Version 2.78

Term Description

The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
79284-6 Carnitine biosynthesis intermediates panel - DBS
Indent38481-8 Carnitine free (C0) [Moles/volume] in DBS umol/L
Indent79330-7 Trimethyllysine [Moles/volume] in DBS umol/L
Indent79310-9 Gamma butyrobetaine [Moles/volume] in DBS umol/L
Indent79314-1 Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS {ratio}
Indent79270-5 3-Hydroxytrimethyl-L-lysine [Moles/volume] in DBS umol/L
Indent79273-9 3-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in DBS {ratio}
Indent79339-8 Carnitine biosynthesis intermediates pattern newborn screen interpretation

Fully-Specified Name

Component
Carnitine biosynthesis intermediates panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Carnitine biosynthesis Panel DBS
Display Name
Carnitine biosynthesis intermediates panel (DBS)
Consumer Name Alpha Get Info
Carnitine biosynthesis intermediates panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de acilcarnitinas:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de intermedios de biosíntesis de carnitina:-:Punto temporal:DBS:-:
fr-FR French (France) Carnitine intermédiaires de synthèse panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Intermediari nella biosintesi della carnitina, panel:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel Intermediari nella biosintesi della carnitin Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) carnitine biosynthese intermediairen panel:-:moment:gedroogde bloedspot:-:
zh-CN Chinese (China) 肉碱生物合成中间产物组套:-:时间点:全血.斑点:-:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）生物合成中间产物组套生物合成（生物合成过程、生物合成作用）中间产物（中间产物类、中间物、中间体）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） 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79284-6
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/79284-6