes a disorder. Hence genetic diagnostics involves first identifying whether this change (called as a variant) in the genome is a normal polymorphism (common benign change) or a disease associated (pathogenic) change. And secondly, if this variant can cause a disorder in future. Another challenge is about where and how to look for the variations/mutations given that genome is quite wide and complex, and there are a variety of techniques available to study the genome.  This is what makes genetics more complex over other forms of diagnostics.” 

View/Download: Diagnosis of Genetic Disorders – AGILE Publication