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Term Description

The risk interpretation (e.g. increased risk) of chromosome X & Y aneuploidy present in fetal cell-free DNA from maternal plasma. This term was created for, but not limited in use to, QNatal Advanced, a non-invasive prenatal test which uses massively parallel sequencing to identify chromosome X & Y aneuploidy.

Part Description

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Fetal chromosome X & Y aneuploidy risk:Imp:Pt:Plas.cfDNA:Ord:Sequencing
Long Common Name
Fetal Chromosome X and Y aneuploidy risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing
Short Name
Fet X + Y aneup risk Plas.cfDNA Seq-Imp
Display Name
Chr X and Y aneuploidy risk Sequencing Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Chromosome X and Y Aneuploidy Risk

Part Model Get Info

  • Component
    Fetal chromosome X & Y aneuploidy risk
    LP200455-6
    • Analyte
      Fetal chromosome X & Y aneuploidy risk
      LP200455-6
      • Component Numerator
        Fetal chromosome X & Y aneuploidy risk
        LP200455-6
        • Component Numerator Core
          Fetal chromosome X & Y aneuploidy risk
          LP200455-6
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Ord
    LP7751-3
  • Method
    Sequencing
    LP150045-5

Example Answer List: LL3710-2

Source: Quest Diagnostics Inc.
AnswerCodeScoreAnswer ID
No aneuploidyLA24543-3
Increased riskLA24544-1

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.66 (NAM)
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom X a Y aneuploidie riziko u plodu:Interpretace:Časový bod:DNA volná cirkulující (cfDNA):Ordinální:Sekvenace
el-GRGreek (Greece)Κίνδυνος εμβρυικής ανευπλοειδίας χρωμοσωμάτων X & Y:Imp:Pt:Πλάσμα.cfDNA:Ord:Αλληλούχιση
Synonyms: Imp MOLPATH Ord Pt Αλληλούχιση Ανευπλοειδία χρωμοσωμάτων X & Y Εμβρυική ανευπλοειδία χρωμοσωμάτων X & Y Κίνδυνος εμβρυικής ανευπλοειδίας χρωμοσωμάτων X & Y Πλάσμα Πλάσμα.cfDNA Χρωμόσωμα
es-ESSpanish (Spain)Riesgo de aneuploidía X e Y:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MXSpanish (Mexico)Riesgo de aneuploidía fetal de los cromosomas X e Y:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FRFrench (France)Risque d'aneuploïdie foetale chromosome X et Y:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-ITItalian (Italy)Cromosomi X & Y, aneuploidia, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Sequenziamento
Synonyms: Aneuploidia dei cromosomi X e Y DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di aneuploidia dei cromosomi X e Y
pl-PLPolish (Poland)Ryzyko aneuploidii chromosomów X & Y u płodu:ocena:punkt w czasie:osocze.cfDNA:uporządkowany:sekwencjonowanie
Synonyms: Aneuploidia chromosomów X i Y Aneuploidia chromosomów X i Y płodu Ryzyko aneuploidii chromosomów X i Y u płodu wolnokrążące DNA w osoczu
tr-TRTurkish (Turkey)Kromozom X ve Y anöploid riski:İzlnm:Zmlı:Plaz.cfDNA:Srl:Sekanslama
Synonyms: Dizi tayini Plazma hücresiz DNA
zh-CNChinese (China)胎儿染色体 X 与 Y 非整倍体性风险:印象:时间点:血浆.cfDNA:序数型:序列测定
Synonyms: 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 分子病理学;分子病理学试验 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 序列分析;测序 时刻;随机;随意;瞬间 染色体 X 与 Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）;X 与 Y 染色体非整倍体性 染色体二体型+染色体三体型 胎儿染色体 X & Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性） 胎儿染色体 X 与 Y 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）风险（危险、风险率、风险性、危险率、危险性）;X 与 Y 染色体非整倍体性 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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