94489-2
LaboratoryLysosomal storage disorders panel - Leukocytes
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.
LOINC 6-Axis Classification
Component
Lysosomal storage disorders panel
Property
-
Time Aspect
Pt
System
WBC
Scale Type
Qn
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
LSD pnl WBC
Display Name
Lysosomal storage disorders panel (WBC)
Related Names
Frequently Asked Questions
What is LOINC code 94489-2?
LOINC code 94489-2 identifies "Lysosomal storage disorders panel - Leukocytes". 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.
What does 94489-2 measure?
This code measures Lysosomal storage disorders panel in WBC. It belongs to the PANEL.CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.