Institute of Human Genetics Institute of Human Genetics

Tagged “diagnostic test”

diagnostic test

A novel suite of biochemical diagnostic tests for Lysosomal Storage Disorders

Lysosomal Storage Disorders (LSDs) are a group of 70 diseases that are characterised by an impaired lysosome enzyme and occurs in 1 in 5000 births. Diagnosing these diseases is extremely challenging as it requires accurate clinical data collection and subsequent use of specific lysosomal enzyme substrates.