Version 2.78

Term 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.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
94489-2 Lysosomal storage disorders panel - Leukocytes
Indent24051-5 Acid alpha glucosidase [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}
Indent94488-4 Acid alpha glucosidase [Enzymatic activity/mass] in Leukocytes by Confirmatory method nmol/h/mg{protein}
Indent24101-8 Acid sphingomyelinase [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}
Indent24049-9 Alpha galactosidase A [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}
Indent24057-2 Alpha-L-iduronidase [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}
Indent24084-6 Galactosylceramidase [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}
Indent94487-6 Galactosylceramidase [Enzymatic activity/mass] in Leukocytes by Confirmatory method nmol/h/mg{protein}
Indent32540-7 Glucosylceramidase [Enzymatic activity/mass] in Leukocytes nmol/h/mg{protein}

Fully-Specified Name

Component
Lysosomal storage disorders panel
Property
-
Time
Pt
System
WBC
Scale
Qn
Method

Additional Names

Short Name
LSD pnl WBC
Display Name
Lysosomal storage disorders panel (WBC)
Consumer Name Alpha Get Info
Lysosomal storage disorders panel, White blood cells

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de trastornos por almacenamiento lisosómico:Propiedades mixtas (sólo paneles):Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Panel de trastornos por almacenamiento lisosómico:-:Punto temporal:células blancas de la sangre:Cuantitativo:
fr-FR French (France) Maladies lysosomiales panel:-:Ponctuel:Leucocytes:Numérique:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale, panel:-:Pt:WBC:Qn:
Synonyms: Chimica Globuli bianchi Punto nel tempo (episodio) Set di prescrizione chimica
nl-NL Dutch (Netherlands) lysosomale stapelingsziekten panel:-:moment:leukocyten:kwantitatief:
Synonyms: glycogeenstapelingsziekten witte bloedcellen
zh-CN Chinese (China) 溶酶体贮积症组套:-:时间点:白细胞:定量型:
Synonyms: WBC;WBCs;白血球;白血细胞 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 组 组合 组合医嘱 组合类 组套

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94489-2
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/94489-2