|Values are valid only on day of printing.|
Evaluation of patients with a clinical presentation suggestive of a lysosomal storage disorder, specifically Gaucher, Niemann-Pick type A or type B, Pompe, Krabbe, Fabry disease, or mucopolysaccharidosis I; or a peroxisomal disorder, either X-linked adrenoleukodystrophy or Zellweger syndrome spectrum
This is a screening test performed from a blood spot for a select number of lysosomal and peroxisomal disorders, including Gaucher disease, Fabry disease, Pompe disease, Krabbe disease, Niemann-Pick diseases A and B, mucopolysaccharidosis type I, Zellweger syndrome spectrum, and X-linked adrenoleukodystrophy.
Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.
|Test ID||Reporting Name||Available Separately||Always Performed|
|LPCBS||LysoPC by LC MS/MS (Reflex), BS||No||No|
Results will be reviewed and lysophosphatidylcholines will be performed at consultant discretion at an additional charge.
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)