Lysosomal storage disorders are a group of inherited metabolic diseases caused by defects in lysosomal enzymes or associated proteins, resulting in progressive accumulation of undegraded substrates within cells. These disorders commonly affect the nervous system, liver, spleen, skeleton, heart, eyes, and other organs, with highly variable age of onset and clinical presentation.

This panel includes genes associated with the major lysosomal storage disorders, including Gaucher disease, Fabry disease, Pompe disease, metachromatic leukodystrophy, Krabbe disease, Niemann-Pick disease, mucopolysaccharidoses, neuronal ceroid lipofuscinoses, and cystinosis. Representative genes include GBA, GLA, GAA, ARSA, GALC, NPC1, IDUA, CTNS, HEXA, and SGSH.

This panel is recommended for patients with clinical features suggestive of a lysosomal storage disorder, particularly those with neurodegeneration, developmental regression, hepatosplenomegaly, skeletal abnormalities, cardiomyopathy, or multisystem disease. Early molecular diagnosis is important because several lysosomal disorders have disease-specific treatments, including enzyme replacement and substrate reduction therapies.