Version 2.77

Part Description

LP268352-4   Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
Congenital disorders of glycosylation (CDG) are caused by a defect in glycosylation, primarily of proteins and lipids. Protein glycosylation naturally occurs in two ways, either through an N-linkage to the amide group of asparagine or an O-linkage to the hydroxyl group of serine or threonine. The majority of known CDG disorders involve protein N-glycosylation, followed by protein O-glycosylation. Lipid glycosylation disorders have only recently begun to be identified. The primary screening test for N-glycosylation disorders is
serum carbohydrate deficient transferrin analysis PMID: 17506657, and for O-glycosylation disorders is apolipoprotein CIII analysis. PMID: 21175687 The symptoms, presentation, and prognosis for different CDGs varies widely. However, neurological involvement, including seizures, hypotonia, and cognitive impairment, is common, as are bleeding or clotting disorders, feeding disorders leading to failure to thrive, and eye disorders including strabismus and retinal disease. Patients with O- and lipid glycosylation disorders more commonly have dysmorphic features compared to those who have disorders of N-glycosylation. [https://rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/] Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
90417-7 Transferrin.carbohydrate deficient and Apolipoprotein C-III panel - Serum or Plasma
Indent35475-3 Transferrin.carbohydrate deficient.asialo/Transferrin.carbohydrate deficient.tetrasialo [Mass Ratio] in Serum or Plasma
Indent35469-6 Transferrin.carbohydrate deficient.disialo/Transferrin.carbohydrate deficient.tetrasialo [Mass Ratio] in Serum or Plasma
Indent90420-1 Transferrin.carbohydrate deficient.trisialo/Transferrin.carbohydrate deficient.tetrasialo [Mass Ratio] in Serum or Plasma {ratio}
Indent90419-3 Apolipoprotein CIII-0/Apolipoprotein CIII-2 [Mass Ratio] in Serum or Plasma {ratio}
Indent90421-9 Apolipoprotein CIII-1/Apolipoprotein CIII-2 [Mass Ratio] in Serum or Plasma {ratio}

Fully-Specified Name

Component
Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
Property
-
Time
Pt
System
Ser/Plas
Scale
-
Method

Additional Names

Short Name
CDT + Apo C-III Pnl SerPl
Display Name
Transferrin.carbohydrate deficient and Apolipoprotein C-III panel
Consumer Name Alpha Get Info
Transferrin.carbohydrate Deficient and Apolipoprotein C-III Panel, Blood

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de transferrina deficiente en carbohidratos y Apolipoproteían CIII:Propiedades mixtas (sólo paneles):Punto temporal:Suero o Plasma:-:
es-MX Spanish (Mexico) Panel de transferrina, deficiente en carbohidratos y apolipoproteína CIII:-:Punto temporal:Suero o Plasma:-:
fr-FR French (France) Transferrine désialylée et apolipoprotéine CIII panel:-:Ponctuel:Sérum/Plasma:-:
it-IT Italian (Italy) Transferrina.carboidrato deficiente & Apolipoproteina CIII, panel:-:Pt:Siero/Plasma:-:
Synonyms: Chimica Panel Transferrina.carboidrato deficiente e Apolip Plasma Punto nel tempo (episodio) Set di prescrizione chimica Siero Siero o Plasma Transferrina carboidrato carente
nl-NL Dutch (Netherlands) transferrine.koolhydraatdeficiënt & apolipoproteïne CIII panel:-:moment:serum of plasma:-:
Synonyms: transferrine.carbohydraat deficient transferrine.carbohydraat deficient & apolipoproteïne CIII panel
zh-CN Chinese (China) 转铁蛋白.碳水化合物缺乏性 与 载脂蛋白 CIII 组套:-:时间点:血清/血浆:-:
Synonyms: CDT;糖化转铁蛋白;糖化铁传递蛋白;糖基化转铁蛋白;糖基化铁传递蛋白;糖基缺乏性转铁蛋白;糖类缺乏性转铁蛋白;糖缺乏转铁蛋白;缺糖型式运铁蛋白;缺糖基转铁蛋白;缺糖转铁蛋白;血清变异转铁蛋白;转铁蛋白.糖基缺乏性;转铁蛋白.糖类缺乏;转铁蛋白碳水化合物缺乏;转铁蛋白糖类缺乏;铁传递蛋白.碳水化合物缺乏性;铁传递蛋白.糖基缺乏性;铁传递蛋白.糖类缺乏性;铁传递蛋白碳水化合物缺乏 Tf;Trf;输铁蛋白;铁传递蛋白 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 多重;多重型;多重标尺类型;多重精度类型 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 组 组合 组合医嘱 组合类 组套 脱脂蛋白 血清或血浆 转铁蛋白.碳水化合物缺乏性 与 载脂蛋白 CIII 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) 载脂蛋白类 阿朴脂蛋白

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=90417-7
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/90417-7