LOINC
Version 2.67

92899-4Fetal Chromosome region 11q23 deletion [Presence] based on Plasma cell-free DNA by SequencingActive

Part Descriptions

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

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

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 11q23 deletion
Property
PrThr
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Sequencing

Additional Names

Short Name
Fet Chr 11q23 Del Plas.cfDNA Ql
Display Name
Chromosome region 11q23 del Sequencing Ql (cfDNA)

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

Example Answer List LL360-9

Source: Regenstrief Institute

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

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

zh-CNChinese (CHINA)
胎儿染色体区域 11q23 缺失:存在情况或阈值:时间点:血浆.cfDNA:序数型:序列测定

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92899-4