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Term Description

Reproductive carrier screening is performed during preconception or prenatally to determine the risk for passing on serious inherited genetic conditions to a child. Most carrier screening is for recessive disorders. This test includes screening for the following conditions: cystic fibrosis (CF, CFTR gene), fragile X (FXS, FMR1 gene), and spinal muscular atrophy (SMA, SMN1 gene).

LOINC Names Get Info

Fully-Specified Name
CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
CFTR+FMR1+SMN1 Mut Anl Bld/T
Display Name
CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR and FMR1 (CGG repeat) and SMN1 gene mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis
    LP426527-0
    • Analyte
      CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis
      LP426527-0
      • Component Numerator
        CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis
        LP426527-0
        • Component Numerator Core
          CFTR gene & FMR1 gene CGG repeat & SMN1 gene mutation analysis
          LP426527-0
        • Component Numerator Core Suffix
          NULL
           
      • 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
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR a FMR1 (repetitivní sekvence CGG) a gen SMN1 mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Ανάλυση γονιδιακής μετάλλαξης γονιδίου CFTR & γονιδίου FMR1 επανάληψη CGG & SMN1:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Ανάλυση γονιδιακής μετάλλαξης γονιδίου CFTR & γονιδίου FMR1 επανάληψη CGG & SMN1 Γονίδιο Γονίδιο CFTR Γονίδιο FMR1 Γονίδιο FMR1 CGG Γονίδιο SMN1 Εύρεση Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen CFTR y gen FMR1, repetición de CGG y análisis de mutación del gen SMN1:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Gen CFTR y gen FMR1 Repetición de CGG y análisis de mutación del gen SMN1:Encontrar:Punto temporal:Bld / Tiss:Documento:Molgen
fr-FRFrench (France)CFTR gène et FMR1 gène répétition CGG et SMN1 gène mutation recherche:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene & FMR1, gene.CGG ripetizioni & Analisi della mutazione del gene SMN1:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: CFTR e FMR1 (CGG ripetizioni) e Analisi della mutazione del gene SMN1 FMR1 gene CGG Gene CFTR Gene FMR1 Gene SMN1 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)genmutatieanalyse van CFTR-gen & FMR1-gen CGG repeat & SMN1-gen:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: CFTR gen FMR1 gen FMR1 gen CGG molgen SMN1 gen
pl-PLPolish (Poland)Analiza mutacji genu CFTR, genu FMR1 (powtórzenia CGG) i genu SMN1:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą Gen FMR1 CGG Gen FMR1;Gen zespołu łamliwego chromosomu X Gen SMN1
zh-CNChinese (China)CFTR 基因与 FMR1 基因 CGG 重复序列与 SMN1 基因突变分析:发现:时间点:全血/组织: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 BCD541;Gemin 1;Kugelberg-Welander 病;SMA1;SMA2;SMA3;SMN;SMN 蛋白基因;SMV;Werdnig-Hoffmann 病;少年型家族性进行性脊肌萎缩症;少年型脊肌萎缩症;脊肌萎缩症;运动神经元存活蛋白基因;运动神经元生存蛋白基因 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;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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 脆性 X 染色体智力低下 1;Fragile X Mental Retardation 1 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1 血;血液 遗传基因;遗传因子;吉恩;生物基因

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