Version 2.78

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 chromosome region 8q24 deletion
Property
PrThr
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Sequencing

Additional Names

Short Name
Fet Chr 8q24 Del Plas.cfDNA Ql
Display Name
Chromosome region 8q24 del Sequencing Ql (cfDNA)
Consumer Name Alpha Get Info
Fetal 8q24 deletion analysis

Example Answer List: LL360-9

Source: Regenstrief Institute
Answer Code Score Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6

Basic Attributes

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

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) Región 8q24 del cromosoma fetal Deleción:PrThr:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MX Spanish (Mexico) Deleción de la región 8q24 del cromosoma fetal:Presencia o umbral:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FR French (France) Chromosome foetal région 8q24 délétion:Présence/Seuil:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-IT Italian (Italy) Regione cromosomica 8q24 Delezione:PrThr:Pt:Plasma.DNA libero circolante:Ord:Sequenziamento
Synonyms: Delezione o duplicazione genica DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio)
pl-PL Polish (Poland) Region chromosomowy 8q24 u płodu delecja:granica wykrywalności:punkt w czasie:pozakomórkowy DNA w osoczu:półilościowy:sekwencjonowanie
Synonyms: Delecja prązka 24 długiego ramienia chromosomu 8 u płodu
zh-CN Chinese (China) 胎儿染色体区域 8q24 缺失:存在情况或阈值: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 区;地区;局部 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 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部） 胎儿染色体区域（染色体部位、染色体区、染色体区带、染色体部） 8q24 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=92902-6