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Identifying patients with Fabry disease
Identifying patients with metachromatic leukodystrophy
Identifying patients with saposin B deficiency
Identifying patients with multiple sulfatase deficiency
Identifying patients with mucolipidosis II (I-cell disease)
This test measures urinary excretion of ceramide trihexosides and sulfatides which are elevated in patients with Fabry disease, metachromatic leukodystrophy, multiple sulfatase deficiency, mucolipidosis II (I-cell disease), or saposin B deficiency.
Specific enzyme analysis should be performed to confirm positive result of this test.
See Fabry Disease Testing Algorithm in Special Instructions.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)