Version 2.78

Term Description

This term was created for, but is not limited in use to, Sequenom Laboratories' VisibiliT Trisomy 21 test, which analyzes circulating cell-free DNA extracted from maternal plasma using whole genome sequencing to determine the risk for fetal chromosome 21 aneuploidy. VisibiliT is indicated for use in pregnant women with average risk for fetal chromosomal aneuploidy.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component
Fetal trisomy 21 risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Sequencing

Additional Names

Short Name
Fet Ts 21 risk Plas.cfDNA Ql
Display Name
Trisomy 21 risk Sequencing Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Trisomy 21 risk

Example Answer List: LL3286-3

Source: Sequenom, Inc.
Answer Code Score Answer ID
Low risk LA19542-2
High risk LA19541-4
Not reportable LA22730-8
Quantity insufficientCopyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) LA15842-0

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
77019-8 Noninvasive prenatal fetal 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de trisomía 21 fetal:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MX Spanish (Mexico) Riesgo de trisomía 21 fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FR French (France) Risque de trisomie 21 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-IT Italian (Italy) Trisomia 21, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Sequenziamento
Synonyms: DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
nl-NL Dutch (Netherlands) risico op foetale trisomie 21:interpretatie:moment:plasma.celvrij DNA:ordinaal:sequencing
Synonyms: circulerend DNA
zh-CN Chinese (China) 胎儿三体型 21 风险:印象:时间点:血浆.cfDNA:序数型:序列测定
Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 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） 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 胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿 三体性 21 风险;胎儿 唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险 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=77014-9