Version 2.77

Term Description

This term was created for, but is not limited in use to, Sequenom Laboratories' MaterniT21 PLUS trisomy 13 test, which analyzes circulating cell-free DNA extracted from maternal plasma for chromosome 13 aneuploidy using whole genome sequencing. MaterniT21 PLUS is indicated for use in pregnant women with increased risk for fetal chromosomal aneuploidy.
Source: Regenstrief LOINC

Part Descriptions

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

LP187147-6   Fetal chromosome 13 trisomy
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13

Fully-Specified Name

Component
Fetal chromosome 13 trisomy
Property
PrThr
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Sequencing

Additional Names

Short Name
Fet Chr 13 Ts Plas.cfDNA Ql
Display Name
Chr 13 trisomy Sequencing Ql (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome 13 trisomy

Example Answer List: LL3282-2

Source: Sequenom, Inc.
Answer Code Score Answer 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 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
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

LOINC Long Common Name
77018-0 Noninvasive prenatal fetal 13 and 18 and 21 aneuploidy panel - Plasma cell-free DNA by Sequencing
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) Trisomía cromosoma 13:PrThr:Punto temporal:ADN en plasma libre de células:Ord:Secuenciación
es-MX Spanish (Mexico) Trisomía fetal del cromosoma 13:Presencia o umbral:Punto temporal:ADN libre de células plasmáticas:Ordinal:Secuenciación
fr-FR French (France) Chromosome 13 trisomie foetale:Présence/Seuil:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Séquençage
it-IT Italian (Italy) Cromosoma 13, 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 13
nl-NL Dutch (Netherlands) foetale trisomie 13:aanwezigheid:moment:plasma.celvrij DNA:ordinaal:sequencing
Synonyms: chromosoom 13 trisomie bij foetus circulerend DNA
pl-PL Polish (Poland) Trisomia chromosomu 13 u płodu:granica wykrywalności:punkt w czasie:pozakomórkowy DNA w osoczu:półilościowy:sekwencjonowanie
tr-TR Turkish (Turkey) Kromozom 13 trizomi:MevcEşik:Zmlı:Plaz.cfDNA:Srl:Sekanslama
Synonyms: Dizi tayini Mevcut Plazma hücresiz DNA
zh-CN Chinese (China) 胎儿染色体 13 三体性:存在情况或阈值:时间点:血浆.cfDNA:序数型:序列测定
Synonyms: 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13号染色体三体型;13号染色体三体性;染色体 13 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=77013-1