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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.

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINCNameR/O/CCardinalityExample UCUM Units
79284-6Carnitine biosynthesis intermediates panel - DBS
Indent38481-8Carnitine free (C0) [Moles/volume] in DBSumol/L
Indent79330-7Trimethyllysine [Moles/volume] in DBSumol/L
Indent79310-9Gamma butyrobetaine [Moles/volume] in DBSumol/L
Indent79314-1Gamma butyrobetaine/Trimethyllysine [Molar ratio] in DBS{ratio}
Indent79270-53-Hydroxytrimethyl-L-lysine [Moles/volume] in DBSumol/L
Indent79273-93-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in DBS{ratio}
Indent79339-8Carnitine biosynthesis intermediates pattern newborn screen interpretation

LOINC Names Get Info

Fully-Specified Name
Carnitine biosynthesis intermediates panel:-:Pt:Bld.dot:-:
Long Common Name
Carnitine biosynthesis intermediates panel - DBS
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

Part Model Get Info

  • Component
    Carnitine biosynthesis intermediates panel
    LP200427-5
    • Analyte
      Carnitine biosynthesis intermediates panel
      LP200427-5
      • Component Numerator
        Carnitine biosynthesis intermediates panel
        LP200427-5
        • Component Numerator Core
          Carnitine biosynthesis intermediates panel
          LP200427-5
        • 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
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    -
    LP7747-1
  • Method
    NULL
     

Basic Attributes

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Karnitin meziprodukty biosyntézy panel:-:Časový bod:Suchá krevní kapka (DBS):-:
el-GRGreek (Greece)Πίνακας ενδιάμεσων προϊόντων βιοσύνθεσης καρνιτίνης:-:Pt:Bld.dot:-:
Synonyms: - Bld.dot CHEM PANEL.CHEM Pt Αίμα Καρνιτίνη Πίνακας ενδιάμεσων προϊόντων βιοσύνθεσης καρνιτίνης
es-ESSpanish (Spain)Panel de acilcarnitinas:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MXSpanish (Mexico)Panel de intermedios de biosíntesis de carnitina:-:Punto temporal:DBS:-:
fr-FRFrench (France)Carnitine intermédiaires de synthèse panel:-:Ponctuel:Sang buvard:-:
it-ITItalian (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-NLDutch (Netherlands)carnitine biosynthese intermediairen panel:-:moment:gedroogde bloedspot:-:
pl-PLPolish (Poland)Panel pośrednich produktów biosyntezy karnityny:-:punkt w czasie:sucha kropla krwi:-:
zh-CNChinese (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