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Term Description

This term was created for, but is not limited in use to, Sequenom Laboratories' MaterniT21 PLUS trisomy 21 test, which analyzes circulating cell-free DNA extracted from maternal plasma for chromosome 21 aneuploidy using whole genome sequencing. MaterniT21 PLUS is indicated for use in pregnant women with increased risk for fetal chromosomal 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 21 trisomy:PrThr:Pt:Plas.cfDNA:Ord:Sequencing
Long Common Name
Fetal Chromosome 21 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Short Name
Fet Chr 21 Ts Plas.cfDNA Ql
Display Name
Chr 21 trisomy Sequencing Ql (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome 21 trisomy

Part Model Get Info

  • Component
    Fetal chromosome 21 trisomy
    LP410745-6
    • Analyte
      Fetal chromosome 21 trisomy
      LP410745-6
      • Component Numerator
        Fetal chromosome 21 trisomy
        LP410745-6
        • Component Numerator Core
          Fetal chromosome 21 trisomy
          LP410745-6
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Ord
    LP7751-3
  • Method
    Sequencing
    LP150045-5

Example Answer List: LL3282-2

Source: Sequenom, Inc.
AnswerCodeScoreAnswer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)LA6577-6
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)LA6576-8
Not reportableLA22730-8
Quantity insufficientCopyright http://snomed.info/sct ID:281268007 Insufficient specimen (finding)LA15842-0

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.73 (MIN)
Change Reason
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.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
77018-0Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing
92901-8Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fetální chromozom 21 trizomie:Přítomnost nebo práh:Časový bod:DNA volná cirkulující (cfDNA):Ordinální:Sekvenace
el-GRGreek (Greece)Εμβρυική τρισωμία χρωμοσώματος 21:PrThr:Pt:Πλάσμα.cfDNA:Ord:Αλληλούχιση
Synonyms: MOLPATH MOLPATH.TRISOMY Ord PrThr Pt Αλληλούχιση Εμβρυική τρισωμία χρωμοσώματος 21 Πλάσμα Πλάσμα.cfDNA Τρισωμία χρωμοσώματος 21 Χρωμόσωμα
es-ESSpanish (Spain)Trisomía fetal del cromosoma 21:PrThr:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MXSpanish (Mexico)Trisomía fetal del cromosoma 21:Presencia o umbral:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FRFrench (France)Chromosome 21 trisomie foetale:Présence/Seuil:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-ITItalian (Italy)Cromosoma 21, trisomia:PrThr:Pt:Plasma.DNA libero circolante:Ord:Sequenziamento
Synonyms: DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 21
pl-PLPolish (Poland)Trisomia chromosomu 21 u płodu:granica wykrywalności:punkt w czasie:osocze.cfDNA:uporządkowany:sekwencjonowanie
Synonyms: wolnokrążące DNA w osoczu
zh-CNChinese (China)胎儿染色体 21 三体性:存在情况或阈值:时间点:血浆.cfDNA:序数型:序列测定
Synonyms: 21号染色体三体型;21号染色体三体性;Down 氏综合征;Down 综合征;唐氏症;唐氏综合征;唐氏综合症;染色体 21 三体型;蒙古症 三体型 三体细胞 三染色体性 三染色体细胞 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 分子病理学试验类.三体性（三体型） 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） 序列分析;测序 时刻;随机;随意;瞬间 染色体二体型+染色体三体型 胎儿染色体 21 三体性（三体型） 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77011-5