90417-7
Transferrin.carbohydrate deficient and Apolipoprotein C-III panel - Serum or Plasma
Active
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} |
LOINC Names Get Info
- Fully-Specified Name
- Transferrin.carbohydrate deficient & Apolipoprotein CIII panel:
-: Pt: Ser/Plas: -: - Long Common Name
- Transferrin.carbohydrate deficient and Apolipoprotein C-III panel - Serum or Plasma
- 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
Part Model Get Info
- Component
- Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
LP268352-4
- Analyte
- Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
LP268352-4
- Component Numerator
- Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
LP268352-4
- Component Numerator Core
- Transferrin.carbohydrate deficient & Apolipoprotein CIII panel
LP268352-4
- Component Numerator Core Suffix
- NULL
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- -
LP6769-6
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Ser/Plas
LP7576-4
- System Core
- Ser/Plas
LP7576-4
- Super System
- NULL
- Scale
- -
LP7747-1
- Method
- NULL
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.65
- Last Updated
- Version 2.65 (ADD)
- Order vs. Observation
- Order
- Panel Type
- Panel
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Transferin.karbohydrát deficientní a apolipoprotein C-III panel: |
| el-GR | Greek (Greece) | Τρανσφερίνη.πίνακας ανεπάρκειας υδατανθράκων & Απολιποπρωτεΐνης CIII: Synonyms: - CHEM PANEL.CHEM Pt Ορός Ορός/Πλάσμα Πλάσμα Τρανσφερίνη.πίνακας ανεπάρκειας υδατανθράκων & |
| es-ES | Spanish (Spain) | Panel de transferrina deficiente en carbohidratos y Apolipoproteían CIII: |
| es-MX | Spanish (Mexico) | Panel de transferrina, deficiente en carbohidratos y apolipoproteína CIII: |
| fr-FR | French (France) | Transferrine désialylée et apolipoprotéine CIII panel: |
| it-IT | Italian (Italy) | Transferrina.carboidrato deficiente & Apolipoproteina CIII, panel: 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: Synonyms: transferrine.carbohydraat deficient transferrine.carbohydraat deficient & |
| pl-PL | Polish (Poland) | Transferyna o deficycie węglowodanów & Apolipoproteina CIII panel: Synonyms: Desialowana transferyna; |
| zh-CN | Chinese (China) | 转铁蛋白.碳水化合物缺乏性 与 载脂蛋白 CIII 组套: Synonyms: CDT; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- 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
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://