77011-5
Fetal Chromosome 21 trisomy [Presence] based on Plasma cell-free DNA by Sequencing
Active
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.
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 chromosome 21 trisomy
- Property
- PrThr
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Sequencing
Additional Names
- 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
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 fetal del cromosoma 21: |
| es-MX | Spanish (Mexico) | Trisomía fetal del cromosoma 21: |
| fr-FR | French (France) | Chromosome 21 trisomie foetale: |
| it-IT | Italian (Italy) | Cromosoma 21, trisomia: Synonyms: DNA libero circolante nel plasma Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 21 |
| pl-PL | Polish (Poland) | Trisomia chromosomu 21 u płodu: |
| zh-CN | Chinese (China) | 胎儿染色体 21 三体性: Synonyms: 21号染色体三体型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=77011-5
Third Party Copyright
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LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright