94489-2

LOINC 2.82

Lysosomal storage disorders panel - Leukocytes

LSD pnl WBC

Definition

  • 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.

Component

  • Lysosomal storage disorders panel

Specimen / system

  • WBC

Class

  • PANEL.CHEM

Property

  • -

Scale

  • Qn

Related names

  • Chemistry; Leukocytes; LSD; LSD pnl; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; QNT; Quan; Quant; Quantitative; Random; WBCs; White blood cells

Index terms

  • Chemistry
  • Leukocytes
  • LSD
  • LSD pnl
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • WBCs
  • White blood cells