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.
Over the past 10 years, FRIGE has developed a suite of biochemical diagnostic tests that can diagnose LSDs in a cost-effective and timely manner. Common LSDs that can be diagnosed at FRIGE are: Gaucher, Niemann-Pick A, Niemann-Pick B, Niemann-Pick C, Morquio-A, Morquio-B, Pompe, Fabry, Tay-Sachs, GM1 Gangliosidosis, Maroteaux-Lamy, Hurler, Hunter, Sanphilippo-A, Sanphilippo-B, Sandhoff, Mucolipidosis-II alpha/beta, Mucolipidosis-III alpha/beta, NCL-2, Metachromatic leukodystrophy and Krabbe diseases.
FRIGE is the only centre in India where these tests are accredited by ERNDIM, Europe’s highest diagnostic test certification body.
FRIGE is also one of only 6 centres in the country that provides rapid and accurate diagnosis for LSDs and currently holds a national patent on rapid and cost-effective I-cell screening test.
For further details regarding specific biochemical tests, please click here.