What is Rare Genetic Disease Diagnostics?

Rare Genetic Disease Diagnostics involves advanced genomic testing methods, such as whole exome sequencing (WES) and whole genome sequencing (WGS), to identify the underlying genetic causes of undiagnosed pediatric conditions. These tests analyze a child's DNA to detect mutations that may be responsible for developmental delays, metabolic disorders, or other rare diseases. WES examines the protein-coding regions of genes, while WGS provides a comprehensive view of the entire genome, offering higher diagnostic yields for complex cases.