Version 2.78

Term Description

The interpretation (e.g. not detected, increased risk) of chromosomal microdeletions 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 microdeletions in select chromosome regions, including 22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), and 1p36 deletion syndrome.
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 microdeletions risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Sequencing

Additional Names

Short Name
Fet Microdel risk Plas.cfDNA Seq-Imp
Display Name
Microdels risk Sequencing Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Microdels risk

Example Answer List: LL3711-0

Source: Quest Diagnostics Inc.
Answer Code Score Answer ID
Not detected LA11883-8
Increased risk LA24544-1

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.66
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
92901-8 Noninvasive prenatal fetal aneuploidy and microdeletion panel - Plasma cell-free DNA by Sequencing

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo de síndrome por microdeleción:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MX Spanish (Mexico) Riesgo de microdeleciones fetales:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FR French (France) Risque microdélétions foetales:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-IT Italian (Italy) Microdelezioni, 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)
tr-TR Turkish (Turkey) Mikrodelesyon riski:İzlnm:Zmlı:Plaz.cfDNA:Srl:Sekanslama
Synonyms: Dizi tayini Plazma hücresiz DNA
zh-CN Chinese (China) 胎儿微缺失风险: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 胎儿微缺失（微缺失、微细缺失、微缺、微缺损、微删除、微丢失）风险（危险、风险率、风险性、危险率、危险性） 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79212-7