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Values are valid only on day of printing. |
As a component of the initial evaluation of a patient presenting with hepatosplenomegaly
This test is not suitable for the identification of carriers.
This is a screening test for a select number of lysosomal and lipid storage disorders, including cerebrotendinous xanthomatosis (CTX), Gaucher disease, and Niemann-Pick diseases types A, B, and C.
The above conditions may all have hepatosplenomegaly as a presenting sign, making this test a helpful component of a patient’s initial evaluation.
Although Fabry disease does not have hepatosplenomegaly as a clinical symptom, it can be identified by this assay as the compound, globotriaosylsphingosine, is detected.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)