92899-4
Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by Sequencing
Active
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
LP343962-9 Fetal chromosome region 11q23 deletion
The CBL (Cbl proto-oncogene) gene [HGNC Gene ID:1541] is located on chromosome 11 at 11q23.3 This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] [NCBI Gene ID: 867]
Source: National Center for Biotechnology Information (NCBI) Gene
LP345007-1 Fetal chromosome region 11q23
The CBL (Cbl proto-oncogene) gene [HGNC Gene ID:1541] is located on chromosome 11 at 11q23.3 This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016] [NCBI Gene ID: 867]
Source: National Center for Biotechnology Information (NCBI) Gene
LOINC Names Get Info
- Fully-Specified Name
- Fetal chromosome region 11q23 deletion:
PrThr: Pt: Plas.cfDNA: Ord: Sequencing - Long Common Name
- Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by Sequencing
- Short Name
- Fet Chr 11q23 Del Plas.cfDNA Ql
- Display Name
- Chromosome region 11q23 del Sequencing Ql (cfDNA)
- Consumer Name Alpha Get Info
- Fetal 11q23 deletion analysis
Part Model Get Info
- Component
- Fetal chromosome region 11q23 deletion
LP343962-9
- Analyte
- Fetal chromosome region 11q23 deletion
LP343962-9
- Component Numerator
- Fetal chromosome region 11q23 deletion
LP343962-9
- Component Numerator Core
- Fetal chromosome region 11q23
LP345007-1
- Component Numerator Core Suffix
- deletion
LP29253-9
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- PrThr
LP217195-9
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Plas.cfDNA
LP185795-4
- System Core
- Plas.cfDNA
LP185795-4
- Super System
- NULL
- Scale
- Ord
LP7751-3
- Method
- Sequencing
LP150045-5
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 (ADD)
- 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 |
|---|---|---|
| cs-CZ | Czech (Czechia) | Fetální chromozom oblast 11q23 delece: |
| el-GR | Greek (Greece) | Εμβρυική χρωμοσωμική περιοχή 11q23 διαγραφή: Synonyms: MOLPATH MOLPATH.DELDUP Ord PrThr Pt Αλληλούχιση διαγραφή Εμβρυική χρωμοσωμική περιοχή 11q23 Περιοχή Πλάσμα Πλάσμα.cfDNA Χρωμόσωμα Χρωμοσωμική περιοχή |
| es-ES | Spanish (Spain) | Región 11q23 del cromosoma fetal Deleción: |
| es-MX | Spanish (Mexico) | Deleción de la región del cromosoma fetal 11q23: |
| fr-FR | French (France) | Chromosome foetal région 11q23 délétion: |
| it-IT | Italian (Italy) | Regione cromosomica 11q23 Delezione: 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 11q23 u płodu delecja: Synonyms: Delecja prążka 23 długiego ramienia chromosomu 11 u płodu wolnokrążące DNA w osoczu |
| zh-CN | Chinese (China) | 胎儿染色体区域 11q23 缺失: Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Third Party Copyright
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://