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Term Description

DNA analysis performed using an allelic discrimination assay for the P479L(c.1436C>T) sequence variant in the Carnitine Palmitoyl Transferase (CPT1a) gene.

Part Description

LP182361-8   CPT1A gene.c.1436C>T
Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency. Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Carnitine palmitoyltransferase I deficiency

LOINC Names Get Info

Fully-Specified Name
CPT1A gene.c.1436C>T:PrThr:Pt:Bld.dot:Ord:Molgen
Long Common Name
CPT1A gene c.1436C>T [Presence] in DBS by Molecular genetics method
Short Name
CPT1A c.1436C>T DBS Ql
Display Name
CPT1A gene c.1436C>T Molgen Ql (DBS)
Consumer Name Alpha Get Info
CPT1A gene c.1436C>T, Dried blood spot

Part Model Get Info

  • Component
    CPT1A gene.c.1436C>T
    LP182361-8
    • Analyte
      CPT1A gene.c.1436C>T
      LP182361-8
      • Component Numerator
        CPT1A gene.c.1436C>T
        LP182361-8
        • Component Numerator Core
          CPT1A gene.c.1436C>T
          LP182361-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2848-1

Source: Canada Health Infoway
AnswerCodeScoreAnswer ID
Heterozygous for the P479L variantLA20922-3
Homozygous for the P479L variantLA20923-1

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.73 (MIN)
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
19533

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CPT1A c.1436C>T:Přítomnost nebo práh:Časový bod:Suchá krevní kapka (DBS):Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CPT1A.c.1436C>T:PrThr:Pt:Bld.dot:Ord:Μοριακή γενετική
Synonyms: Bld.dot C MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Γονίδιο Γονίδιο CPT1A.c.1436C>T Μοριακή γενετική
es-ESSpanish (Spain)Gen de la carnitina palmitoil transferasa 1A mutación c.1436C>T:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:Genética molecular
es-MXSpanish (Mexico)Gen CPT1A c.1436C> T:Presencia o umbral:Punto temporal:DBS:Ordinal:Genética molecular
fr-CAFrench (Canada)Gène CPT1A.c.1436C>T:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:Molgen
fr-FRFrench (France)CPT1A gène mutation c.1436C>T:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)CPT1A, gene.c.1436C>T:PrThr:Pt:Sangue.su carta da filtro:Ord:Molgen
Synonyms: Gene CPT1A c.1436C>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)CPT1A-gen.c.1436C>T:aanwezigheid:moment:gedroogde bloedspot:ordinaal:moleculair genetisch onderzoek
Synonyms: CPT1A gen.c.1436C>T molgen
pl-PLPolish (Poland)CPT1A gen.c.1436C>T:granica wykrywalności:punkt w czasie:sucha kropla krwi:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CPT1A c.1436C>T (p.Pro479Leu)
ru-RURussian (Russian Federation)CPT1A ген.c.1436C>T:PrThr:ТчкВрм:Кр.Сух.капл:Пор:МолГен
Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TRTurkish (Turkey)CPT1A geni.c.1436C>T:MevcEşik:Zmlı:Kan.nokta:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)CPT1A 基因.c.1436C>T:存在情况或阈值:时间点:全血.斑点:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74780-8