" /> Lysosomal storage disorders panel:-:Pt:WBC:Qn: - CISMeF





Preferred Label : Lysosomal storage disorders panel:-:Pt:WBC:Qn:;

LOINC status : ACTIVE;

LOINC display name : Lysosomal storage disorders panel (WBC);

LOINC long common name : Lysosomal storage disorders panel - Leukocytes;

LOINC short name : LSD pnl WBC;

LOINC description : This panel is used for patients with positive newborn screening results or signs and symptoms of a lysosomal storage disorder, including Fabry disease, Gaucher disease, Krabbe disease, Niemann-Pick A/B, Pompe disease, and mucopolysaccharidosis I. If levels of alpha glucosidase or galactosylceramidase are below normal range on initial testing, confirmatory testing is performed. Confirmatory testing methods may vary between laboratories and include Liquid Chromatography-Tandem Mass Spectrometry.;

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31/07/2025


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