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Term Description

This term is used for testing the presence of large genomic duplications and deletions within the CFTR gene. Full CFTR gene analysis combined with deletion/duplication anaylsis identify over 95% of the known genetic mutations.

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 deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA
Long Common Name
CFTR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name
CFTR Del+Dup Bld/T MLPA
Display Name
CFTR gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR gene deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CFTR gene deletion+duplication
    LP227957-0
    • Analyte
      CFTR gene deletion+duplication
      LP227957-0
      • Component Numerator
        CFTR gene deletion+duplication
        LP227957-0
        • Component Numerator Core
          CFTR gene
          LP19684-7
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • 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
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    MLPA
    LP147267-1

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.73 (MIN)
Change Reason
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
18407

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR delece+duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GRGreek (Greece)Γονίδιο CFTR διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA
Synonyms: Doc MLPA MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CFTR διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός
es-ESSpanish (Spain)Gen CFTR Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MXSpanish (Mexico)Deleción + duplicación del gen CFTR:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FRFrench (France)CFTR gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-ITItalian (Italy)CFTR, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA
Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Gene CFTR Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PLPolish (Poland)CFTR gen delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA
Synonyms: Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą
tr-TRTurkish (Turkey)CFTR geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA
Synonyms: çiftleme
zh-CNChinese (China)CFTR 基因 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术
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 multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=69480-2