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Part Description

LP145976-9   CFTR gene.c.394delTT
The cystic fibrosis transmembrane regulator (CFTR) mutation in exon 3 (394delTT, rs121908769) is commonly referred to as the 'Nordic CF mutation.' It is found at high frequencies in Denmark and other countries, including Sweden, Norway, Estonia, Finland, Russia, etc., that border the Baltic Sea and associated waterways. PMID: 7509310 Source: Regenstrief LOINC, PMID: 7509310

LOINC Names Get Info

Fully-Specified Name
CFTR gene.c.394delTT:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
CFTR gene c.394delTT [Presence] in Blood or Tissue by Molecular genetics method
Short Name
CFTR c.394delTT Bld/T Ql
Display Name
CFTR gene c.394delTT Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR gene c.394delTT, Blood or tissue specimen

Part Model Get Info

  • Component
    CFTR gene.c.394delTT
    LP145976-9
    • Analyte
      CFTR gene.c.394delTT
      LP145976-9
      • Component Numerator
        CFTR gene.c.394delTT
        LP145976-9
        • Component Numerator Core
          CFTR gene.c.394delTT
          LP145976-9
        • 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/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
AnswerCodeScoreAnswer ID
Wild typeLA9658-1
HeterozygousLA6706-1
HomozygousLA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.73 (MIN)
Change Reason
Property has been changed from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant. Scale has been changed from Nom to Ord since results (e.g. present/absent or wildtype, heterozgous, homozygous) are ordinal.; 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
18762

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR c.394delTT:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CFTR c.394delTT:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: C MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CFTR Γονίδιο CFTR c.394delTT Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen CFTR.c.394delTT:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen CFTR c.394delTT:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)CFTR gène mutation c.394delTT:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene.c.394delTT:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene CFTR Gene CFTR c.394 delezione TT Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)CFTR-gen.c.394delTT:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CFTR gen CFTR gen.c.394delTT molgen
pl-PLPolish (Poland)CFTR gen.c.394delTT:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CFTR c.394delTT Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą
ru-RURussian (Russian Federation)CFTR ген.c.394delTT:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CFTR geni.c.394delTT:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)CFTR 基因.c.394delTT:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白 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 全血或组织;血液/组织;血液或组织 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 未作说明的组织;组织;组织 & 涂片 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=70244-9