Use

This screening test is useful for evaluating patients with a clinical presentation suggestive of a lysosomal disorder—specifically Gaucher disease, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe disease, Krabbe disease, Fabry disease, mucopolysaccharidosis type I or II—or a peroxisomal disorder such as X‑linked adrenoleukodystrophy or Zellweger spectrum disorders. It screens for a select number of disorders, including Gaucher, Fabry, Pompe, Krabbe, Niemann‑Pick A and B, mucopolysaccharidosis type I and II, Zellweger spectrum disorders, and X‑linked adrenoleukodystrophy. Positive results require confirmatory biochemical or molecular testing to establish a definitive diagnosis.