Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
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.
Special Instructions
Not provided.
Limitations
This is a screening test performed using blood spot specimens; abnormal or presumptive positive results must be followed by additional biochemical or molecular testing to confirm the diagnosis. The panel covers only a select number of lysosomal and peroxisomal disorders and does not substitute for comprehensive diagnostic evaluation.
Methodology
Other
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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