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Part Description

LP19684-7   CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CFTR gene targeted mutation analysis:Find:Pt:Amnio fld:Doc:Molgen
Long Common Name
CFTR gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
Short Name
CFTR Mut Anl Amn
Display Name
CFTR gene targeted mutation analysis Molgen Doc (Amn fld)
Consumer Name Alpha Get Info
CFTR gene targeted mutation analysis, Amniotic fluid

Part Model Get Info

  • Component
    CFTR gene targeted mutation analysis
    LP227959-6
    • Analyte
      CFTR gene targeted mutation analysis
      LP227959-6
      • Component Numerator
        CFTR gene targeted mutation analysis
        LP227959-6
        • Component Numerator Core
          CFTR gene
          LP19684-7
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Amnio fld
    LP7000-5
    • System Core
      Amnio fld
      LP7000-5
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.19
Last Updated
Version 2.73 (MIN)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
15842

Member of these Panels

LOINCLong Common Name
54037-7HEDIS 2009 panel
57820-3HEDIS 2010 panel
60442-1HEDIS 2011 panel
67767-4HEDIS 2012 panel
72199-3HEDIS 2013 panel
74234-6HEDIS 2014 Value Sets

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR cílená mutační analýza:Nález:Časový bod:Amniová tekutina:Dokument:Molekulární genetika
de-DEGerman (Germany)CFTR-Gen zielgerichtete Mutationsanalyse:Befund:Zeitpunkt:Amnionflüssigkeit:Dokument:Molekulargenetisch
el-GRGreek (Greece)Γονίδιο CFTR στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αμνιακό υγρό:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αμνιακό υγρό Γονίδιο Γονίδιο CFTR Εύρεση Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen CFTR Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen CFTR:Hallazgo:Punto temporal:Líquido amniótico:Documento:Genética molecular
fr-FRFrench (France)CFTR gène mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique:Document:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
Synonyms: Gene CFTR Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NLDutch (Netherlands)CFTR-gen doelgerichte mutatie-analyse:bevinding:moment:vruchtwater:document:moleculair genetisch onderzoek
Synonyms: CFTR gen molgen targeted
pl-PLPolish (Poland)CFTR gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:płyn owodniowy:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu CFTR diagnostyka molekularna Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą
pt-BRPortuguese (Brazil)CFTR análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecular
Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)CFTR ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
Synonyms: Амниотическая жидкость Документ Точка во времени;Момент
tr-TRTurkish (Turkey)CFTR geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CNChinese (China)CFTR 基因 突变分析:发现:时间点:羊水:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 羊膜水;胎水 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=46989-0